• Gene id: 79831

Gene Summary

• Gene Symbol: KDM8   Gene   UCSC   Ensembl
• Aliases: JMJD5
• Gene name: lysine demethylase 8
• Alternate names: bifunctional peptidase and arginyl-hydroxylase JMJD5, JmjC arginyl-hydroxylase, L-arginine (3R)-hydroxylase KDM8, arginyl C3-hydroxylase KDM8, jmjC domain-containing protein 5, jumonji C domain-containing protein 5, jumonji domain containing 5, jumonji domain-co,
• Gene location: 16p12.1 (27203485: 27222304)     Exons: 10     NC_000016.10
• Gene summary(Entrez): This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
• OMIM: 607350

Protein Summary

• Protein general information: Q8N371  
  • Name: Bifunctional peptidase and arginyl hydroxylase JMJD5 (EC 1.14.11. ) (EC 3.4. . ) (JmjC domain containing protein 5) (Jumonji C domain containing protein 5) (L arginine (3R) hydroxylase KDM8)
  • Length: 416  
  • Mass: 47270
  • Tissue specificity: Weakly expressed in most cells. Highly expressed in breast cancer cells (PubMed
• Sequence:

  MAGDTHCPAEPLAREGTLWEALRALLPHSKEDLKLDLGEKVERSVVTLLQRATELFYEGRRDECLQSSEVILDYS
  WEKLNTGTWQDVDKDWRRVYAIGCLLKALCLCQAPEDANTVAAALRVCDMGLLMGAAILGDILLKVAAILQTHLP
  GKRPARGSLPEQPCTKKARADHGLIPDVKLEKTVPRLHRPSLQHFREQFLVPGRPVILKGVADHWPCMQKWSLEY
  IQEIAGCRTVPVEVGSRYTDEEWSQTLMTVNEFISKYIVNEPRDVGYLAQHQLFDQIPELKQDISIPDYCSLGDG
  EEEEITINAWFGPQGTISPLHQDPQQNFLVQVMGRKYIRLYSPQESGALYPHDTHLLHNTSQVDVENPDLEKFPK
  FAKAPFLSCILSPGEILFIPVKYWHYVRALDLSFSVSFWWS

• Structural information:
  • Protein Domains: (271..41-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR041667  IPR003347  
  • Prosite: PS51184
  • PDB: 3UYJ 4AAP 4GAZ 4GJY 4GJZ 4QU1 5FBJ 6AVS 6AX3 6F4M 6F4N 6F4O 6F4P 6F4Q 6F4R 6F4S 6F4T 6I9L 6I9M 6I9N
  • PDBsum: 3UYJ 4AAP 4GAZ 4GJY 4GJZ 4QU1 5FBJ 6AVS 6AX3 6F4M 6F4N 6F4O 6F4P 6F4Q 6F4R 6F4S 6F4T 6I9L 6I9M 6I9N
  • STRING: ENSP00000398410
• Other Databases: GeneCards:  KDM8  Malacards:  KDM8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0051864	histone demethylase activity (H3-K36 specific)	IBA	molecular function
GO:0070544	histone H3-K36 demethylation	IBA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0004177	aminopeptidase activity	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0070544	histone H3-K36 demethylation	IDA	biological process
GO:0051864	histone demethylase activity (H3-K36 specific)	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0000086	G2/M transition of mitotic cell cycle	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0031648	protein destabilization	IMP	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0031648	protein destabilization	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Breast cancer	PMID:20457893
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