WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDSUB1provided by HGNC
Official Full Name: WD repeat, sterile alpha motif and U-box domain containing 1provided by HGNC
Primary source: HGNC:HGNC:26697
See related: Ensembl:ENSG00000196151 MIM:620802; AllianceGenome:HGNC:26697
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UBOX6; WDSAM1
Summary: Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 5.8), kidney (RPKM 5.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (159235798..159286703, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (159695595..159746544, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (160092309..160143214, complement)

Chromosome 2 - NC_000002.12 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
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?

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2190 (e-PCR), detects polymorphism
- UniSTS:58386

RH68828 (e-PCR)
- UniSTS:9300

SHGC-150979 (e-PCR)
- UniSTS:173209

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin-protein transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WD repeat, SAM and U-box domain-containing protein 1

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.

mRNA and Protein(s)

NM_001128212.3 → NP_001121684.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_001121684.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.

Source sequence(s)

AK093494, AL040518, CB240898, DR000438

Consensus CDS

CCDS2208.1

UniProtKB/Swiss-Prot

Q53TI9, Q8N6N8, Q8N9V3

Related

ENSP00000352820.4, ENST00000359774.9

Conserved Domains (6) summary

cd09505
Location:328 → 399

SAM_WDSUB1; SAM domain of WDSUB1 proteins

smart00454
Location:332 → 395

SAM; Sterile alpha motif

COG2319
Location:2 → 308

WD40; WD40 repeat [General function prediction only]

cd00200
Location:4 → 309

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam04564
Location:404 → 476

U-box; U-box domain

sd00039
Location:16 → 52

7WD40; WD40 repeat [structural motif]
NM_001128213.2 → NP_001121685.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_001121685.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC008277, AK129983, AL040518, CB240898

Consensus CDS

CCDS2208.1

UniProtKB/Swiss-Prot

Q53TI9, Q8N6N8, Q8N9V3

Related

ENSP00000387078.3, ENST00000409990.7

Conserved Domains (6) summary

cd09505
Location:328 → 399

SAM_WDSUB1; SAM domain of WDSUB1 proteins

smart00454
Location:332 → 395

SAM; Sterile alpha motif

COG2319
Location:2 → 308

WD40; WD40 repeat [General function prediction only]

cd00200
Location:4 → 309

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam04564
Location:404 → 476

U-box; U-box domain

sd00039
Location:16 → 52

7WD40; WD40 repeat [structural motif]
NM_001307994.2 → NP_001294923.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001294923.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks several exons in the central coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1, but maintains the same N- and C-termini.

Source sequence(s)

AK093494, BC029520

Consensus CDS

CCDS77477.1

UniProtKB/Swiss-Prot

Q8N9V3

Related

ENSP00000350866.4, ENST00000358147.8

Conserved Domains (6) summary

cd09505
Location:236 → 307

SAM_WDSUB1; SAM domain of WDSUB1 proteins

smart00454
Location:240 → 303

SAM; Sterile alpha motif

COG2319
Location:3 → 253

WD40; WD40 repeat [General function prediction only]

cd00200
Location:3 → 217

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam04564
Location:312 → 384

U-box; U-box domain

sd00039
Location:16 → 52

7WD40; WD40 repeat [structural motif]
NM_001330274.2 → NP_001317203.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC008277, AC009307, KF456729

Consensus CDS

CCDS82525.1

UniProtKB/TrEMBL

B8ZZF2

Related

ENSP00000386891.1, ENST00000409124.1

Conserved Domains (6) summary

smart00454
Location:332 → 377

SAM; Sterile alpha motif

COG2319
Location:2 → 308

WD40; WD40 repeat [General function prediction only]

cd00200
Location:4 → 309

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:16 → 52

7WD40; WD40 repeat [structural motif]

cl15755
Location:328 → 377

SAM_superfamily; SAM (Sterile alpha motif )

cl17238
Location:378 → 429

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
NM_001330276.2 → NP_001317205.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC008277, AC009307, KF456729
NM_001330277.2 → NP_001317206.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC008277, AC009307, KF456729

