• Gene id: 22955

Gene Summary

• Gene Symbol: SCMH1   Gene   UCSC   Ensembl
• Aliases: Scml3
• Gene name: Scm polycomb group protein homolog 1
• Alternate names: polycomb protein SCMH1, sex comb on midleg homolog 1,
• Gene location: 1p34.2 (41242305: 41027198)     Exons: 22     NC_000001.11

Protein Summary

• Protein general information: Q96GD3  
  • Name: Polycomb protein SCMH1 (Sex comb on midleg homolog 1)
  • Length: 660  
  • Mass: 73354
  • Tissue specificity: Strongly expressed in heart, muscle and pancreas. Weakly expressed in brain, placenta, lung, liver and kidney. {ECO
• Sequence:

  MLVCYSVLACEILWDLPCSIMGSPLGHFTWDKYLKETCSVPAPVHCFKQSYTPPSNEFKISMKLEAQDPRNTTST
  CIATVVGLTGARLRLRLDGSDNKNDFWRLVDSAEIQPIGNCEKNGGMLQPPLGFRLNASSWPMFLLKTLNGAEMA
  PIRIFHKEPPSPSHNFFKMGMKLEAVDRKNPHFICPATIGEVRGSEVLVTFDGWRGAFDYWCRFDSRDIFPVGWC
  SLTGDNLQPPGTKVVIPKNPYPASDVNTEKPSIHSSTKTVLEHQPGQRGRKPGKKRGRTPKTLISHPISAPSKTA
  EPLKFPKKRGPKPGSKRKPRTLLNPPPASPTTSTPEPDTSTVPQDAATIPSSAMQAPTVCIYLNKNGSTGPHLDK
  KKVQQLPDHFGPARASVVLQQAVQACIDCAYHQKTVFSFLKQGHGGEVISAVFDREQHTLNLPAVNSITYVLRFL
  EKLCHNLRSDNLFGNQPFTQTHLSLTAIEYSHSHDRYLPGETFVLGNSLARSLEPHSDSMDSASNPTNLVSTSQR
  HRPLLSSCGLPPSTASAVRRLCSRGVLKGSNERRDMESFWKLNRSPGSDRYLESRDASRLSGRDPSSWTVEDVMQ
  FVREADPQLGPHADLFRKHEIDGKALLLLRSDMMMKYMGLKLGPALKLSYHIDRLKQGKF

• Structural information:
  • Protein Domains: (593..65-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR004092  IPR001660  IPR013761  IPR033763  IPR021987   IPR038348  
  • Prosite: PS51079 PS50105
  • PDB: 2P0K
  • PDBsum: 2P0K
  • STRING: ENSP00000318094
• Other Databases: GeneCards:  SCMH1  Malacards:  SCMH1

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:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	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:0006338	chromatin remodeling	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0010369	chromocenter	IEA	cellular component
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0016458	gene silencing	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq