• Gene id: 3257

Gene Summary

• Gene Symbol: HPS1   Gene   UCSC   Ensembl
• Aliases: BLOC3S1, HPS
• Gene name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
• Alternate names: Hermansky-Pudlak syndrome 1 protein, Hermansky-Pudlak syndrome 1 protein isoform,
• Gene location: 10q24.2 (98446962: 98416192)     Exons: 22     NC_000010.11
• Gene summary(Entrez): This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related org
• OMIM: 613528

Protein Summary

• Protein general information: Q92902  
  • Name: Hermansky Pudlak syndrome 1 protein
  • Length: 700  
  • Mass: 79292
  • Tissue specificity: Ubiquitous.
• Sequence:

  MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTE
  NGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQ
  SLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHS
  ASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEY
  FTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLW
  QGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLE
  FKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKS
  RRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTL
  LFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVI
  PTDLLVQQAGQLARRLWEASRIPLL

• Structural information:
  • Interpro: IPR026053  
  • STRING: ENSP00000326649
• Other Databases: GeneCards:  HPS1  Malacards:  HPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007040	lysosome organization	TAS	biological process
GO:0005764	lysosome	TAS	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
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:0046983	protein dimerization activity	IPI	molecular function

Diseases

Associated diseases	References
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	KEGG:H00166
Oculocutaneous albinism	PMID:16185271
Hermansky-Pudlak syndrome 1	PMID:8896559
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq