InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KDM5C

Summary

InnateDB Protein

IDBP-588096.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KDM5C

Protein Name

lysine (K)-specific demethylase 5C

Synonyms

DXS1272E; JARID1C; MRX13; MRXJ; MRXSCJ; MRXSJ; SMCX; XE169;

Species

Homo sapiens

Ensembl Protein

ENSP00000445176

InnateDB Gene

IDBG-69550 (KDM5C)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:17320160, ECO:0000269PubMed:17320161, ECO:0000269PubMed:17468742}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00355, ECO:0000255PROSITE-ProRule:PRU00537, ECO:0000269PubMed:17468742}.

Disease Associations

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 adaptive 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. {ECO:0000269PubMed:15586325, ECO:0000269PubMed:16538222, ECO:0000269PubMed:16541399}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all tissues examined. Highest levels found in brain and skeletal muscle. {ECO:0000269PubMed:15586325}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	31 [view]
Protein-Protein	28 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0032453	histone demethylase activity (H3-K4 specific)

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0034720	histone H3-K4 demethylation
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus

Protein Structure and Domains

PDB ID

InterPro

IPR001606 ARID/BRIGHT DNA-binding domain
IPR001965 Zinc finger, PHD-type
IPR003347 JmjC domain
IPR003349 Transcription factor jumonji, JmjN
IPR004198 Zinc finger, C5HC2-type
IPR011011 Zinc finger, FYVE/PHD-type
IPR013637 Lysine-specific demethylase-like domain
IPR019787 Zinc finger, PHD-finger

PFAM