ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ST3GAL3provided by HGNC
Official Full Name: ST3 beta-galactoside alpha-2,3-sialyltransferase 3provided by HGNC
Primary source: HGNC:HGNC:10866
See related: Ensembl:ENSG00000126091 MIM:606494; AllianceGenome:HGNC:10866
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ST3N; DEE15; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII; ST3Gal III
Summary: The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Expression: Broad expression in testis (RPKM 4.7), fat (RPKM 2.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (43707536..43931159)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (43578028..43802236)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (44173207..44396831)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells.
Title: Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells.
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Title: The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
ST3GAL3 Promotes the Inflammatory Response of Fibroblast-Like Synoviocytes in Rheumatoid Arthritis by Activating the TLR9/MyD88 Pathway.
Title: ST3GAL3 Promotes the Inflammatory Response of Fibroblast-Like Synoviocytes in Rheumatoid Arthritis by Activating the TLR9/MyD88 Pathway.
A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients.
Title: A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients.
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.
Title: A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.
ST3GAL3 is associated with ADHD risk.
Title: Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila.
these were increased in the ST3GAL3 KO and ST3GAL6 KO cells, whereas the alpha2,3-sialylation levels of EGFR were significantly decreased in the ST3GAL6 KO cells
Title: ST3GAL3, ST3GAL4, and ST3GAL6 differ in their regulation of biological functions via the specificities for the α2,3-sialylation of target proteins.
Silencing of ST3Gal3 by small interfering RNA reversed these effects and increased the protein levels of caspase8/3, which may contribute to paclitaxelinduced apoptosis. The results of the present study suggested that ST3Gal3 was a target for paclitaxel-related resistance during ovarian cancer chemotherapy.
Title: ST3Gal3 confers paclitaxel‑mediated chemoresistance in ovarian cancer cells by attenuating caspase‑8/3 signaling.
Data show that endometrial tissues at secretory phase expressed a 4-fold higher ST3 beta-galactoside alpha-2,3-sialyltransferase 3 protein (ST3Gal3) level relative to the tissues at proliferative phase.
Title: The sialyltransferase ST3Gal3 facilitates the receptivity of the uterine endometrium in vitro and in vivo.
CA19.9 appears as a physiological product whose synthesis strongly depends on the tissue specific and epigenetically-regulated expression of B3GALT5 and ST3GAL3.
Title: Unexpected distribution of CA19.9 and other type 1 chain Lewis antigens in normal and cancer tissues of colon and pancreas: Importance of the detection method and role of glycosyltransferase regulation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 15 MedGen: C3554316 OMIM: 615006 GeneReviews: Not available	Compare labs
Intellectual disability, autosomal recessive 12 MedGen: C1970200 OMIM: 611090 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of aging. EBI GWAS Catalog EBI GWAS CatalogPubMed
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S353E (e-PCR)
- UniSTS:473106

G60410 (e-PCR)
- UniSTS:137516

RH47524 (e-PCR)
- UniSTS:10837

AL034219 (e-PCR)
- UniSTS:94055

D1S211 (e-PCR)
- UniSTS:13678

SHGC-172020 (e-PCR)
- UniSTS:182127

AL009731 (e-PCR)
- UniSTS:45979

SHGC-32893 (e-PCR)
- UniSTS:82110

SHGC-74694 (e-PCR)
- UniSTS:26334

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyllactosaminide alpha-2,3-sialyltransferase activity	IEA Inferred from Electronic Annotation more info
enables beta-galactoside (CMP) alpha-2,3-sialyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sialyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sialyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in O-glycan processing	TAS Traceable Author Statement more info
involved_in ganglioside biosynthetic process via lactosylceramide	IEA Inferred from Electronic Annotation more info
involved_in glycosphingolipid biosynthetic process	TAS Traceable Author Statement more info
involved_in keratan sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in oligosaccharide biosynthetic process	TAS Traceable Author Statement more info
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in viral protein processing	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase

Names: Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase; alpha 2,3-ST 3; alpha 2,3-sialyltransferase III; alpha-2,3-sialyltransferase II; sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase); sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)

