HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HPS4provided by HGNC
Official Full Name: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2provided by HGNC
Primary source: HGNC:HGNC:15844
See related: Ensembl:ENSG00000100099 MIM:606682; AllianceGenome:HGNC:15844
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: LE; BLOC3S2
Summary: This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Expression: Ubiquitous expression in testis (RPKM 8.6), skin (RPKM 8.1) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 22q12.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (26443109..26483863, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (26905547..26946273, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (26839075..26879829, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38.
Title: BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia.
Title: Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
These results suggest that the HPS4 gene confers a susceptibility to schizophrenia.
Title: An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.
Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
Title: Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles.
Title: Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
Observational study of gene-disease association. (HuGE Navigator)
Title: Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.
HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
Title: Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis.
Title: Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles
Title: BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

Go to the top of the page Help

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
Hermansky-Pudlak syndrome 4 MedGen: C3484357 OMIM: 614073 GeneReviews: Hermansky-Pudlak Syndrome	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

D22S300 (e-PCR)
- UniSTS:64605

D22S560 (e-PCR)
- UniSTS:83296

D1S1423 (e-PCR)
- UniSTS:149619

WI-14276 (e-PCR)
- UniSTS:82859

WI-11744 (e-PCR)
- UniSTS:17887

RH11272 (e-PCR)
- UniSTS:87272

HPS4__6584 (e-PCR)
- UniSTS:468463

G20318 (e-PCR)
- UniSTS:5876

A005L38 (e-PCR)
- UniSTS:5877

NIB1482 (e-PCR)
- UniSTS:40446

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in hemostasis	TAS Traceable Author Statement more info	PubMed
involved_in intracellular transport	NAS Non-traceable Author Statement more info	PubMed
involved_in lysosome organization	IDA Inferred from Direct Assay more info	PubMed
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in melanosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of eye pigmentation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	HMP more info	PubMed
involved_in protein stabilization	IPI Inferred from Physical Interaction more info	PubMed
involved_in protein targeting	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-3 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in platelet dense granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: BLOC-3 complex member HPS4

Names: light-ear protein homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_009763.2 RefSeqGene

Range

5001..37982

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_590

mRNA and Protein(s)

NM_001349896.1 → NP_001336825.1 BLOC-3 complex member HPS4 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes isoform a.

Source sequence(s)

Z99714

Consensus CDS

CCDS13835.1

UniProtKB/Swiss-Prot

B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38

UniProtKB/TrEMBL

Q6P1K3

Related

ENSP00000338457.5, ENST00000336873.9

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_001349898.2 → NP_001336827.1 BLOC-3 complex member HPS4 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (4) encodes isoform a.

Source sequence(s)

Z99714

Consensus CDS

CCDS13835.1

UniProtKB/Swiss-Prot

B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38

UniProtKB/TrEMBL

Q6P1K3

Related

ENSP00000514223.1, ENST00000473782.2

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_001349899.2 → NP_001336828.1 BLOC-3 complex member HPS4 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (7) encodes isoform a.

Source sequence(s)

Z99714

Consensus CDS

CCDS13835.1

UniProtKB/Swiss-Prot

B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38

UniProtKB/TrEMBL

Q6P1K3

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_001349900.2 → NP_001336829.1 BLOC-3 complex member HPS4 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (8) encodes isoform c.

Source sequence(s)

Z99714

Consensus CDS

CCDS93140.1

UniProtKB/TrEMBL

F1LLU8, Q6P1K3

Conserved Domains (1) summary

cl28271
Location:432 → 549

dnaA; chromosomal replication initiation protein; Provisional
NM_001349901.1 → NP_001336830.1 BLOC-3 complex member HPS4 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (9) encodes isoform c.

