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HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [ Homo sapiens (human) ]

Gene ID: 79803, updated on 17-Jun-2019

Summary

Official Symbol
HPS6provided by HGNC
Official Full Name
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3provided by HGNC
Primary source
HGNC:HGNC:18817
See related
Ensembl:ENSG00000166189 MIM:607522
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
BLOC2S3
Summary
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See HPS6 in Genome Data Viewer
Location:
10q24.32
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (102065367..102068038)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103825124..103827795)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984029 Neighboring gene uncharacterized LOC101927445 Neighboring gene armadillo like helical domain containing 3 Neighboring gene LIM domain binding 1 Neighboring gene PPARG related coactivator 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV Vif interacts with HPS6 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22501, MGC20522

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation IEA
Inferred from Electronic Annotation
more info
 
lysosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
organelle organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
BLOC-2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BLOC-2 complex IPI
Inferred from Physical Interaction
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
Hermansky-Pudlak syndrome 6 protein
Names
Hermansky-Pudlak syndrome-6 protein (HPS6)
ruby-eye protein homolog

NCBI Reference Sequences (RefSeq)

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

  1. NG_012029.1 RefSeqGene

    Range
    4978..7649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_564

mRNA and Protein(s)

  1. NM_024747.5NP_079023.2  Hermansky-Pudlak syndrome 6 protein

    See identical proteins and their annotated locations for NP_079023.2

    Status: REVIEWED

    Source sequence(s)
    BC011594, BC080564, BI761726
    Consensus CDS
    CCDS7527.1
    UniProtKB/Swiss-Prot
    Q86YV9
    Related
    ENSP00000299238.5, ENST00000299238.6
    Conserved Domains (1) summary
    pfam15702
    Location:1763
    HPS6; Hermansky-Pudlak syndrome 6 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    102065367..102068038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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