NP_001257388.1

EC 2.4.3.6

NP_001257389.1

EC 2.4.3.6

NP_001257390.1

EC 2.4.3.6

NP_001257391.1

EC 2.4.3.6

NP_001257392.1

EC 2.4.3.6

NP_001257393.1

EC 2.4.3.6

NP_001257394.1

EC 2.4.3.6

NP_001257395.1

EC 2.4.3.6

NP_001337548.1

EC 2.4.3.6

NP_001337549.1

EC 2.4.3.6

NP_001337550.1

EC 2.4.3.6

NP_001350502.1

EC 2.4.3.6

NP_001397710.1

EC 2.4.3.6

NP_006270.1

EC 2.4.3.6

NP_777623.2

EC 2.4.3.6

NP_777624.1

EC 2.4.3.6

NP_777625.1

EC 2.4.3.6

NP_777626.1

EC 2.4.3.6

NP_777627.1

EC 2.4.3.6

NP_777628.2

EC 2.4.3.6

NP_777629.1

EC 2.4.3.6

NP_777630.1

EC 2.4.3.6

NP_777631.2

EC 2.4.3.6

XP_011540275.1

EC 2.4.3.6

XP_011540276.1

EC 2.4.3.6

XP_011540278.1

EC 2.4.3.6

XP_011540282.1

EC 2.4.3.6

XP_011540283.1

EC 2.4.3.6

XP_011540286.1

EC 2.4.3.6

XP_011540287.1

EC 2.4.3.6

XP_011540288.1

EC 2.4.3.6

XP_011540290.1

EC 2.4.3.6

XP_016857602.1

EC 2.4.3.6

XP_016857605.1

EC 2.4.3.6

XP_047284140.1

EC 2.4.3.6

XP_047284141.1

EC 2.4.3.6

XP_047284155.1

EC 2.4.3.6

XP_047284156.1

EC 2.4.3.6

XP_047284157.1

EC 2.4.3.6

XP_047284177.1

EC 2.4.3.6

XP_047284188.1

EC 2.4.3.6

XP_047284192.1

EC 2.4.3.6

XP_047284217.1

EC 2.4.3.6

XP_047284221.1

EC 2.4.3.6

XP_047284226.1

EC 2.4.3.6

XP_047284229.1

EC 2.4.3.6

XP_047284230.1

EC 2.4.3.6

XP_047284232.1

EC 2.4.3.6

XP_047284236.1

EC 2.4.3.6

XP_047284238.1

EC 2.4.3.6

XP_054194292.1

EC 2.4.3.6

XP_054194293.1

EC 2.4.3.6

XP_054194294.1

EC 2.4.3.6

XP_054194295.1

EC 2.4.3.6

XP_054194296.1

EC 2.4.3.6

XP_054194297.1

EC 2.4.3.6

XP_054194298.1

EC 2.4.3.6

XP_054194299.1

EC 2.4.3.6

XP_054194300.1

EC 2.4.3.6

XP_054194301.1

EC 2.4.3.6

XP_054194302.1

EC 2.4.3.6

XP_054194303.1

EC 2.4.3.6

XP_054194304.1

EC 2.4.3.6

XP_054194305.1

EC 2.4.3.6

XP_054194306.1

EC 2.4.3.6

XP_054194307.1

EC 2.4.3.6

XP_054194308.1

EC 2.4.3.6

XP_054194309.1

EC 2.4.3.6

XP_054194310.1

EC 2.4.3.6

XP_054194311.1

EC 2.4.3.6

XP_054194312.1

EC 2.4.3.6

XP_054194313.1

EC 2.4.3.6

XP_054194314.1

EC 2.4.3.6

XP_054194315.1

EC 2.4.3.6

XP_054194316.1

EC 2.4.3.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028196.2 RefSeqGene

Range

5002..228625

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001270459.2 → NP_001257388.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform k

See identical proteins and their annotated locations for NP_001257388.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks an alternate in-frame exon, uses an alternate in-frame splice site in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoforom (k, also called B1-90) is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425854, AL357079, AL451062

Consensus CDS

CCDS57988.1

UniProtKB/TrEMBL

Q96L53

Related

ENSP00000361444.1, ENST00000372369.5

Conserved Domains (1) summary

pfam00777
Location:126 → 341

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001270460.2 → NP_001257389.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform l

