KDM5C
entrez
8242
canonical
uniprot
P41229
canonical
ensembl
ENSG00000126012
resolver
ensp
ENSP00000364528
resolver
ensp
ENSP00000364550
resolver
ensp
ENSP00000385394
resolver
ensp
ENSP00000445176
resolver
ensp
ENSP00000508806
resolver
ensp
ENSP00000509818
resolver
ensp
ENSP00000510430
resolver
ensp
ENSP00000752685
resolver
enst
ENST00000685641
resolver
enst
ENST00000688699
resolver
genesymbol
KDM5C
resolver
genesymbol_syn
DXS1272E
resolver
genesymbol_syn
JARID1C
resolver
genesymbol_syn
SMCX
resolver
genesymbol_syn
XE169
resolver
hgnc
HGNC:11114
resolver
uniprot
A0A8I5KTT1
resolver
uniprot
A0A8I5KYW1
resolver
uniprot
B0QZ44
resolver
uniprot
B4E3I2
resolver
uniprot
F5H3T1
resolver
uniprot
Q5JUX3
resolver
uniprot
Q5JUX4
resolver
uniprot
Q5JUX5
resolver
uniprot
Q7Z5S5
resolver
uniprot_entry
A0A8I5KTT1_HUMAN
resolver
uniprot_entry
A0A8I5KYW1_HUMAN
resolver
uniprot_entry
KDM5C_HUMAN
resolver
uniprot_sec
B0QZ44
resolver
uniprot_sec
B4E3I2
resolver
uniprot_sec
F5H3T1
resolver
uniprot_sec
Q5JUX3
resolver
uniprot_sec
Q5JUX4
resolver
uniprot_sec
Q5JUX5
resolver
uniprot_sec
Q7Z5S5
resolver
activity_regulation
ACTIVITY REGULATION: The inhibitor KDOAM-25 and others inhibit its demethylase activity, resulting to cell cycle arrest in myeloma cells. {ECO:0000269|PubMed:28262558}.
uniprot
proteins
amino_acid_sequence
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIAKFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDPEPTEEDIEKNPELKKLQIYGAGPKMMGLGLMAKDKTLRKKDKEGPECPPTVVVKEELGGDVKVESTSPKTFLESKEELSHSPEPCTKMTMRLRRNHSNAQFIESYVCRMCSRGDEDDKLLLCDGCDDNYHIFCLLPPLPEIPKGVWRCPKCVMAECKRPPEAFGFEQATREYTLQSFGEMADSFKADYFNMPVHMVPTELVEKEFWRLVNSIEEDVTVEYGADIHSKEFGSGFPVSDSKRHLTPEEEEYATSGWNLNVMPVLEQSVLCHINADISGMKVPWLYVGMVFSAFCWHIEDHWSYSINYLHWGEPKTWYGVPSLAAEHLEEVMKKLTPELFDSQPDLLHQLVTLMNPNTLMSHGVPVVRTNQCAGEFVITFPRAYHSGFNQGYNFAEAVNFCTADWLPAGRQCIEHYRRLRRYCVFSHEELICKMAACPEKLDLNLAAAVHKEMFIMVQEERRLRKALLEKGITEAEREAFELLPDDERQCIKCKTTCFLSALACYDCPDGLVCLSHINDLCKCSSSRQYLRYRYTLDELPAMLHKLKVRAESFDTWANKVRVALEVEDGRKRSLEELRALESEARERRFPNSELLQQLKNCLSEAEACVSRALGLVSGQEAGPHRVAGLQMTLTELRAFLDQMNNLPCAMHQIGDVKGVLEQVEAYQAEAREALASLPSSPGLLQSLLERGRQLGVEVPEAQQLQRQVEQARWLDEVKRTLAPSARRGTLAVMRGLLVAGASVAPSPAVDKAQAELQELLTIAERWEEKAHLCLEARQKHPPATLEAIIREAENIPVHLPNIQALKEALAKARAWIADVDEIQNGDHYPCLDDLEGLVAVGRDLPVGLEELRQLELQVLTAHSWREKASKTFLKKNSCYTLLEVLCPCADAGSDSTKRSRWMEKELGLYKSDTELLGLSAQDLRDPGSVIVAFKEGEQKEKEGILQLRRTNSAKPSPLASSSTASSTTSICVCGQVLAGAGALQCDLCQDWFHGRCVSVPRLLSSPRPNPTSSPLLAWWEWDTKFLCPLCMRSRRPRLETILALLVALQRLPVRLPEGEALQCLTERAISWQGRARQALASEDVTALLGRLAELRQRLQAEPRPEEPPNYPAAPASDPLREGSGKDMPKVQGLLENGDSVTSPEKVAPEEGSGKRDLELLSSLLPQLTGPVLELPEATRAPLEELMMEGDLLEVTLDENHSIWQLLQAGQPPDLERIRTLLELEKAERHGSRARGRALERRRRRKVDRGGEGDDPAREELEPKRVRSSGPEAEEVQEEEELEEETGGEGPPAPIPTTGSPSTQENQNGLEPAEGTTSGPSAPFSTLTPRLHLPCPQQPPQQQL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, 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 intellectual disability associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism. {ECO:0000269|PubMed:15586325, ECO:0000269|PubMed:16538222, ECO:0000269|PubMed:16541399, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17468742, ECO:0000269|PubMed:23356856, ECO:0000269|PubMed:25666439}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.67
uniprot
proteins
function
FUNCTION: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). 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. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). {ECO:0000250|UniProtKB:P41230, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161, ECO:0000269|PubMed:17468742, ECO:0000269|PubMed:26645689, ECO:0000269|PubMed:28262558}.
uniprot
proteins
mass_dalton
175720
uniprot
proteins
mutagenesis
MUTAGEN 514..516; /note="HIE->AIA: Abolishes lysine-specific histone demethylase activity."; /evidence="ECO:0000269|PubMed:28262558"; MUTAGEN 514; /note="H->A: Abolishes lysine-specific histone demethylase activity."; /evidence="ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17468742
uniprot
proteins
protein_family
JARID1 histone demethylase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15586325
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16538222
uniprot
proteins
pubmed
16541399
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17320160
uniprot
proteins
pubmed
17320161
uniprot
proteins
pubmed
17468742
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19636912
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21076407
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23356856
uniprot
proteins
pubmed
25666439
uniprot
proteins
pubmed
26645689
uniprot
proteins
pubmed
27214403
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28262558
uniprot
proteins
pubmed
33323928
uniprot
proteins
pubmed
7951230
uniprot
proteins
pubmed
8162017
uniprot
proteins
sequence_length
1560
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:17468742}.
uniprot
proteins