Conserved Domains (6) summary

cd09505
Location:241 → 312

SAM_WDSUB1; SAM domain of WDSUB1 proteins

smart00454
Location:245 → 308

SAM; Sterile alpha motif

COG2319
Location:15 → 221

WD40; WD40 repeat [General function prediction only]

cd00200
Location:11 → 224

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam04564
Location:317 → 389

U-box; U-box domain

sd00039
Location:57 → 91

7WD40; WD40 repeat [structural motif]
NM_001330278.2 → NP_001317207.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC008277, AC009307, KF456729

Consensus CDS

CCDS2208.1

UniProtKB/Swiss-Prot

Q53TI9, Q8N6N8, Q8N9V3

Conserved Domains (6) summary

cd09505
Location:328 → 399

SAM_WDSUB1; SAM domain of WDSUB1 proteins

smart00454
Location:332 → 395

SAM; Sterile alpha motif

COG2319
Location:2 → 308

WD40; WD40 repeat [General function prediction only]

cd00200
Location:4 → 309

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam04564
Location:404 → 476

U-box; U-box domain

sd00039
Location:16 → 52

7WD40; WD40 repeat [structural motif]
NM_001330279.2 → NP_001317208.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC008277, AC009307, KF456729

Conserved Domains (6) summary

cd09505
Location:159 → 230

SAM_WDSUB1; SAM domain of WDSUB1 proteins

smart00454
Location:163 → 226

SAM; Sterile alpha motif

COG2319
Location:7 → 155

WD40; WD40 repeat [General function prediction only]

pfam04564
Location:235 → 307

U-box; U-box domain

sd00039
Location:15 → 68

7WD40; WD40 repeat [structural motif]

cl02567
Location:1 → 155

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001330280.2 → NP_001317209.1 WD repeat, SAM and U-box domain-containing protein 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC008277, AC009307, KF456729

Conserved Domains (4) summary

cd09505
Location:90 → 161

SAM_WDSUB1; SAM domain of WDSUB1 proteins

pfam04564
Location:166 → 238

U-box; U-box domain

cd16655
Location:172 → 210

RING-Ubox_WDSUB1_like; U-box domain, a modified RING finger [structural motif]

cl25539
Location:20 → 80

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_152528.3 → NP_689741.2 WD repeat, SAM and U-box domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_689741.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1.

Source sequence(s)

AC008277, AK093494, AL040518, CB240898

Consensus CDS

CCDS2208.1

UniProtKB/Swiss-Prot

Q53TI9, Q8N6N8, Q8N9V3

Related

ENSP00000376545.3, ENST00000392796.7

Conserved Domains (6) summary

cd09505
Location:328 → 399

SAM_WDSUB1; SAM domain of WDSUB1 proteins

smart00454
Location:332 → 395

SAM; Sterile alpha motif

COG2319
Location:2 → 308

WD40; WD40 repeat [General function prediction only]

cd00200
Location:4 → 309

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam04564
Location:404 → 476

U-box; U-box domain

sd00039
Location:16 → 52

7WD40; WD40 repeat [structural motif]

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

159235798..159286703 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443531.1 → XP_047299487.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X9
XM_047443529.1 → XP_047299485.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X7
XM_047443528.1 → XP_047299484.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X6
XM_047443526.1 → XP_047299482.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X4
XM_047443525.1 → XP_047299481.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X3
XM_047443527.1 → XP_047299483.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X5
XM_047443524.1 → XP_047299480.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

B8ZZF2
XM_017003481.2 → XP_016858970.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X2
XM_047443530.1 → XP_047299486.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X8

RNA

XR_001738650.3 RNA Sequence
XR_007069663.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

159695595..159746544 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340816.1 → XP_054196791.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X9
XM_054340814.1 → XP_054196789.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X7
XM_054340813.1 → XP_054196788.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X6
XM_054340811.1 → XP_054196786.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X4
XM_054340810.1 → XP_054196785.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X3
XM_054340812.1 → XP_054196787.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X5
XM_054340808.1 → XP_054196783.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

B8ZZF2
XM_054340809.1 → XP_054196784.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X2
XM_054340815.1 → XP_054196790.1 WD repeat, SAM and U-box domain-containing protein 1 isoform X8