See identical proteins and their annotated locations for NP_001257389.1

Status: REVIEWED

Description

Transcript Variant: This variant (12) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (l, also called B4+173) is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425855, AL357079, AL451062

Consensus CDS

CCDS57989.1

UniProtKB/TrEMBL

A0A2U3TZH9

Related

ENSP00000361449.2, ENST00000372374.7

Conserved Domains (1) summary

pfam00777
Location:95 → 340

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001270461.3 → NP_001257390.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform m

See identical proteins and their annotated locations for NP_001257390.1

Status: REVIEWED

Description

Transcript Variant: This variant (13) uses an alternate in-frame splice site in the 5' coding region and lacks four alternate in-frame exons compared to variant 1. The resulting isoform (m, also called C4) is shorter compared to isoform a.

Source sequence(s)

AA478788, AL357079, AY167993, DR003980, HY013772

Consensus CDS

CCDS57990.1

UniProtKB/TrEMBL

A0A2R8YFA0

Related

ENSP00000494146.1, ENST00000642934.1

Conserved Domains (1) summary

pfam00777
Location:91 → 247

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001270462.3 → NP_001257391.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform n

See identical proteins and their annotated locations for NP_001257391.1

Status: REVIEWED

Description

Transcript Variant: This variant (14) uses an alternate in-frame splice site in the 5' coding region, lacks five alternate in-frame exons compared to variant 1. The resulting isoform (n, also called C11) is shorter compared to isoform a.

Source sequence(s)

AA478788, AL357079, AY167997, DR003980, HY013772

Consensus CDS

CCDS85964.1

UniProtKB/Swiss-Prot

Q11203

Related

ENSP00000432682.2, ENST00000531993.6

Conserved Domains (1) summary

pfam00777
Location:60 → 216

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001270463.3 → NP_001257392.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform o

See identical proteins and their annotated locations for NP_001257392.1

Status: REVIEWED

Description

Transcript Variant: This variant (15) lacks five alternate in-frame exons compared to variant 1. The resulting isoform (o, also called D5) is shorter compared to isoform a.

Source sequence(s)

AA478788, AL357079, AY167994, DR003980, HY013772

Consensus CDS

CCDS57993.1

UniProtKB/TrEMBL

A0A2R8YF05

Related

ENSP00000361442.1, ENST00000372367.5

Conserved Domains (1) summary

pfam00777
Location:106 → 183

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001270464.3 → NP_001257393.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform p

See identical proteins and their annotated locations for NP_001257393.1

Status: REVIEWED

Description

Transcript Variant: This variant (16) uses an alternate in-frame splice site in the 5' coding region and lacks five alternate in-frame exon compared to variant 1. The resulting isoform (p, also called C5) is shorter compared to isoform a.

Source sequence(s)

AA478788, AL357079, AY167995, DR003980, HY013772

Consensus CDS

CCDS57991.1

UniProtKB/TrEMBL

A0A2R8YE42

Related

ENSP00000434876.1, ENST00000528371.5

Conserved Domains (1) summary

pfam00777
Location:91 → 168

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001270465.3 → NP_001257394.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform q

See identical proteins and their annotated locations for NP_001257394.1

Status: REVIEWED

Description

Transcript Variant: This variant (17) lacks two alternate in-frame exons, uses an alternate splice site which results in a frameshift and lacks an exon in the 3' coding region compared to variant 1. The resulting isoform (q, also called D2+26) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AA478788, AF425863, AL357079, DR003980, HY013772

Consensus CDS

CCDS57994.1

UniProtKB/TrEMBL

A0A2R8YF05

Related

ENSP00000335633.7, ENST00000335430.10

Conserved Domains (1) summary

pfam00777
Location:125 → 185

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001270466.3 → NP_001257395.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform r

See identical proteins and their annotated locations for NP_001257395.1

Status: REVIEWED

Description

Transcript Variant: This variant (18) uses an alternate in-frame splice site in the 5' coding region and lacks eight alternate in-frame exons compared to variant 1. The resulting isoform (r, also called C12) is shorter compared to isoform a.

