PHF21A
entrez
51317
canonical
uniprot
Q96BD5
canonical
ensembl
ENSG00000135365
resolver
ensp
ENSP00000323152
resolver
ensp
ENSP00000398824
resolver
ensp
ENSP00000431964
resolver
ensp
ENSP00000502222
resolver
ensp
ENSP00000508589
resolver
ensp
ENSP00000533320
resolver
ensp
ENSP00000533321
resolver
ensp
ENSP00000533322
resolver
ensp
ENSP00000533325
resolver
ensp
ENSP00000533327
resolver
ensp
ENSP00000533328
resolver
ensp
ENSP00000533329
resolver
ensp
ENSP00000533331
resolver
ensp
ENSP00000533333
resolver
ensp
ENSP00000533335
resolver
ensp
ENSP00000533337
resolver
ensp
ENSP00000533339
resolver
ensp
ENSP00000533340
resolver
ensp
ENSP00000533341
resolver
ensp
ENSP00000609619
resolver
ensp
ENSP00000609620
resolver
ensp
ENSP00000630681
resolver
ensp
ENSP00000646978
resolver
ensp
ENSP00000754309
resolver
genesymbol
PHF21A
resolver
genesymbol_syn
BHC80
resolver
genesymbol_syn
KIAA1696
resolver
hgnc
HGNC:24156
resolver
uniprot
D3DQP5
resolver
uniprot
Q6AWA2
resolver
uniprot
Q9C0G7
resolver
uniprot
Q9H8V9
resolver
uniprot
Q9HAK6
resolver
uniprot
Q9NZE9
resolver
uniprot_entry
PF21A_HUMAN
resolver
uniprot_sec
D3DQP5
resolver
uniprot_sec
Q6AWA2
resolver
uniprot_sec
Q9C0G7
resolver
uniprot_sec
Q9H8V9
resolver
uniprot_sec
Q9HAK6
resolver
uniprot_sec
Q9NZE9
resolver
amino_acid_sequence
MELQTLQEALKVEIQVHQKLVAQMKQDPQNADLKKQLHELQAKITALSEKQKRVVEQLRKNLIVKQEQPDKFQIQPLPQSENKLQTAQQQPLQQLQQQQQYHHHHAQQSAAASPNLTASQKTVTTASMITTKTLPLVLKAATATMPASVVGQRPTIAMVTAINSQKAVLSTDVQNTPVNLQTSSKVTGPGAEAVQIVAKNTVTLVQATPPQPIKVPQFIPPPRLTPRPNFLPQVRPKPVAQNNIPIAPAPPPMLAAPQLIQRPVMLTKFTPTTLPTSQNSIHPVRVVNGQTATIAKTFPMAQLTSIVIATPGTRLAGPQTVQLSKPSLEKQTVKSHTETDEKQTESRTITPPAAPKPKREENPQKLAFMVSLGLVTHDHLEEIQSKRQERKRRTTANPVYSGAVFEPERKKSAVTYLNSTMHPGTRKRGRPPKYNAVLGFGALTPTSPQSSHPDSPENEKTETTFTFPAPVQPVSLPSPTSTDGDIHEDFCSVCRKSGQLLMCDTCSRVYHLDCLDPPLKTIPKGMWICPRCQDQMLKKEEAIPWPGTLAIVHSYIAYKAAKEEEKQKLLKWSSDLKQEREQLEQKVKQLSNSISKCMEMKNTILARQKEMHSSLEKVKQLIRLIHGIDLSKPVDSEATVGAISNGPDCTPPANAATSTPAPSPSSQSCTANCNQGEETK
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) [MIM:618725]: An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit-hyperactivity disorder. {ECO:0000269|PubMed:30487643, ECO:0000269|PubMed:31649809}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation. {ECO:0000269|PubMed:16140033}.
uniprot
proteins
mass_dalton
74854
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
12032298
uniprot
proteins
pubmed
12493763
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15325272
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16140033
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30487643
uniprot
proteins
pubmed
31649809
uniprot
proteins
sequence_length
680
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
uniprot
proteins