KDM5A
entrez
5927
canonical
uniprot
P29375
canonical
ensembl
ENSG00000073614
resolver
ensp
ENSP00000382688
resolver
genesymbol
KDM5A
resolver
genesymbol_syn
JARID1A
resolver
genesymbol_syn
RBBP2
resolver
genesymbol_syn
RBP2
resolver
hgnc
HGNC:9886
resolver
uniprot
A8MV76
resolver
uniprot
Q4LE72
resolver
uniprot
Q86XZ1
resolver
uniprot_entry
KDM5A_HUMAN
resolver
uniprot_sec
A8MV76
resolver
uniprot_sec
Q4LE72
resolver
uniprot_sec
Q86XZ1
resolver
activity_regulation
ACTIVITY REGULATION: The inhibitors KDOAM-25, CPI-455 and others inhibits its demethylase activity, resulting to cell growth arrest in cancer cells. {ECO:0000269|PubMed:27214401, ECO:0000269|PubMed:27427228}.
uniprot
proteins
amino_acid_sequence
MAGVGPGGYAAEFVPPPECPVFEPSWEEFTDPLSFIGRIRPLAEKTGICKIRPPKDWQPPFACEVKSFRFTPRVQRLNELEAMTRVRLDFLDQLAKFWELQGSTLKIPVVERKILDLYALSKIVASKGGFEMVTKEKKWSKVGSRLGYLPGKGTGSLLKSHYERILYPYELFQSGVSLMGVQMPNLDLKEKVEPEVLSTDTQTSPEPGTRMNILPKRTRRVKTQSESGDVSRNTELKKLQIFGAGPKVVGLAMGTKDKEDEVTRRRKVTNRSDAFNMQMRQRKGTLSVNFVDLYVCMFCGRGNNEDKLLLCDGCDDSYHTFCLIPPLPDVPKGDWRCPKCVAEECSKPREAFGFEQAVREYTLQSFGEMADNFKSDYFNMPVHMVPTELVEKEFWRLVSSIEEDVIVEYGADISSKDFGSGFPVKDGRRKILPEEEEYALSGWNLNNMPVLEQSVLAHINVDISGMKVPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPSHAAEQLEEVMRELAPELFESQPDLLHQLVTIMNPNVLMEHGVPVYRTNQCAGEFVVTFPRAYHSGFNQGYNFAEAVNFCTADWLPIGRQCVNHYRRLRRHCVFSHEELIFKMAADPECLDVGLAAMVCKELTLMTEEETRLRESVVQMGVLMSEEEVFELVPDDERQCSACRTTCFLSALTCSCNPERLVCLYHPTDLCPCPMQKKCLRYRYPLEDLPSLLYGVKVRAQSYDTWVSRVTEALSANFNHKKDLIELRVMLEDAEDRKYPENDLFRKLRDAVKEAETCASVAQLLLSKKQKHRQSPDSGRTRTKLTVEELKAFVQQLFSLPCVISQARQVKNLLDDVEEFHERAQEAMMDETPDSSKLQMLIDMGSSLYVELPELPRLKQELQQARWLDEVRLTLSDPQQVTLDVMKKLIDSGVGLAPHHAVEKAMAELQELLTVSERWEEKAKVCLQARPRHSVASLESIVNEAKNIPAFLPNVLSLKEALQKAREWTAKVEAIQSGSNYAYLEQLESLSAKGRPIPVRLEALPQVESQVAAARAWRERTGRTFLKKNSSHTLLQVLSPRTDIGVYGSGKNRRKKVKELIEKEKEKDLDLEPLSDLEEGLEETRDTAMVVAVFKEREQKEIEAMHSLRAANLAKMTMVDRIEEVKFCICRKTASGFMLQCELCKDWFHNSCVPLPKSSSQKKGSSWQAKEVKFLCPLCMRSRRPRLETILSLLVSLQKLPVRLPEGEALQCLTERAMSWQDRARQALATDELSSALAKLSVLSQRMVEQAAREKTEKIISAELQKAAANPDLQGHLPSFQQSAFNRVVSSVSSSPRQTMDYDDEETDSDEDIRETYGYDMKDTASVKSSSSLEPNLFCDEEIPIKSEEVVTHMWTAPSFCAEHAYSSASKSCSQGSSTPRKQPRKSPLVPRSLEPPVLELSPGAKAQLEELMMVGDLLEVSLDETQHIWRILQATHPPSEDRFLHIMEDDSMEEKPLKVKGKDSSEKKRKRKLEKVEQLFGEGKQKSKELKKMDKPRKKKLKLGADKSKELNKLAKKLAKEEERKKKKEKAAAAKVELVKESTEKKREKKVLDIPSKYDWSGAEESDDENAVCAAQNCQRPCKDKVDWVQCDGGCDEWFHQVCVGVSPEMAENEDYICINCAKKQGPVSPGPAPPPSFIMSYKLPMEDLKETS
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving KDM5A has been found in M5 type acute myeloid leukemia. Translocation t(11;12)(p15;p13) with NUP98. {ECO:0000269|PubMed:23531517}.; DISEASE: Note=Chromosomal aberrations involving KDM5A have been found in M7 type childhood acute myeloid leukemia. Translocation t(11;12)(p15;p13) with NUP98. {ECO:0000269|PubMed:16419055, ECO:0000269|PubMed:23531517}.; DISEASE: El Hayek-Chahrour neurodevelopmental syndrome (NEDEHC) [MIM:620820]: An autosomal recessive neurodevelopmental disorder characterized by lack of speech, intellectual disability, autism, and developmental delay. {ECO:0000269|PubMed:33350388}. Note=The disease may be 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. 