Source sequence(s)

AA478788, AL357079, AL592548, AY167998, DR003980, HY013772

Consensus CDS

CCDS57992.1

UniProtKB/TrEMBL

A0A2R8Y4Y4

Related

ENSP00000333494.3, ENST00000330208.6

Conserved Domains (2) summary

PRK05428
Location:31 → 55

PRK05428; HPr kinase/phosphorylase; Provisional

PRK05673
Location:53 → 83

dnaE; DNA polymerase III subunit alpha; Validated
NM_001350619.2 → NP_001337548.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform s

Status: REVIEWED

Source sequence(s)

AA478788, AF425855, AL357079, BC050380, BI832120, DR003980, HY013772

Consensus CDS

CCDS85965.1

UniProtKB/TrEMBL

A0A2R8Y7D8, A0A2R8YDJ6

Related

ENSP00000493823.1, ENST00000642331.1

Conserved Domains (1) summary

pfam00777
Location:141 → 353

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001350620.2 → NP_001337549.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform t

Status: REVIEWED

Source sequence(s)

AA478788, AF425855, AL357079, BC050380, BI832120, DN999880, HY013772

Consensus CDS

CCDS85962.1

UniProtKB/TrEMBL

A0A2R8Y6H4, A0A2R8Y7D8

Related

ENSP00000495333.1, ENST00000643252.1

Conserved Domains (1) summary

pfam00777
Location:126 → 338

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001350621.2 → NP_001337550.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform u

Status: REVIEWED

Source sequence(s)

AA478788, AF425855, AL357079, AL521256, BC050380, BI832120, DN999880, HY013772

Conserved Domains (1) summary

pfam00777
Location:33 → 245

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001363573.2 → NP_001350502.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform v

Status: REVIEWED

Source sequence(s)

AL357079, AL451062, AL592548

Consensus CDS

CCDS85961.1

UniProtKB/TrEMBL

A0A2R8Y6L4, A0A2U3TZM2

Related

ENSP00000495624.1, ENST00000647237.1

Conserved Domains (1) summary

pfam00777
Location:180 → 318

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_001410781.1 → NP_001397710.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform w

Status: REVIEWED

Source sequence(s)

AL357079, AL451062, AL592548

Consensus CDS

CCDS90936.1

UniProtKB/TrEMBL

A0A2R8Y732

Related

ENSP00000495683.1, ENST00000646686.1
NM_006279.5 → NP_006270.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform j

See identical proteins and their annotated locations for NP_006270.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) has multiple differences in the coding region but maintains the reading frame compared to variant 1. The resulting isoform (j, also called B1) is shorter compared to isoform a.

Source sequence(s)

AA478788, BC050380, HY013772

Consensus CDS

CCDS492.1

UniProtKB/Swiss-Prot

A9Z1W2, D3DPX8, Q11203, Q5T4W9, Q5T4X0, Q5T4X7, Q5T4X8, Q5T4X9, Q5T4Y0, Q5T4Y2, Q5T4Y3, Q5T4Y4, Q86UR6, Q86UR7, Q86UR8, Q86UR9, Q86US0, Q86US1, Q86US2, Q8IX41, Q8IX42, Q8IX43, Q8IX44, Q8IX45, Q8IX46, Q8IX47, Q8IX48, Q8IX49, Q8IX50, Q8IX51, Q8IX52, Q8IX53, Q8IX54, Q8IX55, Q8IX56, Q8IX57, Q8IX58

UniProtKB/TrEMBL

Q96L53

Related

ENSP00000317192.6, ENST00000347631.8

Conserved Domains (1) summary

pfam00777
Location:107 → 371

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_174963.5 → NP_777623.2 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform a

See identical proteins and their annotated locations for NP_777623.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also called A8).

