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HPS3 Hermansky-Pudlak syndrome 3 [ Homo sapiens (human) ]

Gene ID: 84343, updated on 25-Jul-2015
Official Symbol
HPS3provided by HGNC
Official Full Name
Hermansky-Pudlak syndrome 3provided by HGNC
Primary source
HGNC:HGNC:15597
See related
Ensembl:ENSG00000163755; HPRD:05835; 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
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]
Orthologs
See HPS3 in Epigenomics, MapViewer
Location:
3q24
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (149129584..149173518)
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 glycogenin 1 Neighboring gene helicase-like transcription factor Neighboring gene HLTF antisense RNA 1 Neighboring gene ceruloplasmin (ferroxidase) Neighboring gene uncharacterized LOC101927942 Neighboring gene ceruloplasmin and hephaestin-like 1 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22704, DKFZp686F0413

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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 3 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_009847.1 RefSeqGene

    Range
    5001..48935
    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/TrEMBL
    G5E9V4
    UniProtKB/Swiss-Prot
    Q969F9
    Conserved Domains (3) summary
    pfam14761
    Location:373
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:89476
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:486839
    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, OTTHUMP00000215796, ENST00000296051, OTTHUMT00000356151
    Conserved Domains (3) summary
    pfam14761
    Location:3213
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:254641
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:6511004
    HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

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_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    149129584..149173518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713788.1XP_006713851.1  

    Conserved Domains (3) summary
    pfam14761
    Location:3213
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:254641
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:651933
    HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal
  2. XM_005247834.3XP_005247891.1  

    Conserved Domains (3) summary
    pfam14761
    Location:3213
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:254641
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:651763
    HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal
  3. XM_011513236.1XP_011511538.1  

    Related
    ENSP00000418230, OTTHUMP00000215797, ENST00000460120, OTTHUMT00000356153
    Conserved Domains (3) summary
    pfam14761
    Location:373
    HPS3_N; Hermansky-Pudlak syndrome 3
    pfam14762
    Location:89476
    HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
    pfam14763
    Location:486839
    HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

RNA

  1. XR_924201.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    148810445..148854378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)