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    HPS5 Hermansky-Pudlak syndrome 5 [ Homo sapiens (human) ]

    Gene ID: 11234, updated on 26-Jun-2015
    Official Symbol
    HPS5provided by HGNC
    Official Full Name
    Hermansky-Pudlak syndrome 5provided by HGNC
    Primary source
    HGNC:HGNC:17022
    See related
    Ensembl:ENSG00000110756; HPRD:07395; MIM:607521; Vega:OTTHUMG00000166612
    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
    AIBP63
    Summary
    This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    See HPS5 in Epigenomics, MapViewer
    Location:
    11p14
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (18278670..18322498, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18300217..18343751, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5 Neighboring gene serum amyloid A1 Neighboring gene general transcription factor IIH, polypeptide 1, 62kDa Neighboring gene uncharacterized LOC105376577 Neighboring gene microRNA 3159

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hermansky-Pudlak syndrome 5
    MedGen: CN068618 OMIM: 614074 GeneReviews: Hermansky-Pudlak Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1017

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    organelle organization IEA
    Inferred from Electronic Annotation
    more info
     
    pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BLOC-2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Preferred Names
    Hermansky-Pudlak syndrome 5 protein
    Names
    Hermansky-Pudlak syndrome 5 protein
    alpha integrin binding protein 63
    alpha-integrin-binding protein 63
    ruby-eye protein 2 homolog

    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_008877.1 RefSeqGene

      Range
      5001..48505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007216.3NP_009147.3  Hermansky-Pudlak syndrome 5 protein isoform b

      See identical proteins and their annotated locations for NP_009147.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AA886415, AF534402, BC033640
      Consensus CDS
      CCDS7837.1
      UniProtKB/Swiss-Prot
      Q9UPZ3
      Related
      ENSP00000379552, OTTHUMP00000233766, ENST00000396253, OTTHUMT00000390807
    2. NM_181507.1NP_852608.1  Hermansky-Pudlak syndrome 5 protein isoform a

      See identical proteins and their annotated locations for NP_852608.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AA886415, AF534401
      Consensus CDS
      CCDS7836.1
      UniProtKB/Swiss-Prot
      Q9UPZ3
      Related
      ENSP00000265967, OTTHUMP00000233767, ENST00000349215, OTTHUMT00000390808
    3. NM_181508.1NP_852609.1  Hermansky-Pudlak syndrome 5 protein isoform b

      See identical proteins and their annotated locations for NP_852609.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AA886415, AF534400
      Consensus CDS
      CCDS7837.1
      UniProtKB/Swiss-Prot
      Q9UPZ3
      Related
      ENSP00000399590, OTTHUMP00000236630, ENST00000438420, OTTHUMT00000395865

    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_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      18278670..18322498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519865.1XP_011518167.1  

    2. XM_011519863.1XP_011518165.1  

      See identical proteins and their annotated locations for XP_011518165.1

    3. XM_011519866.1XP_011518168.1  

      See identical proteins and their annotated locations for XP_011518168.1

    4. XM_011519868.1XP_011518170.1  

      See identical proteins and their annotated locations for XP_011518170.1

    5. XM_011519864.1XP_011518166.1  

      See identical proteins and their annotated locations for XP_011518166.1

    6. XM_011519867.1XP_011518169.1  

      See identical proteins and their annotated locations for XP_011518169.1

    7. XM_011519862.1XP_011518164.1  

      See identical proteins and their annotated locations for XP_011518164.1

    8. XM_011519869.1XP_011518171.1  

    9. XM_011519871.1XP_011518173.1  

    10. XM_011519870.1XP_011518172.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      18299692..18343209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)