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HPS4

CANCER ATLAS

Gene description

 Hermansky-Pudlak syndrome 4

Protein class

 Disease related genes, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA050189
CAB033106

GENE INFORMATION

Gene name

 HPS4 (HGNC Symbol)

Synonyms

 BLOC3S2, KIAA1667, LE

Description

 Hermansky-Pudlak syndrome 4 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Chromosome

 22

Cytoband

 q12.1

Chromosome location (bp)

 26443423 - 26483837

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000100099 (version 83.38)

Entrez gene

 89781

UniProt

 Q9NQG7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NQG7

Antibodypedia

 HPS4 antibodies

PROTEIN BROWSER
HPS4-005
HPS4-006
HPS4-008
HPS4-022

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HPS4-005
ENSP00000381213
ENST00000398145
Q9NQG7 [Direct mapping]
Hermansky-Pudlak syndrome 4 protein
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0006605 [protein targeting]
GO:0006996 [organelle organization]
GO:0007040 [lysosome organization]
GO:0007596 [blood coagulation]
GO:0007599 [hemostasis]
GO:0016020 [membrane]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0030318 [melanocyte differentiation]
GO:0031085 [BLOC-3 complex]
GO:0042470 [melanosome]
GO:0042803 [protein homodimerization activity]
GO:0042827 [platelet dense granule]
GO:0046983 [protein dimerization activity]
GO:0048075 [positive regulation of eye pigmentation]
GO:0050821 [protein stabilization]
GO:1903955 [positive regulation of protein targeting to mitochondrion]
Show all
 708 aa
76.9 kDa 		No 0
HPS4-006
ENSP00000338457
ENST00000336873
Q9NQG7 [Direct mapping]
Hermansky-Pudlak syndrome 4 protein
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0006605 [protein targeting]
GO:0007040 [lysosome organization]
GO:0007599 [hemostasis]
GO:0016020 [membrane]
GO:0031085 [BLOC-3 complex]
GO:0042470 [melanosome]
GO:0042803 [protein homodimerization activity]
GO:0042827 [platelet dense granule]
GO:0046983 [protein dimerization activity]
GO:0048075 [positive regulation of eye pigmentation]
GO:0050821 [protein stabilization]
GO:1903955 [positive regulation of protein targeting to mitochondrion]
Show all
 708 aa
76.9 kDa 		No 0
HPS4-008
ENSP00000384185
ENST00000402105
Q9NQG7 [Direct mapping]
Hermansky-Pudlak syndrome 4 protein
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0006605 [protein targeting]
GO:0007040 [lysosome organization]
GO:0007599 [hemostasis]
GO:0016020 [membrane]
GO:0031085 [BLOC-3 complex]
GO:0042470 [melanosome]
GO:0042803 [protein homodimerization activity]
GO:0042827 [platelet dense granule]
GO:0046983 [protein dimerization activity]
GO:0048075 [positive regulation of eye pigmentation]
GO:0050821 [protein stabilization]
GO:1903955 [positive regulation of protein targeting to mitochondrion]
Show all
 703 aa
76.4 kDa 		No 0
HPS4-022
ENSP00000415081
ENST00000422379
F1LLU8 [Direct mapping]
Hermansky-Pudlak syndrome 4 protein
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 481 aa
52.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.