• Gene id: 8242

Gene Summary

• Gene Symbol: KDM5C   Gene   UCSC   Ensembl
• Aliases: DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169
• Gene name: lysine demethylase 5C
• Alternate names: lysine-specific demethylase 5C, JmjC domain-containing protein SMCX, Jumonji, AT rich interactive domain 1C (RBP2-like), Jumonji/ARID domain-containing protein 1C, Smcx homolog, X chromosome, Smcy homolog, X-linked, histone demethylase JARID1C, lysine (K),
• Gene location: Xp11.22 (53225421: 53159734)     Exons: 33     NC_000023.11
• Gene summary(Entrez): This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chr
• OMIM: 314690

Protein Summary

• Protein general information: P41229  
  • Name: Lysine specific demethylase 5C (EC 1.14.11. ) (Histone demethylase JARID1C) (Jumonji/ARID domain containing protein 1C) (Protein SmcX) (Protein Xe169)
  • Length: 1560  
  • Mass: 175,720
• Sequence:

  MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNEL
  EAQTRVKLNYLDQIAKFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIG
  SLLRSHYERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDPEPTEE
  DIEKNPELKKLQIYGAGPKMMGLGLMAKDKTLRKKDKEGPECPPTVVVKEELGGDVKVESTSPKTFLESKEELSH
  SPEPCTKMTMRLRRNHSNAQFIESYVCRMCSRGDEDDKLLLCDGCDDNYHIFCLLPPLPEIPKGVWRCPKCVMAE
  CKRPPEAFGFEQATREYTLQSFGEMADSFKADYFNMPVHMVPTELVEKEFWRLVNSIEEDVTVEYGADIHSKEFG
  SGFPVSDSKRHLTPEEEEYATSGWNLNVMPVLEQSVLCHINADISGMKVPWLYVGMVFSAFCWHIEDHWSYSINY
  LHWGEPKTWYGVPSLAAEHLEEVMKKLTPELFDSQPDLLHQLVTLMNPNTLMSHGVPVVRTNQCAGEFVITFPRA
  YHSGFNQGYNFAEAVNFCTADWLPAGRQCIEHYRRLRRYCVFSHEELICKMAACPEKLDLNLAAAVHKEMFIMVQ
  EERRLRKALLEKGITEAEREAFELLPDDERQCIKCKTTCFLSALACYDCPDGLVCLSHINDLCKCSSSRQYLRYR
  YTLDELPAMLHKLKVRAESFDTWANKVRVALEVEDGRKRSLEELRALESEARERRFPNSELLQQLKNCLSEAEAC
  VSRALGLVSGQEAGPHRVAGLQMTLTELRAFLDQMNNLPCAMHQIGDVKGVLEQVEAYQAEAREALASLPSSPGL
  LQSLLERGRQLGVEVPEAQQLQRQVEQARWLDEVKRTLAPSARRGTLAVMRGLLVAGASVAPSPAVDKAQAELQE
  LLTIAERWEEKAHLCLEARQKHPPATLEAIIREAENIPVHLPNIQALKEALAKARAWIADVDEIQNGDHYPCLDD
  LEGLVAVGRDLPVGLEELRQLELQVLTAHSWREKASKTFLKKNSCYTLLEVLCPCADAGSDSTKRSRWMEKELGL
  YKSDTELLGLSAQDLRDPGSVIVAFKEGEQKEKEGILQLRRTNSAKPSPLASSSTASSTTSICVCGQVLAGAGAL
  QCDLCQDWFHGRCVSVPRLLSSPRPNPTSSPLLAWWEWDTKFLCPLCMRSRRPRLETILALLVALQRLPVRLPEG
  EALQCLTERAISWQGRARQALASEDVTALLGRLAELRQRLQAEPRPEEPPNYPAAPASDPLREGSGKDMPKVQGL
  LENGDSVTSPEKVAPEEGSGKRDLELLSSLLPQLTGPVLELPEATRAPLEELMMEGDLLEVTLDENHSIWQLLQA
  GQPPDLERIRTLLELEKAERHGSRARGRALERRRRRKVDRGGEGDDPAREELEPKRVRSSGPEAEEVQEEEELEE
  ETGGEGPPAPIPTTGSPSTQENQNGLEPAEGTTSGPSAPFSTLTPRLHLPCPQQPPQQQL

• Structural information:
  • Protein Domains: JmjN. (14-55)
    ARID. (79-169)
    JmjC. (468-634)
  • Interpro: IPR001606  IPR036431  IPR003347  IPR003349  IPR013637   IPR019786  IPR004198  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS51011 PS51184 PS51183 PS01359 PS50016
  • PDB: 2JRZ 5FWJ
  • PDBsum: 2JRZ 5FWJ
  • DIP: 39663
  • STRING: ENSP00000364550
• Other Databases: GeneCards:  KDM5C  Malacards:  KDM5C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	IEA	molecular function
GO:0032452	histone demethylase activity	TAS	molecular function
GO:0032452	histone demethylase activity	TAS	molecular function
GO:0032453	histone demethylase activity (H3-K4 specific)	IDA	molecular function
GO:0034720	histone H3-K4 demethylation	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	IEA	molecular function
GO:0032452	histone demethylase activity	TAS	molecular function
GO:0032452	histone demethylase activity	TAS	molecular function
GO:0032453	histone demethylase activity (H3-K4 specific)	IDA	molecular function
GO:0034720	histone H3-K4 demethylation	IEA	biological process
GO:0034720	histone H3-K4 demethylation	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0032452	histone demethylase activity	TAS	molecular function
GO:0032452	histone demethylase activity	TAS	molecular function
GO:0032453	histone demethylase activity (H3-K4 specific)	IDA	molecular function
GO:0034720	histone H3-K4 demethylation	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 26162009
Maturation arrest	MIK: 26162009
Male factor infertility	MIK: 26162009
Syndromic X-linked mental retardation	KEGG: H00577
Non- obstructive azoospermia	MIK: 26162009
Maturation arrest	MIK: 26162009

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26162009	Non- obstructive azoospermia, maturation arrest			80 (12 men with preserved spermatogenesis, 68 men with nonobstructive azoospermia (NOA) (40 Sertoli-cell-only syndrome (SCOS) and 28 premiotic maturation arrest (MA)))	Male infertility	USP9Y DDX3Y XKRY HSFY1 CYORF15A CYORF15B KDM5D EIF1AY RPS4Y2 RBMY1A1 PRY BPY2 DAZ1 and CDY1