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'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif (PubMed:18270511). May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation (PubMed:19430464). May participate in transcriptional repression of cytokines such as CXCL12. Plays a role in the regulation of the circadian rhythm and in maintaining the normal periodicity of the circadian clock. In a histone demethylase-independent manner, acts as a coactivator of the CLOCK-BMAL1-mediated transcriptional activation of PER1/2 and other clock-controlled genes and increases histone acetylation at PER1/2 promoters by inhibiting the activity of HDAC1 (By similarity). Seems to act as a transcriptional corepressor for some genes such as MT1F and to favor the proliferation of cancer cells (PubMed:27427228). {ECO:0000250|UniProtKB:Q3UXZ9, ECO:0000269|PubMed:11358960, ECO:0000269|PubMed:15949438, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161, ECO:0000269|PubMed:17320163, ECO:0000269|PubMed:18270511, ECO:0000269|PubMed:19430464, ECO:0000269|PubMed:27427228}.
uniprot
proteins
mass_dalton
192095
uniprot
proteins
mutagenesis
MUTAGEN 112; /note="R->E: Decreases DNA-binding."; /evidence="ECO:0000269|PubMed:18270511"; MUTAGEN 152; /note="K->E: Abolishes DNA-binding."; /evidence="ECO:0000269|PubMed:18270511"; MUTAGEN 156; /note="S->D: Decreases DNA-binding."; /evidence="ECO:0000269|PubMed:18270511"; MUTAGEN 157; /note="L->E: Decreases DNA-binding."; /evidence="ECO:0000269|PubMed:18270511"; MUTAGEN 626; /note="C->S: No effect on lysine-specific histone demethylase activity; when associated with S-636."; /evidence="ECO:0000269|PubMed:27427228"; MUTAGEN 636; /note="C->S: No effect on lysine-specific histone demethylase activity; when associated with S-626."; /evidence="ECO:0000269|PubMed:27427228"; MUTAGEN 1609; /note="V->G: No effect on interaction with histone H3 di- and trimethylated at 'Lys-4'."; /evidence="ECO:0000269|PubMed:19430464"; MUTAGEN 1625; /note="W->A: Abolishes interaction with histone H3 di- and trimethylated at 'Lys-4'."; /evidence="ECO:0000269|PubMed:19430464"; MUTAGEN 1634..1635; /note="EW->AA: Abolishes interaction with histone H3 di- and trimethylated at 'Lys-4'."; /evidence="ECO:0000269|PubMed:19430464
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the SCF(FBXO39) complex; leading to proteasomal degradation. {ECO:0000250|UniProtKB:Q3UXZ9}.
uniprot
proteins
protein_family
JARID1 histone demethylase family
uniprot
proteins
pubmed
11358960
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15949438
uniprot
proteins
pubmed
16419055
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17311883
uniprot
proteins
pubmed
17320160
uniprot
proteins
pubmed
17320161
uniprot
proteins
pubmed
17320163
uniprot
proteins
pubmed
18270511
uniprot
proteins
pubmed
1857421
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19430464
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21960634
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23531517
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26645689
uniprot
proteins
pubmed
27214401
uniprot
proteins
pubmed
27427228
uniprot
proteins
pubmed
27499454
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
33350388
uniprot
proteins
pubmed
7935440
uniprot
proteins
pubmed
8414517
uniprot
proteins
pubmed
9129143
uniprot
proteins
sequence_length
1690
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:15949438, ECO:0000269|PubMed:7935440}. Nucleus {ECO:0000250|UniProtKB:Q3UXZ9}. Note=Occupies promoters of genes involved in RNA metabolism and mitochondrial function. {ECO:0000250|UniProtKB:Q3UXZ9}.
uniprot
proteins