LOCUS       NM_001003694            4743 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens bromodomain and PHD finger containing 1 (BRPF1),
            transcript variant 1, mRNA.
ACCESSION   NM_001003694
VERSION     NM_001003694.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4743)
  AUTHORS   Marziali,E., Landini,S., Fiorentini,E., Rocca,C., Tiberi,L.,
            Artuso,R., Zaroili,L., Dirupo,E., Fortunato,P., Bargiacchi,S.,
            Caputo,R. and Bacci,G.M.
  TITLE     Broadening the ocular phenotypic spectrum of ultra-rare BRPF1
            variants: report of two cases
  JOURNAL   Ophthalmic Genet 45 (4), 390-394 (2024)
   PUBMED   38590032
  REMARK    GeneRIF: Broadening the ocular phenotypic spectrum of ultra-rare
            BRPF1 variants: report of two cases.
REFERENCE   2  (bases 1 to 4743)
  AUTHORS   Morison,L.D., Van Reyk,O., Baker,E., Ruaud,L., Couque,N.,
            Verloes,A., Amor,D.J. and Morgan,A.T.
  TITLE     Beyond 'speech delay': Expanding the phenotype of BRPF1-related
            disorder
  JOURNAL   Eur J Med Genet 68, 104923 (2024)
   PUBMED   38346666
  REMARK    GeneRIF: Beyond 'speech delay': Expanding the phenotype of
            BRPF1-related disorder.
REFERENCE   3  (bases 1 to 4743)
  AUTHORS   Ling,J., Tang,Z., Yang,W., Li,Y. and Dong,X.
  TITLE     Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain
            malignant progression in colon cancer
  JOURNAL   Exp Cell Res 431 (1), 113696 (2023)
   PUBMED   37423512
  REMARK    GeneRIF: Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to
            maintain malignant progression in colon cancer.
REFERENCE   4  (bases 1 to 4743)
  AUTHORS   Kose,C.C., Kaya,D., Akcan,M.B. and Silan,F.
  TITLE     Anemia and thrombocytopenia due to a novel BRPF1 variant in a
            family from Canakkale with intellectual disability and dysmorphic
            facies: Case report and review of the literature
  JOURNAL   Am J Med Genet A 191 (8), 2209-2214 (2023)
   PUBMED   37190896
  REMARK    GeneRIF: Anemia and thrombocytopenia due to a novel BRPF1 variant
            in a family from Canakkale with intellectual disability and
            dysmorphic facies: Case report and review of the literature.
            Review article
REFERENCE   5  (bases 1 to 4743)
  AUTHORS   Lalonde,M.E., Avvakumov,N., Glass,K.C., Joncas,F.H., Saksouk,N.,
            Holliday,M., Paquet,E., Yan,K., Tong,Q., Klein,B.J., Tan,S.,
            Yang,X.J., Kutateladze,T.G. and Cote,J.
  TITLE     Exchange of associated factors directs a switch in HBO1
            acetyltransferase histone tail specificity
  JOURNAL   Genes Dev 27 (18), 2009-2024 (2013)
   PUBMED   24065767
REFERENCE   6  (bases 1 to 4743)
  AUTHORS   Vezzoli,A., Bonadies,N., Allen,M.D., Freund,S.M., Santiveri,C.M.,
            Kvinlaug,B.T., Huntly,B.J., Gottgens,B. and Bycroft,M.
  TITLE     Molecular basis of histone H3K36me3 recognition by the PWWP domain
            of Brpf1
  JOURNAL   Nat Struct Mol Biol 17 (5), 617-619 (2010)
   PUBMED   20400950
  REMARK    GeneRIF: Identified is the PWWP domain of bromo and plant
            homeodomain (PHD) finger-containing protein 1 (BRPF1) as a histone
            H3 (H3K36me3) binding module; determined is the structure of this
            domain in complex with an H3K36me3-derived peptide.
REFERENCE   7  (bases 1 to 4743)
  AUTHORS   Ullah,M., Pelletier,N., Xiao,L., Zhao,S.P., Wang,K., Degerny,C.,
            Tahmasebi,S., Cayrou,C., Doyon,Y., Goh,S.L., Champagne,N., Cote,J.
            and Yang,X.J.
  TITLE     Molecular architecture of quartet MOZ/MORF histone
            acetyltransferase complexes
  JOURNAL   Mol Cell Biol 28 (22), 6828-6843 (2008)
   PUBMED   18794358
  REMARK    Erratum:[Mol Cell Biol. 2009 Feb;29(3):942]
REFERENCE   8  (bases 1 to 4743)
  AUTHORS   Doyon,Y., Cayrou,C., Ullah,M., Landry,A.J., Cote,V., Selleck,W.,
            Lane,W.S., Tan,S., Yang,X.J. and Cote,J.
  TITLE     ING tumor suppressor proteins are critical regulators of chromatin
            acetylation required for genome expression and perpetuation
  JOURNAL   Mol Cell 21 (1), 51-64 (2006)
   PUBMED   16387653
REFERENCE   9  (bases 1 to 4743)
  AUTHORS   Gregorini,A., Sahin,F.I., Lillington,D.M., Meerabux,J., Saha,V.,
            McCullagh,P., Bocci,M., Menevse,S., Papa,S. and Young,B.D.
