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1: HPS4 Hermansky-Pudlak syndrome 4 [ Homo sapiens ]

GeneID: 89781 updated 4-Sep-2009

[Top][Help]Summary

Official Symbol
HPS4provided by HGNC
Official Full Name
Hermansky-Pudlak syndrome 4provided by HGNC
Primary Source
HGNC:15844
See related
Ensembl:ENSG00000100099; HPRD:05983; MIM:606682
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
LE; KIAA1667; bK1048E9.4; bK1048E9.5; HPS4
Summary
Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Multiple transcript variants encoding different isoforms have been found for this gene. [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. HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
PubMed 4. Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis.
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. identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
PubMed 7. identification of mutations which establish HPS4 as important in Herman-Pudlak syndrome, and identification of mouse homolog light-ear gene
Submit: New GeneRIF Correction

[Top][Help]General gene information

Markers

PMC156606P1(e-PCR)
Links: UniSTS:271408
D22S300(e-PCR)
Links: UniSTS:64605
D22S560(e-PCR)
Links: UniSTS:83296
D1S1423(e-PCR)
Links: UniSTS:149619
WI-14276(e-PCR)
Links: UniSTS:82859
WI-11744(e-PCR)
Links: UniSTS:17887
RH11272(e-PCR)
Links: UniSTS:87272
HPS4__6584(e-PCR)
Links: UniSTS:468463
G20318(e-PCR)
Links: UniSTS:5876
A005L38(e-PCR)
Links: UniSTS:5877
NIB1482(e-PCR)
Links: UniSTS:40446

Phenotypes

Hermansky-Pudlak syndrome 4
MIM: 203300

Homology

Homologs of the HPS4 gene The HPS4 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.


Map Viewer (Mouse, Rat)

[Top][Help]General protein information

Preferred Names
light ear protein
Names
light ear protein
OTTHUMP00000198860

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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_009763.1 RefSeqGene

    Range
    5000..37374
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022081.4 → NP_071364.4  light ear protein isoform a

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AL365512,AL713795,BC028625,BM975247
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    Q9NQG7

  2. NM_152841.1 → NP_690054.1  light ear protein isoform b

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. This results in translation initiation from a downstream ATG and an isoform (b) with a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AL365512,BM975247
    Consensus CDS
    CCDS46677.1
    UniProtKB/Swiss-Prot
    Q9NQG7

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_000022.10

    Range
    26847445..26879819, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_011520.12 

    Range
    6238014..6270388, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000065.1

    Range
    10651341..10683693, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_927628.1 

    Range
    4917535..4949887, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000154.1

    Range
    9795019..9827372, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838745.1 

    Range
    4922152..4954505, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

 

  1. NM_152840.1: Suppressed sequence

    Description
    NM_152840.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

  2. NM_152842.1: Suppressed sequence

    Description
    NM_152842.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

  3. NM_152843.1: Suppressed sequence

    Description
    NM_152843.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   CH471095.1   EAW59717.1
       EAW59718.1
       EAW59719.1
       EAW59720.1
  genomic   Z99714.2   CAI17880.1
  mRNA   AB051454.1   BAB33337.1
  mRNA   AK054717.1   None
  mRNA   AK057648.1   BAB71540.1
  mRNA   AK095406.1   BAG53049.1
  mRNA   AK097529.1   None
  mRNA   AK097886.1   None
  mRNA   AK123691.1   None
  mRNA   AK290211.1   BAF82900.1
  mRNA   AL365512.1   CAB97208.1
  mRNA   AL713795.1   CAD28549.1
  mRNA   AY043416.1   AAK95330.1
  mRNA   BC028625.1   None
  mRNA   BC035614.1   None
  mRNA   BC050285.1   None
  mRNA   BC065030.1   AAH65030.1
  mRNA   BM975247.1   None
  mRNA   CR456392.1   CAG30278.1
  mRNA   CR601317.1   None
  other-genetic   CU012967.1   CAK54398.1
  other-genetic   CU013255.1   CAK54697.1
Protein Accession   Links
Q6ICH6   GenPept   UniProtKB/TrEMBL:Q6ICH6
Q6P1K3   GenPept   UniProtKB/TrEMBL:Q6P1K3
Q9NQG7.2   GenPept   UniProtKB/Swiss-Prot:Q9NQG7

[Top][Help]Additional Links