BRPF1
entrez
7862
canonical
uniprot
P55201
canonical
ensembl
ENSG00000156983
resolver
ensp
ENSP00000373340
resolver
ensp
ENSP00000398863
resolver
ensp
ENSP00000402485
resolver
ensp
ENSP00000506903
resolver
ensp
ENSP00000506921
resolver
ensp
ENSP00000507148
resolver
ensp
ENSP00000507469
resolver
ensp
ENSP00000508123
resolver
ensp
ENSP00000508198
resolver
ensp
ENSP00000508256
resolver
ensp
ENSP00000549847
resolver
ensp
ENSP00000641847
resolver
enst
ENST00000424362
resolver
enst
ENST00000682208
resolver
enst
ENST00000682980
resolver
enst
ENST00000683639
resolver
enst
ENST00000684206
resolver
enst
ENST00000971788
resolver
genesymbol
BRPF1
resolver
genesymbol_syn
BR140
resolver
hgnc
HGNC:14255
resolver
uniprot
A0A804HI52
resolver
uniprot
A0A804HIN1
resolver
uniprot
A0A804HKY8
resolver
uniprot
A0A804HL48
resolver
uniprot
A0A8C8KWW5
resolver
uniprot
B4DEZ6
resolver
uniprot
Q7Z6E0
resolver
uniprot
Q8TCM6
resolver
uniprot
Q9UHI0
resolver
uniprot_entry
A0A804HI52_HUMAN
resolver
uniprot_entry
A0A804HIN1_HUMAN
resolver
uniprot_entry
A0A804HKY8_HUMAN
resolver
uniprot_entry
A0A804HL48_HUMAN
resolver
uniprot_entry
A0A8C8KWW5_HUMAN
resolver
uniprot_entry
BRPF1_HUMAN
resolver
uniprot_sec
B4DEZ6
resolver
uniprot_sec
Q7Z6E0
resolver
uniprot_sec
Q8TCM6
resolver
uniprot_sec
Q9UHI0
resolver
amino_acid_sequence
MGVDFDVKTFCHNLRATKPPYECPVETCRKVYKSYSGIEYHLYHYDHDNPPPPQQTPLRKHKKKGRQSRPANKQSPSPSEVSQSPGREVMSYAQAQRMVEVDLHGRVHRISIFDNLDVVSEDEEAPEEAPENGSNKENTETPAATPKSGKHKNKEKRKDSNHHHHHNVSASTTPKLPEVVYRELEQDTPDAPPRPTSYYRYIEKSAEELDEEVEYDMDEEDYIWLDIMNERRKTEGVSPIPQEIFEYLMDRLEKESYFESHNKGDPNALVDEDAVCCICNDGECQNSNVILFCDMCNLAVHQECYGVPYIPEGQWLCRRCLQSPSRAVDCALCPNKGGAFKQTDDGRWAHVVCALWIPEVCFANTVFLEPIDSIEHIPPARWKLTCYICKQRGSGACIQCHKANCYTAFHVTCAQQAGLYMKMEPVRETGANGTSFSVRKTAYCDIHTPPGSARRLPALSHSEGEEDEDEEEDEGKGWSSEKVKKAKAKSRIKMKKARKILAEKRAAAPVVSVPCIPPHRLSKITNRLTIQRKSQFMQRLHSYWTLKRQSRNGVPLLRRLQTHLQSQRNCDQVGRDSEDKNWALKEQLKSWQRLRHDLERARLLVELIRKREKLKRETIKVQQIAMEMQLTPFLILLRKTLEQLQEKDTGNIFSEPVPLSEVPDYLDHIKKPMDFFTMKQNLEAYRYLNFDDFEEDFNLIVSNCLKYNAKDTIFYRAAVRLREQGGAVLRQARRQAEKMGIDFETGMHIPHSLAGDEATHHTEDAAEEERLVLLENQKHLPVEEQLKLLLERLDEVNASKQSVGRSRRAKMIKKEMTALRRKLAHQRETGRDGPERHGPSSRGSLTPHPAACDKDGQTDSAAEESSSQETSKGLGPNMSSTPAHEVGRRTSVLFSKKNPKTAGPPKRPGRPPKNRESQMTPSHGGSPVGPPQLPIMSSLRQRKRGRSPRPSSSSDSDSDKSTEDPPMDLPANGFSGGNQPVKKSFLVYRNDCSLPRSSSDSESSSSSSSSAASDRTSTTPSKQGRGKPSFSRGTFPEDSSEDTSGTENEAYSVGTGRGVGHSMVRKSLGRGAGWLSEDEDSPLDALDLVWAKCRGYPSYPALIIDPKMPREGMFHHGVPIPVPPLEVLKLGEQMTQEAREHLYLVLFFDNKRTWQWLPRTKLVPLGVNQDLDKEKMLEGRKSNIRKSVQIAYHRALQHRSKVQGEQSSETSDSD
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. {ECO:0000269|PubMed:27939639, ECO:0000269|PubMed:27939640}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:24065767, PubMed:27939640). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac) (PubMed:24065767). Some HAT complexes preferentially mediate histone H3 'Lys-23' (H3K23ac) acetylation (PubMed:27939640). Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358). {ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:27939640}.
uniprot
proteins
mass_dalton
137499
uniprot
proteins
post_translational_modification
PTM: Acetylated by KAT6A. {ECO:0000269|PubMed:18794358}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16387653
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18794358
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20400950
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21720545
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24065767
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25593309
uniprot
proteins
pubmed
27939639
uniprot
proteins
pubmed
27939640
uniprot
proteins
pubmed
7906940
uniprot
proteins
sequence_length
1214
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:25593309, ECO:0000269|PubMed:27939640}. Chromosome {ECO:0000269|PubMed:24065767}. Cytoplasm {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:27939640}. Note=Localization to the nucleus depends on KAT6A, ING5 and MEAF6 (PubMed:18794358, PubMed:27939640). Localizes to transcription start sites (PubMed:24065767). {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:27939640}.
uniprot
proteins