HPS4

HPS4

Identifiers

HPS4, LE, BLOC3S2, biogenesis of lysosomal organelles complex 3 subunit 2

External IDs

MGI: 2177742 HomoloGene: 11123 GeneCards: HPS4

Gene ontology
Molecular function	• protein binding • protein homodimerization activity • protein dimerization activity • guanyl-nucleotide exchange factor activity • Rab GTPase binding
Cellular component	• cytoplasm • melanosome • platelet dense granule • lysosome • BLOC-3 complex • membrane • cytosol • cytoplasmic vesicle
Biological process	• hemostasis • protein targeting • protein stabilization • lysosome organization • blood coagulation • melanocyte differentiation • organelle organization • positive regulation of eye pigmentation • positive regulation of protein targeting to mitochondrion • melanosome assembly • positive regulation of GTPase activity • membrane organization
Sources:Amigo / QuickGO

RNA expression pattern

PBB GE HPS4 54037 at fs.png

PBB GE HPS4 218402 s at fs.png

More reference expression data

Orthologs

Species

Human

Mouse


89781


192232


ENSG00000100099


ENSMUSG00000042328


Q9NQG7


Q99KG7

RefSeq (mRNA)

NM_022081 NM_152840 NM_152841 NM_152842 NM_152843
NM_001349896 NM_001349898 NM_001349899 NM_001349900 NM_001349901 NM_001349902 NM_001349903 NM_001349904 NM_001349905


NM_138646

RefSeq (protein)


NP_071364 NP_690054 NP_071364.4


NP_619587.3 NP_619587

Location (UCSC)

Chr 22: 26.44 – 26.48 Mb

Chr 5: 112.34 – 112.38 Mb

PubMed search

ENSG00000100099

ENSMUSG00000042328

NM_001349896
NM_001349898
NM_001349899
NM_001349900
NM_001349901
NM_001349902
NM_001349903
NM_001349904
NM_001349905

NP_071364
NP_690054
NP_071364.4

NP_619587.3
NP_619587

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Wikipedia

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