• Gene id: 64342

Gene Summary

• Gene Symbol: HS1BP3   Gene   UCSC   Ensembl
• Aliases: ETM2, HS1-BP3
• Gene name: HCLS1 binding protein 3
• Alternate names: HCLS1-binding protein 3, HS1-binding protein 3, HSP1BP-3,
• Gene location: 2p24.1 (20651660: 20552933)     Exons: 11     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
• OMIM: 609359

Protein Summary

• Protein general information: Q53T59  
  • Name: HCLS1 binding protein 3 (HS1 binding protein 3) (HSP1BP 3)
  • Length: 392  
  • Mass: 42780
• Sequence:

  MQSPAVLVTSRRLQNAHTGLDLTVPQHQEVRGKMMSGHVEYQILVVTRLAAFKSAKHRPEDVVQFLVSKKYSEIE
  EFYQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDS
  SVLDGTDSQTGNDEEAFDFFEEQDQVAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKKHPKVAVKAKPS
  PRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDVSSVDPLKLFDDPDLGGAIPLGDSLLLPAACESGGPTPSLSHRD
  ASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPVAAKPVIPRKPAVPPKAGPAEAVAGQQKPQEQIQAMDEMDIL
  QYIQDHDTPAQAAPSLF

• Structural information:
  • Protein Domains: (19..14-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147"-)
  • Interpro: IPR039701  IPR037901  IPR001683  IPR036871  
  • Prosite: PS50195
  • CDD: cd06868
  • STRING: ENSP00000305193
• Other Databases: GeneCards:  HS1BP3  Malacards:  HS1BP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0042981	regulation of apoptotic process	IMP	biological process
GO:0035091	phosphatidylinositol binding	IEA	molecular function

Diseases

Associated diseases	References
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq