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1: HPS1 Hermansky-Pudlak syndrome 1 [ Homo sapiens ]

GeneID: 3257 updated 4-Sep-2009

[Top][Help]Summary

Official Symbol
HPS1provided by HGNC
Official Full Name
Hermansky-Pudlak syndrome 1provided by HGNC
Primary Source
HGNC:5163
Locus Tag
RP11-439D8.1
See related
Ensembl:ENSG00000107521; HPRD:05403; MIM:604982
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; MGC5277; HPS1
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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq]

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

(minus strand) 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 gene-disease association. (HuGE Navigator)
PubMed 2. Observational study of genotype prevalence. (HuGE Navigator)
PubMed 3. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
PubMed 4. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1.
PubMed 5. observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles
PubMed 6. Four novel mutations were discovered and the diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications.
PubMed 7. Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)
PubMed 8. identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
Submit: New GeneRIF Correction

[Top][Help]General gene information

Markers

RH11263(e-PCR)
Links: UniSTS:85613
RH80341(e-PCR)
Links: UniSTS:87177
RH47149(e-PCR)
Links: UniSTS:47066

Phenotypes

Hermansky-Pudlak syndrome 1
MIM: 203300

Related pseudogene(s)

1 foundReview record(s) in Gene

Homology

Homologs of the HPS1 gene The HPS1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.


Map Viewer (Mouse, Rat)

[Top][Help]General protein information

Preferred Names
Hermansky-Pudlak syndrome 1 protein
Names
Hermansky-Pudlak syndrome 1 protein
Hermansky-Pudlak syndrome type 1

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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_009646.1 RefSeqGene

    Range
    5000..35748
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL702912,U65676
    Consensus CDS
    CCDS7475.1
    UniProtKB/TrEMBL
    Q8WXE5
    UniProtKB/Swiss-Prot
    Q92902

  2. NM_182639.1 → NP_872577.1  Hermansky-Pudlak syndrome 1 protein isoform c

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate 3' coding region compared to variant 1. It encodes isoform c, which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL702912,BC000175,BQ100915
    Consensus CDS
    CCDS7476.1
    UniProtKB/TrEMBL
    Q5TAA3
    UniProtKB/Swiss-Prot
    Q92902

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_000010.10

    Range
    100175955..100206703, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_030059.13 

    Range
    50980419..51011167, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000053.1

    Range
    93912576..93943329, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_924884.1 

    Range
    10915393..10946146, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000142.1

    Range
    93800791..93831456
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838005.2 

    Range
    288365..319030
    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.

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AF450133.1   AAL50684.1
  genomic   AL139243.11   CAI14150.1
       CAI14151.1
       CAI14152.1
       CAI14153.1
  genomic   CH471066.2   EAW49877.1
       EAW49878.1
       EAW49879.1
       EAW49880.1
       EAW49881.1
       EAW49882.1
       EAW49883.1
  genomic   U79136.1   AAB70662.1
  mRNA   AK295821.1   BAG58638.1
  mRNA   AL702912.1   None
  mRNA   AL833734.1   CAH56230.1
  mRNA   BC000175.2   AAH00175.1
  mRNA   BC002514.2   None
  mRNA   BC127087.1   None
  mRNA   BI518436.1   None
  mRNA   BQ100915.1   None
  mRNA   CR592714.1   None
  mRNA   CR593063.1   None
  mRNA   CR593191.1   None
  mRNA   CR596924.1   None
  mRNA   CR598347.1   None
  mRNA   CR600212.1   None
  mRNA   CR609635.1   None
  mRNA   CR620028.1   None
  mRNA   CR625584.1   None
  mRNA   U65676.1   AAB17869.1
  mRNA   U96721.1   AAC52074.1
  other-genetic   BC166631.1   AAI66631.1
Protein Accession   Links
Q5TAA3   GenPept   UniProtKB/TrEMBL:Q5TAA3
Q5TAA8   GenPept   UniProtKB/TrEMBL:Q5TAA8
Q658M9   GenPept   UniProtKB/TrEMBL:Q658M9
Q8WXE5   GenPept   UniProtKB/TrEMBL:Q8WXE5
Q92902.2   GenPept   UniProtKB/Swiss-Prot:Q92902

[Top][Help]Additional Links