Source sequence(s)

AF425853, AK301829, AL357079, BC050380, HY013772

Consensus CDS

CCDS493.1

UniProtKB/TrEMBL

A0A1B2JLU4

Related

ENSP00000262915.3, ENST00000262915.8

Conserved Domains (1) summary

pfam00777
Location:195 → 440

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_174964.4 → NP_777624.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform b

See identical proteins and their annotated locations for NP_777624.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (b, also called A1) that is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425851, AL357079, DR003980, HY013772

Consensus CDS

CCDS494.1

UniProtKB/TrEMBL

Q96L53

Related

ENSP00000355341.5, ENST00000361392.9

Conserved Domains (1) summary

pfam00777
Location:122 → 386

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_174965.4 → NP_777625.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform c

See identical proteins and their annotated locations for NP_777625.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region, one of which results in a frameshift compared to variant 1. The resulting isoform (c, also called A7) has a distinct C-terminus and is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425852, AL357079, DR003980, HY013772

Consensus CDS

CCDS499.1

UniProtKB/TrEMBL

A0A2R8YDA9

Related

ENSP00000439634.1, ENST00000545417.5
NM_174966.4 → NP_777626.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform d

See identical proteins and their annotated locations for NP_777626.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame compared to variant 1. The resulting isoform (d, also called B4) is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425856, AL357079, DR003980, HY013772

Consensus CDS

CCDS495.1

UniProtKB/TrEMBL

A0A2R8YFA0

Related

ENSP00000330463.3, ENST00000353126.8

Conserved Domains (1) summary

pfam00777
Location:107 → 263

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_174967.4 → NP_777627.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform e

See identical proteins and their annotated locations for NP_777627.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple differences in the coding region, one of which results in a frameshift compared to variant 1. The resulting isoform (e, also called B7) has a distinct C-terminus and is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425857, AL357079, DR003980, HY013772

Consensus CDS

CCDS500.1

UniProtKB/TrEMBL

A0A2R8Y6U3

Related

ENSP00000361437.2, ENST00000372362.6
NM_174968.5 → NP_777628.2 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform f

See identical proteins and their annotated locations for NP_777628.2

Status: REVIEWED

Description

Transcript Variant: This variant (6) utilizes an alternate in-frame splice site compared to variant 1, resulting in an isoform (f, also called B8) that is shorter compared to isoform a.

Source sequence(s)

AF425858, AK301829, AL357079, BC050380, HY013772

Consensus CDS

CCDS496.1

UniProtKB/TrEMBL

A0A1B2JLU4

Related

ENSP00000316999.6, ENST00000351035.8

Conserved Domains (1) summary

pfam00777
Location:180 → 425

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_174969.4 → NP_777629.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform g

See identical proteins and their annotated locations for NP_777629.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame compared to variant 1. The resulting isoform (g, also called C1) is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425859, AL357079, DR003980, HY013772

Consensus CDS

CCDS497.1

UniProtKB/TrEMBL

Q96L53

Related

ENSP00000354748.4, ENST00000361400.9

Conserved Domains (1) summary

pfam00777
Location:91 → 355

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_174970.4 → NP_777630.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform h

See identical proteins and their annotated locations for NP_777630.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) has multiple differences in the coding region, one of which results in a frameshift compared to variant 1. The resulting isoform (h, also called C7) has a distinct C-terminus and is shorter compared to isoform a.

Source sequence(s)

AA478788, AF425860, AL357079, DR003980, HY013772

Consensus CDS

CCDS53310.1

UniProtKB/TrEMBL

A0A2R8Y6U3

Related

ENSP00000435603.1, ENST00000531451.5
NM_174971.5 → NP_777631.2 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform i

See identical proteins and their annotated locations for NP_777631.2

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks an alternate in-frame segment compared to variant 1, resulting in an isoform (i, also called C8) that is shorter compared to isoform a.

Source sequence(s)

AF425861, AK301829, AL357079, BC050380, HY013772

Consensus CDS

CCDS498.1

UniProtKB/TrEMBL

A0A1B2JLU4

Related

ENSP00000361447.2, ENST00000372372.7

Conserved Domains (1) summary

pfam00777
Location:164 → 409

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RNA

NR_073016.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (19) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA478788, AF425864, AL357079, DR003980, HY013772

Related

ENST00000642949.1
NR_073017.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (20) lacks three alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA478788, AF425868, AL357079, DR003980, HY013772

Related

ENST00000646027.1
NR_073018.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (21) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA478788, AF425865, AL357079, AL592548, DR003980, HY013772

