• Gene id: 84343

Gene Summary

• Gene Symbol: HPS3   Gene   UCSC   Ensembl
• Aliases: BLOC2S1, SUTAL
• Gene name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
• Alternate names: Hermansky-Pudlak syndrome 3 protein,
• Gene location: 3q24 (37551373: 37614178)     Exons: 6     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associat
• OMIM: 606118

Protein Summary

• Protein general information: Q969F9  
  • Name: Hermansky Pudlak syndrome 3 protein
  • Length: 1004  
  • Mass: 113736
  • Tissue specificity: Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.
• Sequence:

  MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGDY
  LVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLV
  GCTNKLVLFSLKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHP
  HKTNNRIRRTEEGISNEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPD
  ISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQ
  AVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTK
  AEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEA
  HLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQ
  KYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSIL
  VTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQK
  NNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSE
  DLINACSHYGLIYPWVHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTR
  LKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSSLKETLSIVAVELELK
  DFMNVLPEDGTATFFLPYLLYCSRKKPLT

• Structural information:
  • Interpro: IPR017216  IPR029438  IPR028167  IPR029437  
  • STRING: ENSP00000296051
• Other Databases: GeneCards:  HPS3  Malacards:  HPS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031084	BLOC-2 complex	IBA	cellular component
GO:0006996	organelle organization	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
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:0043473	pigmentation	IEA	biological process
GO:0006996	organelle organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome 3	PMID:11590544
Hermansky-Pudlak syndrome	PMID:11455388
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881