lysine-specific demethylase 5C; histone demethylase JARID1C; Jumonji/ARID domain-containing protein 1C; protein SmcX; protein Xe169 (KDM5C, DXS1272E, JARID1C, SMCX, XE169)

Function

• histone demethylase
• specifically demethylates Lys-4 of histone H3, thus playing a central role in histone cod
• does not demethylate histone H3 Lys-9, H3 Lys-27, H3 Lys-36, H3 Lys-79 or H4 Lys-20
• demethylates trimethylated & dimethylated but not monomethylated H3 Lys-4
• participates in transcriptional repression of neuronal genes by recruiting histone deacetylases & REST at neuron- restrictive silencer elements
• part of two distinct complexes, one containing E2F6, & the other containing REST

Cofactor: alpha-ketoglutarate, Fe+2

Structure

• the 1st PHD-type Zn+2 finger domain recognizes & binds H3-K9Me3
• both the JmjC domain & the JmjN domain are required for enzymatic activity
• belongs to the JARID1 histone demethylase family
• contains 1 ARID domain
• contains 1 JmjC domain
• contains 1 JmjN domain
• contains 2 PHD-type Zn+2 fingers

Compartment

nucleus

Alternative splicing

named isoforms=3

Expression

• expressed in all tissues examined
• highest levels found in brain & skeletal muscle

Pathology

• defects in KDM5C are the cause of mental retardation syndromic X-linked JARID1C-related

Notes

escapes X-inactivation

More general terms

• JmjC domain-containing protein (JMJD)
• histone demethylase
• zinc finger protein
• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/P41229.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8242
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8242
• OMIM: https://mirror.omim.org/entry/300534
• OMIM: https://mirror.omim.org/entry/314690