Related

ENST00000643597.1
NR_073019.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (22) lacks alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA478788, AF425869, AL357079, DR003980, HY013772
NR_073020.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (23) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA478788, AL357079, AL592548, AY167996, DR003980, HY013772
NR_073021.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (24) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA478788, AF425867, AL357079, DR003980, HY013772
NR_073023.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (25) lacks three alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA478788, AL357079, AL451062, AY167992, DR003980, HY013772

Related

ENST00000642194.1
NR_146867.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA478788, AF425855, AL357079, BC050380, BI822816, DN999880, HY013772

Related

ENST00000645142.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

43707536..43931159

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428200.1 → XP_047284156.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X5

UniProtKB/TrEMBL

A0A2R8Y6H4
XM_047428221.1 → XP_047284177.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X8

UniProtKB/Swiss-Prot

A9Z1W2, D3DPX8, Q11203, Q5T4W9, Q5T4X0, Q5T4X7, Q5T4X8, Q5T4X9, Q5T4Y0, Q5T4Y2, Q5T4Y3, Q5T4Y4, Q86UR6, Q86UR7, Q86UR8, Q86UR9, Q86US0, Q86US1, Q86US2, Q8IX41, Q8IX42, Q8IX43, Q8IX44, Q8IX45, Q8IX46, Q8IX47, Q8IX48, Q8IX49, Q8IX50, Q8IX51, Q8IX52, Q8IX53, Q8IX54, Q8IX55, Q8IX56, Q8IX57, Q8IX58
XM_047428184.1 → XP_047284140.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X1
XM_011541981.3 → XP_011540283.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X10

UniProtKB/TrEMBL

A0A2U3TZM2

Conserved Domains (1) summary

pfam00777
Location:176 → 335

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_047428270.1 → XP_047284226.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X14

Related

ENSP00000496289.1, ENST00000644922.1
XM_011541974.3 → XP_011540276.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X3

UniProtKB/TrEMBL

A0A2R8Y7D8

Conserved Domains (1) summary

pfam00777
Location:161 → 404

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_011541976.3 → XP_011540278.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X4

UniProtKB/TrEMBL

A0A2R8Y7D8

Conserved Domains (1) summary

pfam00777
Location:145 → 388

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_011541973.3 → XP_011540275.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X2

UniProtKB/TrEMBL

A0A2R8Y7Z2

Conserved Domains (1) summary

pfam00777
Location:176 → 419

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_011541986.4 → XP_011540288.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X12

See identical proteins and their annotated locations for XP_011540288.1

Conserved Domains (1) summary

pfam00777
Location:176 → 317

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_011541985.3 → XP_011540287.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X12

See identical proteins and their annotated locations for XP_011540287.1

Conserved Domains (1) summary

pfam00777
Location:176 → 317

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_011541984.3 → XP_011540286.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X12

See identical proteins and their annotated locations for XP_011540286.1

Conserved Domains (1) summary

pfam00777
Location:176 → 317

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_047428274.1 → XP_047284230.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X15
XM_047428276.1 → XP_047284232.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X16
XM_047428280.1 → XP_047284236.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X17
XM_047428185.1 → XP_047284141.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X1
XM_047428273.1 → XP_047284229.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X14
XM_047428232.1 → XP_047284188.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X9
XM_047428199.1 → XP_047284155.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X5

UniProtKB/TrEMBL

A0A2R8Y6H4
XM_017002113.2 → XP_016857602.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X8

UniProtKB/Swiss-Prot

A9Z1W2, D3DPX8, Q11203, Q5T4W9, Q5T4X0, Q5T4X7, Q5T4X8, Q5T4X9, Q5T4Y0, Q5T4Y2, Q5T4Y3, Q5T4Y4, Q86UR6, Q86UR7, Q86UR8, Q86UR9, Q86US0, Q86US1, Q86US2, Q8IX41, Q8IX42, Q8IX43, Q8IX44, Q8IX45, Q8IX46, Q8IX47, Q8IX48, Q8IX49, Q8IX50, Q8IX51, Q8IX52, Q8IX53, Q8IX54, Q8IX55, Q8IX56, Q8IX57, Q8IX58

UniProtKB/TrEMBL

Q96L53

Related

ENSP00000494201.1, ENST00000644195.1

Conserved Domains (1) summary

pfam00777
Location:107 → 371

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_047428201.1 → XP_047284157.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X6
XM_047428236.1 → XP_047284192.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11
XM_017002116.2 → XP_016857605.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11

