• Gene id: 51460

Gene Summary

• Gene Symbol: SFMBT1   Gene   UCSC   Ensembl
• Aliases: RU1, SFMBT, hSFMBT
• Gene name: Scm like with four mbt domains 1
• Alternate names: scm-like with four MBT domains protein 1, Scm-related gene containing four mbt domains, Scm-related gene product containing four mbt domains, renal ubiquitous protein 1,
• Gene location: 3p21.1 (53046654: 52899208)     Exons: 24     NC_000003.12
• Gene summary(Entrez): This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]
• OMIM: 607319

Protein Summary

• Protein general information: Q9UHJ3  
  • Name: Scm like with four MBT domains protein 1 (hSFMBT) (Renal ubiquitous protein 1)
  • Length: 866  
  • Mass: 98141
  • Tissue specificity: Expressed in all cell lines and normal tissues tested, including the thymus. {ECO
• Sequence:

  MNGEQQLDADAGSGMEEVELSWEDYLEETGSTAVPYGSFKHVDTRLQNGFAPGMKLEVAVRTDPETYWVATVITT
  CEQLLLLRYDGYGEDRRADFWCDIRKADLYPIGWCEQNKKTLEAPEGIRDKVSDWDEFLRQTLIGACSPPVPLLE
  GLRNGRNPLDLIAPGSRLECQAFQDSLSTWIVTVVENIGGRLKLRYEGLESSDNYEHWLYYLDPFLHHVGWAAQQ
  GYELQPPSAIRHLKNEAEWQEILAKVKEEEEEPLPSYLFKDKQVIGIHTFSVNMKLEAVDPWSPFGISPATVVKV
  FDEKYFLVEMDDLRPENHARRSFVCHADSPGIFPVQWSLKNGLHISPPPGYPSQDFDWADYLKQCGAEAAPQRCF
  PPLISEHEFKENMKLEAVNPILPEEVCVATITAVRGSYLWLQLEGSKKPIPECIVSVESMDIFPLGWCETNGHPL
  STPRRARVYKQRKIAVVQPEKQVPSSRTVHEGLRNQELNSTESVMINGKYCCPKIYFNHRCFSGPYLNKGRIAEL
  PQCVGPGNCVLVLREVLTLLINAAYKPSRVLRELQLDKDSVWHGCGEVLKAKYKGKSYRATVEIVKTADRVTEFC
  RQTCIKLECCPNLFGPRMVLDKCSENCSVLTKTKYTHYYGKKKNKRIGRPPGGHSNLACALKKASKRRKRRKNVF
  VHKKKRSSASVDNTPAGSPQGSGGEDEDDPDEGDDDSLSEGSTSEQQDELQEESEMSEKKSCSSSPTQSEISTSL
  PPDRQRRKRELRTFSFSDDENKPPSPKEIRIEVAERLHLDSNPLKWSVADVVRFIRSTDCAPLARIFLDQEIDGQ
  ALLLLTLPTVQECMDLKLGPAIKLCHHIERIKFAFYEQFAN

• Structural information:
  • Protein Domains: (796..86-)
    (/note="SAM"-)
  • Interpro: IPR004092  IPR001660  IPR013761  IPR037604  IPR021987   IPR038348  
  • Prosite: PS51079
  • CDD: cd09581
  • STRING: ENSP00000378235
• Other Databases: GeneCards:  SFMBT1  Malacards:  SFMBT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0048635	negative regulation of muscle organ development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0042393	histone binding	IEA	molecular function
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R