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HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 [ Homo sapiens (human) ]

Gene ID: 84343, updated on 2-Oct-2018

Summary

Official Symbol
HPS3provided by HGNC
Official Full Name
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1provided by HGNC
Primary source
HGNC:HGNC:15597
See related
Ensembl:ENSG00000163755 MIM:606118; Vega:OTTHUMG00000159548
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
SUTAL; BLOC2S1
Summary
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Expression
Broad expression in liver (RPKM 82.9), lymph node (RPKM 10.8) and 18 other tissues See more
Orthologs

Genomic context

See HPS3 in Genome Data Viewer
Location:
3q24
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (149129584..149173196)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (148847371..148891305)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene helicase like transcription factor Neighboring gene HLTF antisense RNA 1 Neighboring gene mediator complex subunit 28 pseudogene 2 Neighboring gene ceruloplasmin Neighboring gene uncharacterized LOC101927942 Neighboring gene ceruloplasmin and hephaestin-like 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22704, DKFZp686F0413

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
organelle organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pigmentation IEA
Inferred from Electronic Annotation
more info
 
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 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
Hermansky-Pudlak syndrome 3 protein

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_009847.1 RefSeqGene

    Range
    5001..48613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308258.1NP_001295187.1  Hermansky-Pudlak syndrome 3 protein isoform 2

    See identical proteins and their annotated locations for NP_001295187.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
    Source sequence(s)
    AY033141, BC022062, CB241738
    Consensus CDS
    CCDS77836.1
    UniProtKB/Swiss-Prot
    Q969F9
    UniProtKB/TrEMBL
    G5E9V4
    Related
    ENSP00000418230.1, OTTHUMP00000215797, ENST00000460120.5, OTTHUMT00000356153
    Conserved Domains (3) summary
    pfam14761
    Location:374
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:91474
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:488836
    HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal
  2. NM_032383.4NP_115759.2  Hermansky-Pudlak syndrome 3 protein isoform 1

    See identical proteins and their annotated locations for NP_115759.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY033141, BC022062, CB241738
    Consensus CDS
    CCDS3140.1
    UniProtKB/Swiss-Prot
    Q969F9
    Related
    ENSP00000296051.2, OTTHUMP00000215796, ENST00000296051.6, OTTHUMT00000356151
    Conserved Domains (3) summary
    pfam14761
    Location:3212
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:256639
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:6531001
    HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    149129584..149173196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007323.2XP_016862812.1  Hermansky-Pudlak syndrome 3 protein isoform X1

  2. XM_005247834.4XP_005247891.1  Hermansky-Pudlak syndrome 3 protein isoform X2

    Conserved Domains (3) summary
    pfam14761
    Location:3212
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:256639
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:653763
    HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

RNA

  1. XR_001740328.2 RNA Sequence

  2. XR_001740326.2 RNA Sequence

  3. XR_001740327.2 RNA Sequence

  4. XR_924201.3 RNA Sequence

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