Source sequence(s)

Z99714

Consensus CDS

CCDS93140.1

UniProtKB/TrEMBL

F1LLU8, Q6P1K3

Related

ENSP00000415081.3, ENST00000422379.3

Conserved Domains (1) summary

cl28271
Location:432 → 549

dnaA; chromosomal replication initiation protein; Provisional
NM_001349902.1 → NP_001336831.1 BLOC-3 complex member HPS4 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (10) encodes isoform d.

Source sequence(s)

Z99714

Consensus CDS

CCDS93138.1

UniProtKB/TrEMBL

A0A8V8TMY3, Q6P1K3

Related

ENSP00000514237.1, ENST00000699250.1

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_001349903.2 → NP_001336832.1 BLOC-3 complex member HPS4 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (11) encodes isoform d.

Source sequence(s)

Z99714

Consensus CDS

CCDS93138.1

UniProtKB/TrEMBL

A0A8V8TMY3, Q6P1K3

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_001349904.2 → NP_001336833.1 BLOC-3 complex member HPS4 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (12) encodes isoform e.

Source sequence(s)

Z99714

UniProtKB/TrEMBL

Q6P1K3

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_001349905.1 → NP_001336834.1 BLOC-3 complex member HPS4 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (13) encodes isoform e.

Source sequence(s)

Z99714

UniProtKB/TrEMBL

Q6P1K3

Related

ENST00000699228.1

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_001410832.1 → NP_001397761.1 BLOC-3 complex member HPS4 isoform f

Status: REVIEWED

Source sequence(s)

Z99714

Consensus CDS

CCDS93139.1

UniProtKB/TrEMBL

A0A8V8TN06
NM_022081.6 → NP_071364.4 BLOC-3 complex member HPS4 isoform a

See identical proteins and their annotated locations for NP_071364.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AK290211, AY043416, BC065030, BQ185676, Z99714

Consensus CDS

CCDS13835.1

UniProtKB/Swiss-Prot

B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38

UniProtKB/TrEMBL

Q6P1K3

Related

ENSP00000381213.2, ENST00000398145.7

Conserved Domains (1) summary

cl28271
Location:414 → 531

dnaA; chromosomal replication initiation protein; Provisional
NM_152841.2 → NP_690054.1 BLOC-3 complex member HPS4 isoform b

See identical proteins and their annotated locations for NP_690054.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AL365512, BQ185676, Z99714

Consensus CDS

CCDS46677.1

UniProtKB/TrEMBL

Q6P1K3

Related

ENSP00000384185.3, ENST00000402105.7

Conserved Domains (1) summary

PRK14086
Location:409 → 526

dnaA; chromosomal replication initiation protein; Provisional

RNA

NR_073135.1 RNA Sequence

Status: REVIEWED

Description

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

Source sequence(s)

AL365512, BC028625, BC050285, BQ185676, Z99714

Related

ENST00000699237.1
NR_073136.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs at the 5' end and contains multiple internal differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AY043416, BC028625, BC035614, BQ185676, Z99714
NR_146311.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (14) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

Z99714

Related

ENST00000699246.1
NR_146312.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (15) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

Z99714

Related

ENST00000699238.1
NR_146313.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (16) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

Z99714

Related

ENST00000699243.1
NR_146314.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (17) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

Z99714

Related

ENST00000699240.1
NR_146315.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (18) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

Z99714
NR_146316.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (19) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

Z99714

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

26443109..26483863 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441572.1 → XP_047297528.1 BLOC-3 complex member HPS4 isoform X7
XM_047441580.1 → XP_047297536.1 BLOC-3 complex member HPS4 isoform X9
XM_047441579.1 → XP_047297535.1 BLOC-3 complex member HPS4 isoform X9
XM_047441574.1 → XP_047297530.1 BLOC-3 complex member HPS4 isoform X7
XM_047441571.1 → XP_047297527.1 BLOC-3 complex member HPS4 isoform X7
XM_047441578.1 → XP_047297534.1 BLOC-3 complex member HPS4 isoform X9
XM_047441573.1 → XP_047297529.1 BLOC-3 complex member HPS4 isoform X7
XM_047441576.1 → XP_047297532.1 BLOC-3 complex member HPS4 isoform X8
XM_011530486.3 → XP_011528788.1 BLOC-3 complex member HPS4 isoform X1

