Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7862
Gene name Gene Name - the full gene name approved by the HGNC.
Bromodomain and PHD finger containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRPF1
Synonyms (NCBI Gene) Gene synonyms aliases
BR140, IDDDFP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDDFP
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. T
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs762904815 C>-,CC,CCC Pathogenic Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs886041090 TG>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519509 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1057519510 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs1057519511 AG>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052041 hsa-let-7b-5p CLASH 23622248
MIRT050786 hsa-miR-17-3p CLASH 23622248
MIRT047074 hsa-miR-183-5p CLASH 23622248
MIRT043564 hsa-miR-331-3p CLASH 23622248
MIRT480714 hsa-miR-3927-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IDA 24065767
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 25281266
GO:0005634 Component Nucleus IDA 18794358, 24065767, 27939640
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602410 14255 ENSG00000156983
Protein
UniProt ID P55201
Protein name Peregrin (Bromodomain and PHD finger-containing protein 1) (Protein Br140)
Protein 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 comp
PDB 2D9E , 2RS9 , 2X35 , 2X4W , 2X4X , 2X4Y , 3L42 , 3MO8 , 4LC2 , 4QYD , 4QYL , 4UYE , 5C6S , 5C7N , 5C85 , 5C87 , 5C89 , 5D7X , 5DY7 , 5DYA , 5DYC , 5E3D , 5E3G , 5EM3 , 5EPR , 5EPS , 5EQ1 , 5ERC , 5ETB , 5ETD , 5EV9 , 5EVA , 5EWC , 5EWD , 5EWH , 5EWV , 5EWW , 5FFV , 5FFW , 5FFY , 5FG4 , 5FG5 , 5G4R , 5G4S , 5MWG , 5MWH , 5MWZ , 5MYG , 5O4S , 5O4T , 5O55
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10513 EPL1 106 255 Enhancer of polycomb-like Family
PF13831 PHD_2 287 321 Family
PF13832 zf-HC5HC2H_2 328 447 Domain
PF00439 Bromodomain 637 720 Bromodomain Domain
PF00855 PWWP 1083 1200 PWWP domain Domain
Tissue specificity TISSUE SPECIFICITY: High levels in testis. {ECO:0000269|PubMed:7906940}.
Sequence
MGVDFDVKTFCHNLRATKPPYECPVETCRKVYKSYSGIEYHLYHYDHDNPPPPQQTPLRK
HKKKGRQSRPANKQSPSPSEVSQSPGREVMSYAQAQRMVEVDLHGRVHRISIFDNLDVVS
EDEEAPEEAPENGSNKENTETPAATPKSGKHKNKEKRKDSNHHHHHNVSASTTPKLPEVV
YRELEQDTPDAPPRPTSYYRYIEKSAEELDEEVEYDMDEEDYIWLDIMNERRKTEGVSPI
PQEIFEYLMDRLEKE
SYFESHNKGDPNALVDEDAVCCICNDGECQNSNVILFCDMCNLAV
HQECYGVPYIPEGQWLCRRCL
QSPSRAVDCALCPNKGGAFKQTDDGRWAHVVCALWIPEV
CFANTVFLEPIDSIEHIPPARWKLTCYICKQRGSGACIQCHKANCYTAFHVTCAQQAGLY
MKMEPVRETGANGTSFSVRKTAYCDIH
TPPGSARRLPALSHSEGEEDEDEEEDEGKGWSS
EKVKKAKAKSRIKMKKARKILAEKRAAAPVVSVPCIPPHRLSKITNRLTIQRKSQFMQRL
HSYWTLKRQSRNGVPLLRRLQTHLQSQRNCDQVGRDSEDKNWALKEQLKSWQRLRHDLER
ARLLVELIRKREKLKRETIKVQQIAMEMQLTPFLILLRKTLEQLQEKDTGNIFSEPVPLS
EVPDYLDHIKKPMDFFTMKQNLEAYRYLNFDDFEEDFNLIVSNCLKYNAKDTIFYRAAVR

LREQGGAVLRQARRQAEKMGIDFETGMHIPHSLAGDEATHHTEDAAEEERLVLLENQKHL
PVEEQLKLLLERLDEVNASKQSVGRSRRAKMIKKEMTALRRKLAHQRETGRDGPERHGPS
SRGSLTPHPAACDKDGQTDSAAEESSSQETSKGLGPNMSSTPAHEVGRRTSVLFSKKNPK
TAGPPKRPGRPPKNRESQMTPSHGGSPVGPPQLPIMSSLRQRKRGRSPRPSSSSDSDSDK
STEDPPMDLPANGFSGGNQPVKKSFLVYRNDCSLPRSSSDSESSSSSSSSAASDRTSTTP
SKQGRGKPSFSRGTFPEDSSEDTSGTENEAYSVGTGRGVGHSMVRKSLGRGAGWLSEDED
SPLDALDLVWAKCRGYPSYPALIIDPKMPREGMFHHGVPIPVPPLEVLKLGEQMTQEARE
HLYLVLFFDNKRTWQWLPRTKLVPLGVNQDLDKEKMLEGRKSNIRKSVQIAYHRALQHRS

KVQGEQSSETSDSD
Sequence length 1214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Regulation of TP53 Activity through Acetylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Intellectual developmental disorder with dysmorphic facies and ptosis INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS rs886041090, rs1057519509, rs1057519510, rs1057519511, rs1057519512, rs1057519513, rs1057519514, rs1057519515, rs1057519516, rs1057519517, rs1553697341, rs1553695017, rs1559662068, rs1559662077, rs1575155995 27939640, 27939639
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Neurodevelopmental disorders Neurodevelopmental Disorders rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330
View all (2 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Apraxias Associate 38346666
Articulation Disorders Associate 38346666
Blepharophimosis Associate 27939639, 31020800
Carcinoma Hepatocellular Associate 35822928, 38072045
Death Sudden Associate 32652122
Dental Fissures Associate 31020800
Facial Dysmorphism with Multiple Malformations Associate 31020800, 38346666
Genetic Diseases Inborn Associate 31020800
Immunologic Deficiency Syndromes Associate 27939639
Intellectual Disability Associate 27939639, 31020800, 33157260, 38346666