KDM5C Recombinant Protein

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 chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

Function: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Ref.7 Ref.8 Ref.9

Cofactor: Alpha-ketoglutarate. Ref.8Binds 1 Fe2+ ion per subunit. Ref.8

Subunit structure: Part of two distinct complexes, one containing E2F6, and the other containing REST. Ref.9

Subcellular location: Nucleus Ref.9.

Tissue specificity: Expressed in all tissues examined. Highest levels found in brain and skeletal muscle. Ref.15

Domain: The first PHD-type zinc finger domain recognizes and binds H3-K9Me3.Both the JmjC domain and the JmjN domain are required for enzymatic activity.

Involvement in disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSCJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9 Ref.15 Ref.16 Ref.17

Miscellaneous: Escapes X-inactivation.

Sequence similarities: Belongs to the JARID1 histone demethylase family.Contains 1 ARID domain.Contains 1 JmjC domain.Contains 1 JmjN domain.Contains 2 PHD-type zinc fingers.