See identical proteins and their annotated locations for XP_011528788.1

UniProtKB/TrEMBL

Q6P1K3

Conserved Domains (1) summary

PRK14086
Location:458 → 575

dnaA; chromosomal replication initiation protein; Provisional
XM_047441583.1 → XP_047297539.1 BLOC-3 complex member HPS4 isoform X10

UniProtKB/TrEMBL

A0A8V8TMY3
XM_047441564.1 → XP_047297520.1 BLOC-3 complex member HPS4 isoform X4

UniProtKB/Swiss-Prot

B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
XM_047441563.1 → XP_047297519.1 BLOC-3 complex member HPS4 isoform X3

UniProtKB/TrEMBL

F1LLU8
XM_047441582.1 → XP_047297538.1 BLOC-3 complex member HPS4 isoform X10

UniProtKB/TrEMBL

A0A8V8TMY3
XM_047441577.1 → XP_047297533.1 BLOC-3 complex member HPS4 isoform X8
XM_047441561.1 → XP_047297517.1 BLOC-3 complex member HPS4 isoform X3

UniProtKB/TrEMBL

F1LLU8

Related

ENSP00000514231.1, ENST00000699242.1
XM_047441575.1 → XP_047297531.1 BLOC-3 complex member HPS4 isoform X8
XM_011530490.4 → XP_011528792.1 BLOC-3 complex member HPS4 isoform X2

UniProtKB/TrEMBL

Q6P1K3

Conserved Domains (1) summary

PRK14086
Location:440 → 557

dnaA; chromosomal replication initiation protein; Provisional
XM_047441581.1 → XP_047297537.1 BLOC-3 complex member HPS4 isoform X10

UniProtKB/TrEMBL

A0A8V8TMY3
XM_047441562.1 → XP_047297518.1 BLOC-3 complex member HPS4 isoform X3

UniProtKB/TrEMBL

F1LLU8
XM_011530496.3 → XP_011528798.1 BLOC-3 complex member HPS4 isoform X13

See identical proteins and their annotated locations for XP_011528798.1

UniProtKB/TrEMBL

B3KTD7

Conserved Domains (1) summary

PRK14086
Location:194 → 311

dnaA; chromosomal replication initiation protein; Provisional
XM_011530495.3 → XP_011528797.1 BLOC-3 complex member HPS4 isoform X12

See identical proteins and their annotated locations for XP_011528797.1

UniProtKB/TrEMBL

B3KTD7

Conserved Domains (1) summary

PRK14086
Location:243 → 360

dnaA; chromosomal replication initiation protein; Provisional
XM_017029053.2 → XP_016884542.1 BLOC-3 complex member HPS4 isoform X11
XM_047441584.1 → XP_047297540.1 BLOC-3 complex member HPS4 isoform X14

UniProtKB/TrEMBL

A0A8V8TPB3

Related

ENSP00000514224.1, ENST00000699235.1
XM_047441568.1 → XP_047297524.1 BLOC-3 complex member HPS4 isoform X6

UniProtKB/TrEMBL

A0A8V8TN06

Related

ENSP00000514238.1, ENST00000699251.1
XM_047441566.1 → XP_047297522.1 BLOC-3 complex member HPS4 isoform X5
XM_047441567.1 → XP_047297523.1 BLOC-3 complex member HPS4 isoform X5
XM_017029046.3 → XP_016884535.1 BLOC-3 complex member HPS4 isoform X6

UniProtKB/TrEMBL

A0A8V8TN06, Q6P1K3
XM_047441565.1 → XP_047297521.1 BLOC-3 complex member HPS4 isoform X5
XM_047441569.1 → XP_047297525.1 BLOC-3 complex member HPS4 isoform X6