Conserved Domains (1) summary

pfam00777
Location:13 → 256

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_047428265.1 → XP_047284221.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X6
XM_047428282.1 → XP_047284238.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11
XM_011541980.4 → XP_011540282.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X7

UniProtKB/TrEMBL

A0A2R8Y7D8

Conserved Domains (1) summary

pfam00777
Location:52 → 295

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
XM_047428261.1 → XP_047284217.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X13
XM_011541988.3 → XP_011540290.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X13

See identical proteins and their annotated locations for XP_011540290.1

Conserved Domains (1) summary

pfam00777
Location:1 → 243

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RNA

XR_946744.3 RNA Sequence
XR_946743.3 RNA Sequence
XR_007063036.1 RNA Sequence
XR_946742.3 RNA Sequence
XR_007063037.1 RNA Sequence
XR_007063040.1 RNA Sequence
XR_007063042.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

43578028..43802236

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338317.1 → XP_054194292.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X1
XM_054338327.1 → XP_054194302.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X10
XM_054338336.1 → XP_054194311.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X14
XM_054338320.1 → XP_054194295.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X3
XM_054338321.1 → XP_054194296.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X4
XM_054338319.1 → XP_054194294.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X2
XM_054338332.1 → XP_054194307.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X12
XM_054338331.1 → XP_054194306.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X12
XM_054338338.1 → XP_054194313.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X15
XM_054338339.1 → XP_054194314.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X16
XM_054338330.1 → XP_054194305.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X12
XM_054338340.1 → XP_054194315.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X17
XM_054338325.1 → XP_054194300.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X8

UniProtKB/Swiss-Prot

A9Z1W2, D3DPX8, Q11203, Q5T4W9, Q5T4X0, Q5T4X7, Q5T4X8, Q5T4X9, Q5T4Y0, Q5T4Y2, Q5T4Y3, Q5T4Y4, Q86UR6, Q86UR7, Q86UR8, Q86UR9, Q86US0, Q86US1, Q86US2, Q8IX41, Q8IX42, Q8IX43, Q8IX44, Q8IX45, Q8IX46, Q8IX47, Q8IX48, Q8IX49, Q8IX50, Q8IX51, Q8IX52, Q8IX53, Q8IX54, Q8IX55, Q8IX56, Q8IX57, Q8IX58
XM_054338324.1 → XP_054194299.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X8

UniProtKB/Swiss-Prot

A9Z1W2, D3DPX8, Q11203, Q5T4W9, Q5T4X0, Q5T4X7, Q5T4X8, Q5T4X9, Q5T4Y0, Q5T4Y2, Q5T4Y3, Q5T4Y4, Q86UR6, Q86UR7, Q86UR8, Q86UR9, Q86US0, Q86US1, Q86US2, Q8IX41, Q8IX42, Q8IX43, Q8IX44, Q8IX45, Q8IX46, Q8IX47, Q8IX48, Q8IX49, Q8IX50, Q8IX51, Q8IX52, Q8IX53, Q8IX54, Q8IX55, Q8IX56, Q8IX57, Q8IX58
XM_054338318.1 → XP_054194293.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X1
XM_054338337.1 → XP_054194312.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X14
XM_054338322.1 → XP_054194297.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X5

UniProtKB/TrEMBL

A0A2R8Y6H4
XM_054338326.1 → XP_054194301.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X9
XM_054338328.1 → XP_054194303.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11
XM_054338329.1 → XP_054194304.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11
XM_054338335.1 → XP_054194310.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X6
XM_054338341.1 → XP_054194316.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11
XM_054338323.1 → XP_054194298.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X7
XM_054338333.1 → XP_054194308.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X13
XM_054338334.1 → XP_054194309.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X13

RNA

XR_008486147.1 RNA Sequence
XR_008486146.1 RNA Sequence
XR_008486144.1 RNA Sequence
XR_008486145.1 RNA Sequence
XR_008486148.1 RNA Sequence
XR_008486149.1 RNA Sequence
XR_008486150.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_174972.1: Suppressed sequence

Description

NM_174972.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.