HPS4

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.^[5][6][7]

AliasesHPS4, LE, BLOC3S2, biogenesis of lysosomal organelles complex 3 subunit 2, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

External IDsOMIM: 606682; MGI: 2177742; HomoloGene: 11123; GeneCards: HPS4; OMA:HPS4 - orthologs

Chr.Chromosome 22 (human)^[1]

End26,483,837 bp^[1]

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HPS4
Identifiers
Aliases	HPS4, LE, BLOC3S2, biogenesis of lysosomal organelles complex 3 subunit 2, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
External IDs	OMIM: 606682; MGI: 2177742; HomoloGene: 11123; GeneCards: HPS4; OMA:HPS4 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q12.1 Start 26,443,423 bp[1] End 26,483,837 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 F|5 54.69 cM Start 112,490,949 bp[2] End 112,526,280 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum skin of leg sural nerve testicle skin of abdomen right testis left testis right uterine tube anterior pituitary Top expressed in internal carotid artery external carotid artery motor neuron spermatocyte Rostral migratory stream spermatid crypt of lieberkuhn of small intestine vestibular sensory epithelium retinal pigment epithelium vestibular membrane of cochlear duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein homodimerization activity protein dimerization activity guanyl-nucleotide exchange factor activity 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 regulation of molecular function Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 89781 192232 Ensembl ENSG00000100099 ENSMUSG00000042328 UniProt 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 NM_001359853 RefSeq (protein) NP_071364 NP_690054 NP_001336825 NP_001336827 NP_001336828 NP_001336829 NP_001336830 NP_001336831 NP_001336832 NP_001336833 NP_001336834 NP_071364.4 NP_619587 NP_001346782 Location (UCSC) Chr 22: 26.44 – 26.48 Mb Chr 5: 112.49 – 112.53 Mb PubMed search [3] [4]
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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. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist.^[7]

In melanocytic cells HPS4 gene expression may be regulated by MITF.^[8]