• Gene id: 54799

Gene Summary

• Gene Symbol: MBTD1   Gene   UCSC   Ensembl
• Aliases: SA49P01
• Gene name: mbt domain containing 1
• Alternate names: MBT domain-containing protein 1,
• Gene location: 17q21.33 (51260510: 51177418)     Exons: 21     NC_000017.11
• OMIM: 618705

Protein Summary

• Protein general information: Q05BQ5  
  • Name: MBT domain containing protein 1
  • Length: 628  
  • Mass: 70547
• Sequence:

  MFDGYDSCSEDTSSSSSSEESEEEVAPLPSNLPIIKNNGQVYTYPDGKSGMATCEMCGMVGVRDAFYSKTKRFCS
  VSCSRSYSSNSKKASILARLQGKPPTKKAKVLQKQPLVAKLAAYAQYQATLQNQAKTKAAVSMEGFSWGNYINSN
  SFIAAPVTCFKHAPMGTCWGDISENVRVEVPNTDCSLPTKVFWIAGIVKLAGYNALLRYEGFENDSGLDFWCNIC
  GSDIHPVGWCAASGKPLVPPRTIQHKYTNWKAFLVKRLTGAKTLPPDFSQKVSESMQYPFKPCMRVEVVDKRHLC
  RTRVAVVESVIGGRLRLVYEESEDRTDDFWCHMHSPLIHHIGWSRSIGHRFKRSDITKKQDGHFDTPPHLFAKVK
  EVDQSGEWFKEGMKLEAIDPLNLSTICVATIRKVLADGFLMIGIDGSEAADGSDWFCYHATSPSIFPVGFCEINM
  IELTPPRGYTKLPFKWFDYLRETGSIAAPVKLFNKDVPNHGFRVGMKLEAVDLMEPRLICVATVTRIIHRLLRIH
  FDGWEEEYDQWVDCESPDLYPVGWCQLTGYQLQPPASQSSRENQSASSKQKKKAKSQQYKGHKKMTTLQLKEELL
  DGEDYNFLQGASDQESNGSANFYIKQEP

• Structural information:
  • Interpro: IPR004092  IPR012313  IPR038603  
  • Prosite: PS51079 PS51024
  • PDB: 3FEO 4C5I 6NFX
  • PDBsum: 3FEO 4C5I 6NFX
  • STRING: ENSP00000468304
• Other Databases: GeneCards:  MBTD1  Malacards:  MBTD1

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:0035064	methylated histone binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0035064	methylated histone binding	IMP	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
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)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881