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1: HPS3 Hermansky-Pudlak syndrome 3 [ Homo sapiens ]

GeneID: 84343 updated 12-Aug-2009

[Top][Help]Summary

Official Symbol
HPS3provided by HGNC
Official Full Name
Hermansky-Pudlak syndrome 3provided by HGNC
Primary Source
HGNC:15597
See related
Ensembl:ENSG00000163755; HPRD:05835; MIM:606118
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; FLJ22704; DKFZp686F0413; HPS3
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. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Observational study of genotype prevalence. (HuGE Navigator)
PubMed 2. HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
PubMed 3. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease.
PubMed 4. Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)
PubMed 5. A specific subset of melanocyte proteins are aberrantly trafficked throughout the HPS-3 melanocyte and may be responsible for the reduction in melanin synthesis.
PubMed 6. HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3.
PubMed 7. mutational analysis in Ashkenazi Jews with Hermansky-Pudlak syndrome 3
Submit: New GeneRIF Correction

[Top][Help]General gene information

Markers

SHGC-77445(e-PCR)
Links: UniSTS:64034
RH46381(e-PCR)
Links: UniSTS:22838
D3S3906(e-PCR)
Links: UniSTS:17249
HPS3__6583(e-PCR)
Links: UniSTS:463987
SHGC-77441(e-PCR)
Links: UniSTS:53650
MARC_21131-21132:1046275169:1(e-PCR)
Links: UniSTS:268487
SHGC-81259(e-PCR)
Links: UniSTS:102388

Phenotypes

Hermansky-Pudlak syndrome 3
MIM: 203300

Homology

Homologs of the HPS3 gene The HPS3 gene is conserved in chimpanzee, cow, mouse, rat, chicken, and zebrafish.


Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Process Evidence
organelle organization IEA   
pigmentation IEA   
Component Evidence
cytoplasm IEA   

[Top][Help]General protein information

Preferred Names
Hermansky-Pudlak syndrome 3 protein
Names
Hermansky-Pudlak syndrome 3 protein

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_009847.1 RefSeqGene

    Range
    5000..48934
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032383.3 → NP_115759.2  Hermansky-Pudlak syndrome 3 protein

    Source sequence(s)
    AY033141,BG618578
    Consensus CDS
    CCDS3140.1
    UniProtKB/TrEMBL
    A8K6G6
    UniProtKB/Swiss-Prot
    Q969F9

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000003.11

    Range
    148847370..148891304
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_005612.16 

    Range
    55342516..55386450
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000046.1

    Range
    147257895..147301826
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_921807.1 

    Range
    55443565..55487496
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000135.1

    Range
    146218659..146262596, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838884.2 

    Range
    45166434..45210371, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC021059.25  (160884..164075)   None
  genomic   AC131209.2  (6924..47666)   None
  genomic   AF375663.1   AAK84131.1
  genomic   CH471052.2   EAW78885.1
       EAW78886.1
       EAW78887.1
       EAW78888.1
  mRNA   AK026357.1   BAB15459.1
  mRNA   AK055245.1   None
  mRNA   AK056575.1   BAB71221.1
  mRNA   AK291631.1   BAF84320.1
  mRNA   AK298478.1   BAG60689.1
  mRNA   AL832735.1   None
  mRNA   AL833878.1   CAD38735.1
  mRNA   AY033141.1   AAK53457.1
  mRNA   BC016901.1   AAH16901.1
  mRNA   BC022062.2   AAH22062.2
  mRNA   BC040359.1   AAH40359.1
  mRNA   BG618578.1   None
  mRNA   CR600710.1   None
  mRNA   CR622327.1   None
  other-genetic   DQ891178.2   ABM82104.1
  other-genetic   DQ894360.2   ABM85286.1
Protein Accession   Links
Q8N3N1   GenPept   UniProtKB/TrEMBL:Q8N3N1
Q969F9.1   GenPept   UniProtKB/Swiss-Prot:Q969F9

[Top][Help]Additional Links