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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
General
histone demethylase
JmjC domain-containing protein (JMJD)
phosphoprotein
zinc finger protein
Properties
SIZE: entity length = 1560 aa
MW = 176 kD
COMPARTMENT: cell nucleus
MOTIF: JmjN {14-55}
ARID {79-169}
Ser phosphorylation site {S317}
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 326-372
EFFECTOR-BOUND: Zn+2
JmjC {468-634}
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 1187-1248
EFFECTOR-BOUND: Zn+2
Ser phosphorylation site {S1359}
Database Correlations
OMIM correlations
UniProt P41229
PFAM correlations
Entrez Gene 8242
Kegg hsa:8242
References
- UniProt :accession P41229
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/JARID1C