• Gene id: 26959

Gene Summary

• Gene Symbol: HBP1   Gene   UCSC   Ensembl
• Gene name: HMG-box transcription factor 1
• Alternate names: HMG box-containing protein 1, high mobility group box transcription factor 1,
• Gene location: 7q22.3 (178480816: 178463663)     Exons: 4     NC_000002.12
• OMIM: 616714

Protein Summary

• Protein general information: O60381  
  • Name: HMG box containing protein 1 (HMG box transcription factor 1) (High mobility group box transcription factor 1)
  • Length: 514  
  • Mass: 57645
• Sequence:

  MVWEVKTNQMPNAVQKLLLVMDKRASGMNDSLELLQCNENLPSSPGYNSCDEHMELDDLPELQAVQSDPTQSGMY
  QLSSDVSHQEYPRSSWNQNTSDIPETTYRENEVDWLTELANIATSPQSPLMQCSFYNRSSPVHIIATSKSLHSYA
  RPPPVSSSSKSEPAFPHHHWKEETPVRHERANSESESGIFCMSSLSDDDDLGWCNSWPSTVWHCFLKGTRLCFHK
  GSNKEWQDVEDFARAEGCDNEEDLQMGIHKGYGSDGLKLLSHEESVSFGESVLKLTFDPGTVEDGLLTVECKLDH
  PFYVKNKGWSSFYPSLTVVQHGIPCCEVHIGDVCLPPGHPDAINFDDSGVFDTFKSYDFTPMDSSAVYVLSSMAR
  QRRASLSCGGPGGQDFARSGFSKNCGSPGSSQLSSNSLYAKAVKNHSSGTVSATSPNKCKRPMNAFMLFAKKYRV
  EYTQMYPGKDNRAISVILGDRWKKMKNEERRMYTLEAKALAEEQKRLNPDCWKRKRTNSGSQQH

• Structural information:
  • Protein Domains: (203..34-)
    (/note="AXH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00496"-)
  • Interpro: IPR003652  IPR036096  IPR039655  IPR009071  IPR036910  
  • Prosite: PS51148 PS50118
  • PDB: 2E6O 3QVE
  • PDBsum: 2E6O 3QVE
  • STRING: ENSP00000222574
• Other Databases: GeneCards:  HBP1  Malacards:  HBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0007050	cell cycle arrest	NAS	biological process

Diseases

Associated diseases	References
Osteoarthritis	PMID:22586168
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R