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

Gene ID: 11234, updated on 12-May-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 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
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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)