  TITLE     Gene BR140, which is related to AF10 and AF17, maps to chromosome
            band 3p25
  JOURNAL   Genes Chromosomes Cancer 17 (4), 269-272 (1996)
   PUBMED   8946209
REFERENCE   10 (bases 1 to 4743)
  AUTHORS   Thompson,K.A., Wang,B., Argraves,W.S., Giancotti,F.G.,
            Schranck,D.P. and Ruoslahti,E.
  TITLE     BR140, a novel zinc-finger protein with homology to the TAF250
            subunit of TFIID
  JOURNAL   Biochem Biophys Res Commun 198 (3), 1143-1152 (1994)
   PUBMED   7906940
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293865.1, BC053851.1 and
            AI356310.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 23, 2019 this sequence version replaced NM_001003694.1.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC053851.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383829.7/ ENSP00000373340.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AK293865.1         7-27
            22-4619             BC053851.1         1-4598
            4620-4743           AI356310.1         1-124               c
FEATURES             Location/Qualifiers
     source          1..4743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..4743
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="bromodomain and PHD finger containing 1"
                     /db_xref="GeneID:7862"
                     /db_xref="HGNC:HGNC:14255"
                     /db_xref="MIM:602410"
     exon            1..404
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            405..1013
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     CDS             415..4077
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peregrin; bromodomain-containing protein, 140kD"
                     /codon_start=1
                     /product="peregrin isoform 1"
                     /protein_id="NP_001003694.1"
                     /db_xref="CCDS:CCDS33692.1"
                     /db_xref="GeneID:7862"
                     /db_xref="HGNC:HGNC:14255"
                     /db_xref="MIM:602410"
                     /translation="MGVDFDVKTFCHNLRATKPPYECPVETCRKVYKSYSGIEYHLYH
                     YDHDNPPPPQQTPLRKHKKKGRQSRPANKQSPSPSEVSQSPGREVMSYAQAQRMVEVD
                     LHGRVHRISIFDNLDVVSEDEEAPEEAPENGSNKENTETPAATPKSGKHKNKEKRKDS
                     NHHHHHNVSASTTPKLPEVVYRELEQDTPDAPPRPTSYYRYIEKSAEELDEEVEYDMD
                     EEDYIWLDIMNERRKTEGVSPIPQEIFEYLMDRLEKESYFESHNKGDPNALVDEDAVC
                     CICNDGECQNSNVILFCDMCNLAVHQECYGVPYIPEGQWLCRRCLQSPSRAVDCALCP
                     NKGGAFKQTDDGRWAHVVCALWIPEVCFANTVFLEPIDSIEHIPPARWKLTCYICKQR
                     GSGACIQCHKANCYTAFHVTCAQQAGLYMKMEPVRETGANGTSFSVRKTAYCDIHTPP
                     GSARRLPALSHSEGEEDEDEEEDEGKGWSSEKVKKAKAKSRIKMKKARKILAEKRAAA
                     PVVSVPCIPPHRLSKITNRLTIQRKSQFMQRLHSYWTLKRQSRNGVPLLRRLQTHLQS
                     QRNCDQVGRDSEDKNWALKEQLKSWQRLRHDLERARLLVELIRKREKLKRETIKVQQI
                     AMEMQLTPFLILLRKTLEQLQEKDTGNIFSEPVPLSEVTELDEVPDYLDHIKKPMDFF
                     TMKQNLEAYRYLNFDDFEEDFNLIVSNCLKYNAKDTIFYRAAVRLREQGGAVLRQARR
                     QAEKMGIDFETGMHIPHSLAGDEATHHTEDAAEEERLVLLENQKHLPVEEQLKLLLER
                     LDEVNASKQSVGRSRRAKMIKKEMTALRRKLAHQRETGRDGPERHGPSSRGSLTPHPA
                     ACDKDGQTDSAAEESSSQETSKGLGPNMSSTPAHEVGRRTSVLFSKKNPKTAGPPKRP
                     GRPPKNRESQMTPSHGGSPVGPPQLPIMSSLRQRKRGRSPRPSSSSDSDSDKSTEDPP
                     MDLPANGFSGGNQPVKKSFLVYRNDCSLPRSSSDSESSSSSSSSAASDRTSTTPSKQG
                     RGKPSFSRGTFPEDSSEDTSGTENEAYSVGTGRGVGHSMVRKSLGRGAGWLSEDEDSP
                     LDALDLVWAKCRGYPSYPALIIDPKMPREGMFHHGVPIPVPPLEVLKLGEQMTQEARE
                     HLYLVLFFDNKRTWQWLPRTKLVPLGVNQDLDKEKMLEGRKSNIRKSVQIAYHRALQH
                     RSKVQGEQSSETSDSD"
     exon            1014..1973
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            1974..2136
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            2137..2268
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            2269..2415
