• Gene id: 84280

Gene Summary

• Gene Symbol: BTBD10   Gene   UCSC   Ensembl
• Aliases: GMRP-1, GMRP1
• Gene name: BTB domain containing 10
• Alternate names: BTB/POZ domain-containing protein 10, BTB (POZ) domain containing 10, BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10, K+ channel tetramerization protein, epididymis secretory sperm binding protein, glucose ,
• Gene location: 11p15.3 (13463296: 13387995)     Exons: 12     NC_000011.10
• OMIM: 615933

Protein Summary

• Protein general information: Q9BSF8  
  • Name: BTB/POZ domain containing protein 10 (Glucose metabolism related protein 1)
  • Length: 475  
  • Mass: 53779
  • Tissue specificity: Ubiquitously expressed. Highly expressed in adult brain, testis, aorta and small intestine and weakly expressed in the heart, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary and colon. Down-regulated in glioma. {ECO
• Sequence:

  MAGRPHPYDGNSSDPENWDRKLHSRPRKLYKHSSTSSRIAKGGVDHTKMSLHGASGGHERSRDRRRSSDRSRDSS
  HERTESQLTPCIRNVTSPTRQHHVEREKDHSSSRPSSPRPQKASPNGSISSAGNSSRNSSQSSSDGSCKTAGEMV
  FVYENAKEGARNIRTSERVTLIVDNTRFVVDPSIFTAQPNTMLGRMFGSGREHNFTRPNEKGEYEVAEGIGSTVF
  RAILDYYKTGIIRCPDGISIPELREACDYLCISFEYSTIKCRDLSALMHELSNDGARRQFEFYLEEMILPLMVAS
  AQSGERECHIVVLTDDDVVDWDEEYPPQMGEEYSQIIYSTKLYRFFKYIENRDVAKSVLKERGLKKIRLGIEGYP
  TYKEKVKKRPGGRPEVIYNYVQRPFIRMSWEKEEGKSRHVDFQCVKSKSITNLAAAAADIPQDQLVVMHPTPQVD
  ELDILPIHPPSGNSDLDPDAQNPML

• Structural information:
  • Protein Domains: (167..24-)
    (/note="BTB"-)
  • Interpro: IPR000210  IPR039886  IPR039885  IPR011333  
  • STRING: ENSP00000431186
• Other Databases: GeneCards:  BTBD10  Malacards:  BTBD10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0042327	positive regulation of phosphorylation	IBA	biological process
GO:1901215	negative regulation of neuron death	ISS	biological process
GO:0042327	positive regulation of phosphorylation	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0044342	type B pancreatic cell proliferation	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0042327	positive regulation of phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0001650	fibrillar center	IDA	cellular component

Diseases

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