HPS4 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0007040Biological processlysosome organization
GO_0046907Biological processintracellular transport
GO_0048075Biological processpositive regulation of eye pigmentation
GO_0007596Biological processblood coagulation
GO_0006605Biological processprotein targeting
GO_0007599Biological processhemostasis
GO_0016192Biological processvesicle-mediated transport
GO_0030318Biological processmelanocyte differentiation
GO_0060155Biological processplatelet dense granule organization
GO_0050821Biological processprotein stabilization
GO_1903955Biological processpositive regulation of protein targeting to mitochondrion
GO_1903232Biological processmelanosome assembly
GO_0031410Cellular componentcytoplasmic vesicle
GO_0016020Cellular componentmembrane
GO_0005764Cellular componentlysosome
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0031085Cellular componentBLOC-3 complex
GO_0042827Cellular componentplatelet dense granule
GO_0042470Cellular componentmelanosome
GO_0005765Cellular componentlysosomal membrane
GO_0042803Molecular functionprotein homodimerization activity
GO_0005085Molecular functionguanyl-nucleotide exchange factor activity
GO_0031267Molecular functionsmall GTPase binding
GO_0046983Molecular functionprotein dimerization activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameHPS4
Protein nameBLOC-3 complex member HPS4 (Hermansky-Pudlak syndrome 4 protein) (Light-ear protein homolog)
Hermansky-Pudlak syndrome 4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Hermansky-Pudlak syndrome 4, isoform CRA_b (cDNA FLJ77277, highly similar to Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA)
SynonymshCG_41138
KIAA1667
DescriptionFUNCTION: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 . .

AccessionsENST00000699240.1
ENST00000699243.1
F8WC53
ENST00000699247.1
A0A8V8TPP5
ENST00000699244.1
A0A8V8TMZ0
ENST00000699242.1
A8K2E6
A0A8V8TMW9
A0A8V8TPP9
A0A8V8TMY3
F1LLU8
ENST00000699236.1
ENST00000473782.2 [Q9NQG7-1]
ENST00000699235.1
ENST00000699251.1
ENST00000483631.2
ENST00000402105.7 [Q9NQG7-3]
ENST00000491142.2 [Q9NQG7-1]
A0A8V8TPB5
ENST00000699241.1
ENST00000699246.1
ENST00000336873.9 [Q9NQG7-1]
E5RG08
ENST00000398145.7 [Q9NQG7-1]
Q9NQG7
A0A8V8TNE4
ENST00000699234.1
ENST00000429411.5
Q6P1K3
A0A8V8TN06
A0A8V8TNF3
ENST00000464362.5
F8VYA9
ENST00000699227.1
A0A8V8TN01
ENST00000699237.1
ENST00000439453.5
ENST00000422379.3
ENST00000699249.1
A0A8V8TPB3
ENST00000699250.1
ENST00000699238.1