UniProtKB/TrEMBL

A0A8V8TN06

RNA

XR_001755364.2 RNA Sequence
XR_007067985.1 RNA Sequence
XR_007067983.1 RNA Sequence
XR_007067986.1 RNA Sequence
XR_007067987.1 RNA Sequence
XR_007067984.1 RNA Sequence
XR_007067989.1 RNA Sequence
XR_007067988.1 RNA Sequence
XR_001755361.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

26905547..26946273 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326103.1 → XP_054182078.1 BLOC-3 complex member HPS4 isoform X9
XM_054326102.1 → XP_054182077.1 BLOC-3 complex member HPS4 isoform X9
XM_054326101.1 → XP_054182076.1 BLOC-3 complex member HPS4 isoform X9
XM_054326097.1 → XP_054182072.1 BLOC-3 complex member HPS4 isoform X7
XM_054326099.1 → XP_054182074.1 BLOC-3 complex member HPS4 isoform X8
XM_054326081.1 → XP_054182056.1 BLOC-3 complex member HPS4 isoform X1
XM_054326106.1 → XP_054182081.1 BLOC-3 complex member HPS4 isoform X10
XM_054326090.1 → XP_054182065.1 BLOC-3 complex member HPS4 isoform X4

UniProtKB/TrEMBL

A8K2E6
XM_054326089.1 → XP_054182064.1 BLOC-3 complex member HPS4 isoform X3
XM_054326084.1 → XP_054182059.1 BLOC-3 complex member HPS4 isoform X1
XM_054326105.1 → XP_054182080.1 BLOC-3 complex member HPS4 isoform X10
XM_054326100.1 → XP_054182075.1 BLOC-3 complex member HPS4 isoform X8
XM_054326087.1 → XP_054182062.1 BLOC-3 complex member HPS4 isoform X3
XM_054326082.1 → XP_054182057.1 BLOC-3 complex member HPS4 isoform X1
XM_054326098.1 → XP_054182073.1 BLOC-3 complex member HPS4 isoform X8
XM_054326085.1 → XP_054182060.1 BLOC-3 complex member HPS4 isoform X2
XM_054326080.1 → XP_054182055.1 BLOC-3 complex member HPS4 isoform X1
XM_054326104.1 → XP_054182079.1 BLOC-3 complex member HPS4 isoform X10
XM_054326088.1 → XP_054182063.1 BLOC-3 complex member HPS4 isoform X3
XM_054326086.1 → XP_054182061.1 BLOC-3 complex member HPS4 isoform X2
XM_054326083.1 → XP_054182058.1 BLOC-3 complex member HPS4 isoform X1
XM_054326095.1 → XP_054182070.1 BLOC-3 complex member HPS4 isoform X6
XM_054326092.1 → XP_054182067.1 BLOC-3 complex member HPS4 isoform X5
XM_054326093.1 → XP_054182068.1 BLOC-3 complex member HPS4 isoform X5
XM_054326094.1 → XP_054182069.1 BLOC-3 complex member HPS4 isoform X6
XM_054326091.1 → XP_054182066.1 BLOC-3 complex member HPS4 isoform X5
XM_054326096.1 → XP_054182071.1 BLOC-3 complex member HPS4 isoform X6

RNA

XR_008485429.1 RNA Sequence
XR_008485424.1 RNA Sequence
XR_008485422.1 RNA Sequence
XR_008485425.1 RNA Sequence
XR_008485426.1 RNA Sequence
XR_008485423.1 RNA Sequence
XR_008485428.1 RNA Sequence
XR_008485427.1 RNA Sequence
XR_008485421.1 RNA Sequence
XR_008485420.1 RNA Sequence
XR_008485419.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152840.1: Suppressed sequence

Description

NM_152840.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
NM_152842.1: Suppressed sequence

Description

NM_152842.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
NM_152843.1: Suppressed sequence

Description

NM_152843.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.