• Gene id: 11234

Gene Summary

• Gene Symbol: HPS5   Gene   UCSC   Ensembl
• Aliases: AIBP63, BLOC2S2
• Gene name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
• Alternate names: Hermansky-Pudlak syndrome 5 protein, alpha integrin binding protein 63, ruby-eye protein 2 homolog,
• Gene location: 11p15.1 (18322497: 18278669)     Exons: 24     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of i
• OMIM: 608087

Protein Summary

• Protein general information: Q9UPZ3  
  • Name: Hermansky Pudlak syndrome 5 protein (Alpha integrin binding protein 63) (Ruby eye protein 2 homolog) (Ru2)
  • Length: 1129  
  • Mass: 127449
  • Tissue specificity: Widely expressed. Isoform 1
• Sequence:

  MAFVPVIPESYSHVLAEFESLDPLLSALRLDSSRLKCTSIAVSRKWLALGSSGGGLHLIQKEGWKHRLFLSHREG
  AISQVACCLHDDDYVAVATSQGLVVVWELNQERRGKPEQMYVSSEHKGRRVTALCWDTAILRVFVGDHAGKVSAI
  KLNTSKQAKAAAAFVMFPVQTITTVDSCVVQLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFP
  GRCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSE
  HCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERCVERLLRRGLWNLAAR
  TCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEELILKFEPLDSACSSRRSSISSHESFSILDSG
  IYRIISSRRGSQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFG
  IPLPFRSPSPLVSLQAVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEV
  TSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVSDTDNSSMKLNQDVLL
  VNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDLFQICSPCAIASGLRNDLAELTTLCLELNVL
  NSKIKSTSGHVDHTLQQYSPEILACQFLKKYFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEM
  EKGDLPTRLKLLDDEVPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKS
  RPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLILHLIKLPADFITKEK
  MTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKSTRPAPQESLN
  GSLSDGPSPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLW
  SQQA

• Structural information:
  • Interpro: IPR035431  IPR015943  IPR036322  
  • STRING: ENSP00000265967
• Other Databases: GeneCards:  HPS5  Malacards:  HPS5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0031084	BLOC-2 complex	IPI	cellular component
GO:0031084	BLOC-2 complex	IPI	cellular component
GO:0006996	organelle organization	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	PMID:15296495
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray