Literature summary for 1.14.11.67 extracted from

Grafodatskaya, D.; Chung, B.H.; Butcher, D.T.; Turinsky, A.L.; Goodman, S.J.; Choufani, S.; Chen, Y.A.; Lou, Y.; Zhao, C.; Rajendram, R.; Abidi, F.E.; Skinner, C.; Stavropoulos, J.; Bondy, C.A.; Hamilton, J.; Wodak, S.; Scherer, S.W.; Schwartz, C.E.; Weksberg, R.
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C (2013), BMC Med. Genomics, 6, 0000.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene Kdm5c, encoded on the X-chromosome, genotyping, quantitative real-time RT-PCR expression analysis	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
histone H3 N6,N6-dimethyl-L-lysine4 + 2-oxoglutarate + O2	Homo sapiens	-	histone H3 N6-methyl-L-lysine4 + succinate + formaldehyde + CO2	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	X-linked gene KDM5C	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
histone H3 N6,N6-dimethyl-L-lysine4 + 2-oxoglutarate + O2	-	Homo sapiens	histone H3 N6-methyl-L-lysine4 + succinate + formaldehyde + CO2	-	?

Subunits

Subunits	Comment	Organism
More	the enzyme consists of DNA binding domain, catalytic domain, and plant homeodomain	Homo sapiens

Synonyms

Synonyms	Comment	Organism
H3K4 demethylase	-	Homo sapiens
histone H3 lysine 4 demethylase	-	Homo sapiens
KDM5C	-	Homo sapiens

General Information

General Information	Comment	Organism
evolution	KDM5C is a member of the evolutionarily conserved KDM5 family of four proteins, KDM5A/B/C and D. KDM5A/C/D demethylate tri- and di-methylated forms of H3K4, whereas KDM5B is capable of demethylating all three forms (tri-, di-, and mono) of H3K4 methylation	Homo sapiens
malfunction	mutations in the X-linked KDM5C gene, encoding a histone H3 lysine 4 demethylase, lading to significant loss of DNA methylation in blood of males with intellectual disability, especially loss of DNA methylation at the promoters of the three top candidate genes FBXL5, SCMH1, CACYBP. Mutant clinical features most consistently reported in males with mutations include mild to severe intellectual disability, epilepsy, short stature, hyperreflexia, aggressive behavior and microcephaly, phenotypes, overview. Significant loss of DNA methylation at specific genomic loci in blood samples of male patients carrying KDM5C mutations, suggesting these genes are epigenetic targets of KDM5C	Homo sapiens
metabolism	interactions between DNA methylation and H3 lysine 4 methylation	Homo sapiens
physiological function	The KDM5C protein is likely to play a role not only in intellectual disability but also in sex-specific differences in brain function, parallel sex-specific DNA methylation profiles in brain samples from control males and females were observed at FBXL5 and CACYBP	Homo sapiens

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Release 2023.1 (January 2023)