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    HPS1 Hermansky-Pudlak syndrome 1 [ Homo sapiens (human) ]

    Gene ID: 3257, updated on 13-Aug-2015
    Official Symbol
    HPS1provided by HGNC
    Official Full Name
    Hermansky-Pudlak syndrome 1provided by HGNC
    Primary source
    HGNC:HGNC:5163
    See related
    Ensembl:ENSG00000107521; HPRD:05403; MIM:604982; Vega:OTTHUMG00000018876
    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
    HPS
    Summary
    This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
    Orthologs
    See HPS1 in Epigenomics, MapViewer
    Location:
    10q23.1-q23.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (98416198..98446963, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (100175955..100206720, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378449 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 2 Neighboring gene uncharacterized LOC101927278 Neighboring gene microRNA 1287 Neighboring gene microRNA 4685 Neighboring gene heparanase 2 (inactive) Neighboring gene microRNA 6507 Neighboring gene ADP-ribosylation factor-like 5A pseudogene 2

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hermansky-Pudlak syndrome 1
    MedGen: C2931875 OMIM: 203300 GeneReviews: Hermansky-Pudlak Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC5277

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    lysosome organization TAS
    Traceable Author Statement
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BLOC-3 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasmic membrane-bounded vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    Hermansky-Pudlak syndrome 1 protein

    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_009646.1 RefSeqGene

      Range
      4985..35750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000195.4NP_000186.2  Hermansky-Pudlak syndrome 1 protein isoform a

      See identical proteins and their annotated locations for NP_000186.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL139243, AL833734, BF447504, DA385131, DA479757, U65676
      Consensus CDS
      CCDS7475.1
      UniProtKB/TrEMBL
      Q658M9
      UniProtKB/Swiss-Prot
      Q92902
      Related
      ENSP00000355310, OTTHUMP00000020246, ENST00000361490, OTTHUMT00000049778
    2. NM_001311345.1NP_001298274.1  Hermansky-Pudlak syndrome 1 protein isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initaites translation at a downstream start codon, compared to variant 1. It encodes isoform e, which is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AL139243, BC002514, BF447504, DA385131, DA479757
    3. NM_182639.3NP_872577.1  Hermansky-Pudlak syndrome 1 protein isoform c

      See identical proteins and their annotated locations for NP_872577.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate 3' exon structure compared to variant 1. It encodes isoform c, which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC000175, BI966698, DA385131, DA479757, U96721
      Consensus CDS
      CCDS7476.1
      UniProtKB/Swiss-Prot
      Q92902
      Related
      ENSP00000343638, OTTHUMP00000020245, ENST00000338546, OTTHUMT00000049777

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      98416198..98446963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269756.2XP_005269813.1  

      See identical proteins and their annotated locations for XP_005269813.1

      UniProtKB/Swiss-Prot
      Q92902
    2. XM_005269755.2XP_005269812.1  

      See identical proteins and their annotated locations for XP_005269812.1

      UniProtKB/Swiss-Prot
      Q92902
      Related
      ENSP00000326649, OTTHUMP00000020244, ENST00000325103, OTTHUMT00000049776
    3. XM_006717818.1XP_006717881.1  

      Conserved Domains (1) summary
      PRK12323
      Location:86263
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional
    4. XM_005269758.1XP_005269815.1  

      UniProtKB/Swiss-Prot
      Q92902
    5. XM_005269761.1XP_005269818.1  

      See identical proteins and their annotated locations for XP_005269818.1

    6. XM_005269759.1XP_005269816.1  

    7. XM_005269760.3XP_005269817.1  

      See identical proteins and their annotated locations for XP_005269817.1

    8. XM_005269757.3XP_005269814.1  

      See identical proteins and their annotated locations for XP_005269814.1

      UniProtKB/Swiss-Prot
      Q92902

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      100457816..100488565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182637.1: Suppressed sequence

      Description
      NM_182637.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_182638.1: Suppressed sequence

      Description
      NM_182638.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.