• Gene id: 89781

Gene Summary

• Gene Symbol: HPS4   Gene   UCSC   Ensembl
• Aliases: BLOC3S2, LE
• Gene name: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
• Alternate names: Hermansky-Pudlak syndrome 4 protein, light-ear protein homolog,
• Gene location: 22q12.1 (26483862: 26443108)     Exons: 19     NC_000022.11
• Gene summary(Entrez): 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 r
• OMIM: 606682

Protein Summary

• Protein general information: Q9NQG7  
  • Name: Hermansky Pudlak syndrome 4 protein (Light ear protein homolog)
  • Length: 708  
  • Mass: 76919
• Sequence:

  MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLV
  RLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNT
  SDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRL
  PTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGH
  VESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIP
  EAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHS
  SQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGI
  SSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSS
  TYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAP
  AARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL

• Structural information:
  • Interpro: IPR026091  
  • STRING: ENSP00000381213
• Other Databases: GeneCards:  HPS4  Malacards:  HPS4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:1903232	melanosome assembly	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0031085	BLOC-3 complex	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006605	protein targeting	IBA	biological process
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	contributes to
GO:1903232	melanosome assembly	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0031085	BLOC-3 complex	IPI	cellular component
GO:0031085	BLOC-3 complex	IPI	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0031085	BLOC-3 complex	IPI	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007596	blood coagulation	IEA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006996	organelle organization	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0042470	melanosome	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007040	lysosome organization	IDA	biological process
GO:0006605	protein targeting	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0042827	platelet dense granule	IDA	cellular component
GO:0048075	positive regulation of eye pigmentation	TAS	biological process
GO:0007599	hemostasis	TAS	biological process
GO:0046983	protein dimerization activity	IPI	molecular function
GO:0050821	protein stabilization	IPI	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function

Diseases

Associated diseases	References
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	PMID:12664304
Schizophrenia	PMID:23563589
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq