• Gene id: 50809

Gene Summary

• Gene Symbol: HP1BP3   Gene   UCSC   Ensembl
• Aliases: HP1-BP74, HP1BP74
• Gene name: heterochromatin protein 1 binding protein 3
• Alternate names: heterochromatin protein 1-binding protein 3,
• Gene location: 1p36.12 (20787306: 20740265)     Exons: 3     NC_000001.11
• OMIM: 616072

Protein Summary

• Protein general information: Q5SSJ5  
  • Name: Heterochromatin protein 1 binding protein 3 (Protein HP1 BP74)
  • Length: 553  
  • Mass: 61207
• Sequence:

  MATDTSQGELVHPKALPLIVGAQLIHADKLGEKVEDSTMPIRRTVNSTRETPPKSKLAEGEEEKPEPDISSEESV
  STVEEQENETPPATSSEAEQPKGEPENEEKEENKSSEETKKDEKDQSKEKEKKVKKTIPSWATLSASQLARAQKQ
  TPMASSPRPKMDAILTEAIKACFQKSGASVVAIRKYIIHKYPSLELERRGYLLKQALKRELNRGVIKQVKGKGAS
  GSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSLIRKYVSQYYPKLRVDIRPQL
  LKNALQRAVERGQLEQITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLENHPGT
  NSNYQMHLLKKTLQKCEKNGWMEQISGKGFSGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEE
  PPPKRRLQKKTPAKSPGKAASVKQRGSKPAPKVSAAQRGKARPLPKKAPPKAKTPAKKTRPSSTVIKKPSGGSSK
  KPATSARKEVKLPGKGKSTMKKSFRVKK

• Structural information:
  • Protein Domains: (157..23-)
    (/note="H15-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00837-)
    (255..33-)
    (/note="H15-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00837-)
    (337..41-)
    (/note="H15-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00837"-)
  • Interpro: IPR005818  IPR033061  IPR036388  IPR036390  
  • Prosite: PS51504
  • CDD: cd00073
  • PDB: 2RQP
  • PDBsum: 2RQP
  • STRING: ENSP00000312625
• Other Databases: GeneCards:  HP1BP3  Malacards:  HP1BP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0031491	nucleosome binding	IDA	molecular function
GO:0097298	regulation of nucleus size	IMP	biological process
GO:0042127	regulation of cell population proliferation	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0070828	heterochromatin organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0006334	nucleosome assembly	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0070828	heterochromatin organization	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray