• Gene id: 221656

Gene Summary

• Gene Symbol: KDM1B   Gene   UCSC   Ensembl
• Aliases: AOF1, C6orf193, LSD2
• Gene name: lysine demethylase 1B
• Alternate names: lysine-specific histone demethylase 1B, flavin-containing amine oxidase domain-containing protein 1, lysine (K)-specific demethylase 1B, lysine-specific histone demethylase 2,
• Gene location: 6p22.3 (18155387: 18223853)     Exons: 23     NC_000006.12
• Gene summary(Entrez): Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]

Protein Summary

• Protein general information: Q8NB78  
  • Name: Lysine specific histone demethylase 1B (EC 1. . . ) (Flavin containing amine oxidase domain containing protein 1) (Lysine specific histone demethylase 2)
  • Length: 822  
  • Mass: 92098
• Sequence:

  MATPRGRTKKKASFDHSPDSLPLRSSGRQAKKKATETTDEDEDGGSEKKYRKCEKAGCTATCPVCFASASERCAK
  NGYTSRWYHLSCGEHFCNECFDHYYRSHKDGYDKYTTWKKIWTSNGKTEPSPKAFMADQQLPYWVQCTKPECRKW
  RQLTKEIQLTPQIAKTYRCGMKPNTAIKPETSDHCSLPEDLRVLEVSNHWWYSMLILPPLLKDSVAAPLLSAYYP
  DCVGMSPSCTSTNRAAATGNASPGKLEHSKAALSVHVPGMNRYFQPFYQPNECGKALCVRPDVMELDELYEFPEY
  SRDPTMYLALRNLILALWYTNCKEALTPQKCIPHIIVRGLVRIRCVQEVERILYFMTRKGLINTGVLSVGADQYL
  LPKDYHNKSVIIIGAGPAGLAAARQLHNFGIKVTVLEAKDRIGGRVWDDKSFKGVTVGRGAQIVNGCINNPVALM
  CEQLGISMHKFGERCDLIQEGGRITDPTIDKRMDFHFNALLDVVSEWRKDKTQLQDVPLGEKIEEIYKAFIKESG
  IQFSELEGQVLQFHLSNLEYACGSNLHQVSARSWDHNEFFAQFAGDHTLLTPGYSVIIEKLAEGLDIQLKSPVQC
  IDYSGDEVQVTTTDGTGYSAQKVLVTVPLALLQKGAIQFNPPLSEKKMKAINSLGAGIIEKIALQFPYRFWDSKV
  QGADFFGHVPPSASKRGLFAVFYDMDPQKKHSVLMSVIAGEAVASVRTLDDKQVLQQCMATLRELFKEQEVPDPT
  KYFVTRWSTDPWIQMAYSFVKTGGSGEAYDIIAEDIQGTVFFAGEATNRHFPQTVTGAYLSGVREASKIAAF

• Structural information:
  • Protein Domains: (275..37-)
    (/note="SWIRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00247"-)
  • Interpro: IPR002937  IPR036188  IPR009057  IPR007526  IPR036388   IPR011124  
  • Prosite: PS50934 PS51050
  • PDB: 4FWE 4FWF 4FWJ 4GU0 4GU1 4GUR 4GUS 4GUT 4GUU 4HSU 6R1U 6R25
  • PDBsum: 4FWE 4FWF 4FWJ 4GU0 4GU1 4GUR 4GUS 4GUT 4GUU 4HSU 6R1U 6R25
  • STRING: ENSP00000297792
• Other Databases: GeneCards:  KDM1B  Malacards:  KDM1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0034648	histone demethylase activity (H3-dimethyl-K4 specific)	IBA	molecular function
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0034649	histone demethylase activity (H3-monomethyl-K4 specific)	IDA	molecular function
GO:0071949	FAD binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0071949	FAD binding	IDA	molecular function
GO:0000786	nucleosome	IDA	cellular component
GO:0034648	histone demethylase activity (H3-dimethyl-K4 specific)	IDA	molecular function
GO:0034720	histone H3-K4 demethylation	IDA	biological process
GO:0034649	histone demethylase activity (H3-monomethyl-K4 specific)	ISS	molecular function
GO:0044030	regulation of DNA methylation	ISS	biological process
GO:0034720	histone H3-K4 demethylation	ISS	biological process
GO:0034648	histone demethylase activity (H3-dimethyl-K4 specific)	ISS	molecular function
GO:0006349	regulation of gene expression by genetic imprinting	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0044030	regulation of DNA methylation	IEA	biological process
GO:0034720	histone H3-K4 demethylation	IEA	biological process
GO:0034648	histone demethylase activity (H3-dimethyl-K4 specific)	IEA	molecular function
GO:0006349	regulation of gene expression by genetic imprinting	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0043046	DNA methylation involved in gamete generation	IEA	biological process
GO:0034649	histone demethylase activity (H3-monomethyl-K4 specific)	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
retinoblastoma	PMID:16180235
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq