Homo sapiens Protein: KDM5C | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-69552.6 | ||||||||||||||||||||||
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 | ENSP00000364550 | ||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF01388
PF02373 PF08007 PF02375 PF02928 PF08429 PF00628 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00501
SM00249 SM00558 SM00545 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P41229 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P41229 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 8242 | ||||||||||||||||||||||
UniGene | Hs.631768 | ||||||||||||||||||||||
RefSeq | NP_004178 | ||||||||||||||||||||||
HUGO | HGNC:11114 | ||||||||||||||||||||||
OMIM | 314690 | ||||||||||||||||||||||
CCDS | CCDS14351 | ||||||||||||||||||||||
HPRD | 02442 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AK304732 AL139396 BC054499 CH471154 L25270 Z29650 | ||||||||||||||||||||||
GenPept | AAA61302 AAH54499 BAG65494 CAA82758 CAI39836 CAI39837 CAI39838 EAW93145 | ||||||||||||||||||||||