KDM5B
entrez
10765
canonical
uniprot
Q9UGL1
canonical
ensembl
ENSG00000117139
resolver
ensp
ENSP00000235790
resolver
ensp
ENSP00000356233
resolver
ensp
ENSP00000356234
resolver
ensp
ENSP00000497113
resolver
ensp
ENSP00000497671
resolver
enst
ENST00000648056
resolver
enst
ENST00000650569
resolver
genesymbol
KDM5B
resolver
genesymbol_syn
JARID1B
resolver
genesymbol_syn
PLU1
resolver
genesymbol_syn
RBBP2H1
resolver
hgnc
HGNC:18039
resolver
uniprot
A0A3B3IS40
resolver
uniprot
A0A3B3ITA8
resolver
uniprot
O95811
resolver
uniprot
Q15752
resolver
uniprot
Q9Y3Q5
resolver
uniprot_entry
A0A3B3IS40_HUMAN
resolver
uniprot_entry
A0A3B3ITA8_HUMAN
resolver
uniprot_entry
KDM5B_HUMAN
resolver
uniprot_sec
O95811
resolver
uniprot_sec
Q15752
resolver
uniprot_sec
Q9Y3Q5
resolver
activity_regulation
ACTIVITY REGULATION: Several specific inhibitors are being developed and tested (PubMed:26741168, PubMed:27214403). The inhibitor KDOAM-25 inhibits its demethylase activity, resulting to cell cycle arrest in myeloma cells (PubMed:28262558). {ECO:0000269|PubMed:26741168, ECO:0000269|PubMed:27214403, ECO:0000269|PubMed:28262558}.
uniprot
proteins
amino_acid_sequence
MEAATTLHPGPRPALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTGICKVRPPPDWQPPFACDVDKLHFTPRIQRLNELEAQTRVKLNFLDQIAKYWELQGSTLKIPHVERKILDLFQLNKLVAEEGGFAVVCKDRKWTKIATKMGFAPGKAVGSHIRGHYERILNPYNLFLSGDSLRCLQKPNLTTDTKDKEYKPHDIPQRQSVQPSETCPPARRAKRMRAEAMNIKIEPEETTEARTHNLRRRMGCPTPKCENEKEMKSSIKQEPIERKDYIVENEKEKPKSRSKKATNAVDLYVCLLCGSGNDEDRLLLCDGCDDSYHTFCLIPPLHDVPKGDWRCPKCLAQECSKPQEAFGFEQAARDYTLRTFGEMADAFKSDYFNMPVHMVPTELVEKEFWRLVSTIEEDVTVEYGADIASKEFGSGFPVRDGKIKLSPEEEEYLDSGWNLNNMPVMEQSVLAHITADICGMKLPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPGYAAEQLENVMKKLAPELFVSQPDLLHQLVTIMNPNTLMTHEVPVYRTNQCAGEFVITFPRAYHSGFNQGFNFAEAVNFCTVDWLPLGRQCVEHYRLLHRYCVFSHDEMICKMASKADVLDVVVASTVQKDMAIMIEDEKALRETVRKLGVIDSERMDFELLPDDERQCVKCKTTCFMSAISCSCKPGLLVCLHHVKELCSCPPYKYKLRYRYTLDDLYPMMNALKLRAESYNEWALNVNEALEAKINKKKSLVSFKALIEESEMKKFPDNDLLRHLRLVTQDAEKCASVAQQLLNGKRQTRYRSGGGKSQNQLTVNELRQFVTQLYALPCVLSQTPLLKDLLNRVEDFQQHSQKLLSEETPSAAELQDLLDVSFEFDVELPQLAEMRIRLEQARWLEEVQQACLDPSSLTLDDMRRLIDLGVGLAPYSAVEKAMARLQELLTVSEHWDDKAKSLLKARPRHSLNSLATAVKEIEEIPAYLPNGAALKDSVQRARDWLQDVEGLQAGGRVPVLDTLIELVTRGRSIPVHLNSLPRLETLVAEVQAWKECAVNTFLTENSPYSLLEVLCPRCDIGLLGLKRKQRKLKEPLPNGKKKSTKLESLSDLERALTESKETASAMATLGEARLREMEALQSLRLANEGKLLSPLQDVDIKICLCQKAPAAPMIQCELCRDAFHTSCVAVPSISQGLRIWLCPHCRRSEKPPLEKILPLLASLQRIRVRLPEGDALRYMIERTVNWQHRAQQLLSSGNLKFVQDRVGSGLLYSRWQASAGQVSDTNKVSQPPGTTSFSLPDDWDNRTSYLHSPFSTGRSCIPLHGVSPEVNELLMEAQLLQVSLPEIQELYQTLLAKPSPAQQTDRSSPVRPSSEKNDCCRGKRDGINSLERKLKRRLEREGLSSERWERVKKMRTPKKKKIKLSHPKDMNNFKLERERSYELVRSAETHSLPSDTSYSEQEDSEDEDAICPAVSCLQPEGDEVDWVQCDGSCNQWFHQVCVGVSPEMAEKEDYICVRCTVKDAPSRK
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 65 (MRT65) [MIM:618109]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT65 patients have moderate to severe intellectual disability, developmental delay, and facial dysmorphism. Camptodactyly is present in some patients. {ECO:0000269|PubMed:29276005, ECO:0000269|PubMed:30409806}. 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 demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). {ECO:0000250|UniProtKB:Q80Y84, ECO:0000269|PubMed:12657635, ECO:0000269|PubMed:16645588, ECO:0000269|PubMed:17320161, ECO:0000269|PubMed:17363312, ECO:0000269|PubMed:24952722, ECO:0000269|PubMed:26645689, ECO:0000269|PubMed:26741168, ECO:0000269|PubMed:27214403, ECO:0000269|PubMed:28262558}.
