BRPF1
Peregrin
Also known as: BR140, BRPF1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P55201
- Gene
- BRPF1
- Ensembl
- ENSG00000156983
- Chromosome
- 3
- Canonical length
- 1214 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol
OverviewNCBI 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. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Canonical amino-acid sequenceUniProt
1214 residues, UniProt reviewed canonical sequence.
>P55201|BRPF1
1 MGVDFDVKTF CHNLRATKPP YECPVETCRK VYKSYSGIEY HLYHYDHDNP PPPQQTPLRK
61 HKKKGRQSRP ANKQSPSPSE VSQSPGREVM SYAQAQRMVE VDLHGRVHRI SIFDNLDVVS
121 EDEEAPEEAP ENGSNKENTE TPAATPKSGK HKNKEKRKDS NHHHHHNVSA STTPKLPEVV
181 YRELEQDTPD APPRPTSYYR YIEKSAEELD EEVEYDMDEE DYIWLDIMNE RRKTEGVSPI
241 PQEIFEYLMD RLEKESYFES HNKGDPNALV DEDAVCCICN DGECQNSNVI LFCDMCNLAV
301 HQECYGVPYI PEGQWLCRRC LQSPSRAVDC ALCPNKGGAF KQTDDGRWAH VVCALWIPEV
361 CFANTVFLEP IDSIEHIPPA RWKLTCYICK QRGSGACIQC HKANCYTAFH VTCAQQAGLY
421 MKMEPVRETG ANGTSFSVRK TAYCDIHTPP GSARRLPALS HSEGEEDEDE EEDEGKGWSS
481 EKVKKAKAKS RIKMKKARKI LAEKRAAAPV VSVPCIPPHR LSKITNRLTI QRKSQFMQRL
541 HSYWTLKRQS RNGVPLLRRL QTHLQSQRNC DQVGRDSEDK NWALKEQLKS WQRLRHDLER
601 ARLLVELIRK REKLKRETIK VQQIAMEMQL TPFLILLRKT LEQLQEKDTG NIFSEPVPLS
661 EVPDYLDHIK KPMDFFTMKQ NLEAYRYLNF DDFEEDFNLI VSNCLKYNAK DTIFYRAAVR
721 LREQGGAVLR QARRQAEKMG IDFETGMHIP HSLAGDEATH HTEDAAEEER LVLLENQKHL
781 PVEEQLKLLL ERLDEVNASK QSVGRSRRAK MIKKEMTALR RKLAHQRETG RDGPERHGPS
841 SRGSLTPHPA ACDKDGQTDS AAEESSSQET SKGLGPNMSS TPAHEVGRRT SVLFSKKNPK
901 TAGPPKRPGR PPKNRESQMT PSHGGSPVGP PQLPIMSSLR QRKRGRSPRP SSSSDSDSDK
961 STEDPPMDLP ANGFSGGNQP VKKSFLVYRN DCSLPRSSSD SESSSSSSSS AASDRTSTTP
1021 SKQGRGKPSF SRGTFPEDSS EDTSGTENEA YSVGTGRGVG HSMVRKSLGR GAGWLSEDED
1081 SPLDALDLVW AKCRGYPSYP ALIIDPKMPR EGMFHHGVPI PVPPLEVLKL GEQMTQEARE
1141 HLYLVLFFDN KRTWQWLPRT KLVPLGVNQD LDKEKMLEGR KSNIRKSVQI AYHRALQHRS
1201 KVQGEQSSET SDSDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BRPF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 22 nTPM
- thymus: 12 nTPM
- testis: 9.6 nTPM
- lymph node: 8.5 nTPM
- skin: 7.8 nTPM
- parathyroid gland: 7.7 nTPM
Single-cell type
- megakaryocyte progenitors: 18 nCPM
- early primary spermatocytes: 17 nCPM
- neutrophil progenitors: 15 nCPM
- differentiating spermatogonia: 15 nCPM
- thymic myoid cells: 15 nCPM
- erythrocyte progenitors: 15 nCPM
Immune cell
- NK-cell: 5.2 nTPM
- plasmacytoid DC: 3.6 nTPM
- MAIT T-cell: 2.7 nTPM
- gdT-cell: 2.3 nTPM
- naive CD4 T-cell: 2.1 nTPM
- naive CD8 T-cell: 2.1 nTPM
Brain region
- cerebellum: 16 nTPM
- cerebral cortex: 13 nTPM
- basal ganglia: 13 nTPM
- hippocampal formation: 12 nTPM
- thalamus: 11 nTPM
- white matter: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BRPF1.
Disease | AllUniProt
Conditions BRPF1 is implicated in, by any mechanism.
- Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) MIM:617333
Disease | GeneticClinVar
97 pathogenic / likely-pathogenic of 505 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual developmental disorder with dysmorphic facies and ptosis
- Inborn genetic diseases
- BRPF1-related disorder
- Intellectual disability
- Neurodevelopmental disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.18
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.83
- DepMap mean gene effect
- -0.23
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin remodeling
- positive regulation of DNA-templated transcription
- regulation of developmental process
- regulation of DNA-templated transcription
- regulation of hemopoiesis
- regulation of transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PWWP domain
- Bromodomain
- Zinc finger, PHD-type
- Zinc finger, FYVE/PHD-type
- Zinc finger, RING/FYVE/PHD-type
- Zinc finger C2H2-type
- Bromodomain, conserved site
- Enhancer of polycomb-like, N-terminal
- Zinc finger, PHD-type, conserved site
- Zinc finger, PHD-finger
- Extended PHD (ePHD) domain
- Bromodomain-like superfamily
- Histone Modification Regulator
- Bromodomain
- PWWP domain
- Enhancer of polycomb-like
- PHD-finger
- PHD-zinc-finger like domain
- BRPF1, PHD domain
- Peregrin, ePHD domain
- Peregrin, PWWP domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BRPF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BRPF1 as an antibody target. Whether an autoantibody or antibody against BRPF1 could matter depends on whether native BRPF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BRPF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BRPF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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