uniprot
proteins
mass_dalton
175658
uniprot
proteins
mutagenesis
MUTAGEN 308; /note="D->A: Slightly decreases interaction with histone H3. Decreases by 21% demethylase activity and repression of tumor suppressor genes expression."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 309; /note="L->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 310; /note="Y->A: Slightly decreases interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 310; /note="Y->F: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 311; /note="V->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 321; /note="E->A: Decreases interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 322; /note="D->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 324; /note="L->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 325; /note="L->A: Abolishes interaction with histone H3. Decreases by 44% demethylase activity and repression of tumor suppressor genes expression; when associated with A-328."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 326; /note="L->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 328; /note="D->A: Almost abolishes interaction with histone H3. Decreases by 44% demethylase activity and repression of tumor suppressor genes expression; when associated with A-325."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 332; /note="D->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 333; /note="S->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 334; /note="Y->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 335; /note="H->A: Slightly impairs transcription repression ability."; /evidence="ECO:0000269|PubMed:17373667"; MUTAGEN 345; /note="D->A: No effect on interaction with histone H3."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 351; /note="W->A: Abolishes interaction with histone H3. Decreases by 28% demethylase activity and repression of tumor suppressor genes expression."; /evidence="ECO:0000269|PubMed:24952722"; MUTAGEN 499..501; /note="HIE->AIA: Abolishes lysine-specific histone demethylase activity."; /evidence="ECO:0000269|PubMed:28262558"; MUTAGEN 499; /note="H->Y: Abolishes lysine-specific histone demethylase activity."; /evidence="ECO:0000269|PubMed:17363312"; MUTAGEN 1200; /note="H->A: Impairs transcription repression ability and interaction with HDAC4."; /evidence="ECO:0000269|PubMed:17373667
uniprot
proteins
protein_family
JARID1 histone demethylase family
uniprot
proteins
pubmed
10336460
uniprot
proteins
pubmed
10616211
uniprot
proteins
pubmed
10878660
uniprot
proteins
pubmed
12237901
uniprot
proteins
pubmed
12657635
uniprot
proteins
pubmed
15803180
uniprot
proteins
pubmed
16645588
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17311883
uniprot
proteins
pubmed
17320161
uniprot
proteins
pubmed
17363312
uniprot
proteins
pubmed
17373667
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24952722
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
26645689
uniprot
proteins
pubmed
26741168
uniprot
proteins
pubmed
27214403
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28262558
uniprot
proteins
pubmed
29276005
uniprot
proteins
pubmed
30409806
uniprot
proteins
sequence_length
1544
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:10336460, ECO:0000269|PubMed:12237901}.
uniprot
proteins