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            2416..2725
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            2726..3049
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            3050..3334
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            3335..3482
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            3483..3619
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            3620..3738
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            3739..3893
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     exon            3894..4743
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4724..4729
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="hexamer: AATAAA"
     polyA_site      4729
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="major polyA site"
ORIGIN      
        1 accctgcgca gacgccgtcg ccgccgctgc tgccgccgcc gctgccacag cctttgccgc
       61 cacggtctcc gccgccgctg tcctcgcgct gcctctggga gcctccattg ttccagcagc
      121 gcccggtccc gagaccgggc atcttggggg ctcgcgaaac gggcggcggc cgacggagtt
      181 gagaccccag ggcgccggcg ggaccaggag cggcaggggt cagctcagga atcccgggga
      241 gccgggacca aagcgtgggg cggcaggggg ccggggtggc gaggtctacg gtctccggag
      301 ttggggctcc cccttcccgg cccgactttc cccgccgacc tccccaagtg gggtcggagc
      361 cccggcgggc gcccccggcg atgagcccgg actcgaggtg gccgatgtga cagcatgggg
      421 gtggactttg atgtgaagac tttctgccac aacttgcggg cgactaagcc accatacgag
      481 tgcccggtgg agacctgccg aaaggtctac aagagttaca gtggtattga gtaccacctg
      541 taccactatg accacgacaa cccaccaccc ccacaacaaa ctccactccg caagcacaag
      601 aaaaaggggc gccagtcacg cccagccaac aagcagtcac ccagcccctc agaggtctca
      661 cagtcaccag gccgtgaggt gatgagctat gcacaggccc agcgcatggt ggaggtggac
      721 ttgcatggcc gcgtccaccg catcagcatc tttgacaacc tggatgtggt gtcagaggat
      781 gaggaagccc ccgaggaggc ccctgagaat ggcagcaaca aggagaacac tgagacacca
      841 gctgctactc ccaagtcagg caaacataag aacaaggaga agcgcaagga ctccaaccat
      901 caccaccacc acaatgtttc tgcgagcacc actcccaagc tgccagaggt ggtctatcgg
      961 gagctggaac aggacacccc tgatgcccca ccccggccaa cttcctatta ccggtacatc
     1021 gagaagtctg cagaggagct ggacgaggaa gtagagtatg acatggacga ggaggactac
     1081 atctggctgg atatcatgaa tgagcgtcgg aagacagagg gtgtaagtcc catcccgcag
     1141 gagatctttg agtacctaat ggaccgactg gagaaggagt cgtactttga gagtcataat
     1201 aaaggcgacc ctaatgcgct agtggacgag gatgctgttt gctgtatctg caatgatggt
     1261 gagtgccaga acagcaatgt catcctcttc tgtgacatgt gcaacctggc cgtgcaccag
     1321 gagtgctacg gtgtccccta tatccctgag ggccagtggc tgtgccgccg ttgcctgcag
     1381 tcaccctctc gtgctgtgga ttgtgccctg tgccccaaca agggcggtgc cttcaagcag
     1441 acagatgacg ggcgctgggc ccatgtggtg tgtgccttgt ggatccctga ggtctgcttc
     1501 gccaacacgg tcttcctaga gcctattgac agcattgagc acatcccacc agctcgctgg
     1561 aagctcacct gctacatttg caaacaacgg ggctcagggg cctgcatcca gtgccacaag
     1621 gccaactgtt acacagcttt ccatgtgaca tgcgcccagc aggctggcct ttacatgaag
     1681 atggagcctg tgcgggagac aggcgccaac ggcacctctt tcagtgtccg caagacagcc
     1741 tactgcgaca tccacacgcc tccaggttca gcacgccgac tgcctgccct gtcccacagc
     1801 gagggtgagg aggatgaaga tgaggaggag gatgagggta agggctggag ctcagagaaa
     1861 gtcaagaagg ccaaggccaa gtcccggatc aaaatgaaga aggcacggaa gatcctggca
     1921 gagaagcggg cagcagcacc tgtggtgtca gtgccctgca tcccaccaca caggcttagt
     1981 aaaatcacca accgcctgac catccaaagg aagagccagt tcatgcagag gctgcacagc
     2041 tactggacac tgaagcggca gtcacggaat ggggtcccat tgctacgtcg cctgcagaca
     2101 cacctgcaat ctcagaggaa ctgtgaccaa gttgggagag attctgagga taagaactgg
     2161 gcccttaaag aacagctcaa gtcctggcag cggctccggc atgacttgga gcgagctcgg
     2221 ctgctcgtgg aattgatccg caagcgggaa aaactcaaaa gggagacgat caaggttcag
     2281 cagattgcca tggagatgca gctgactcct ttcctcatcc tccttcgcaa aaccttggag
     2341 cagctccaag agaaggacac aggcaacatc ttcagcgagc cggtccctct gtctgaggta
     2401 accgaattgg acgaagtacc tgactaccta gaccacatca aaaagcccat ggactttttc
     2461 accatgaagc agaacttgga ggcttaccgc tacctgaatt ttgatgattt tgaggaggac
     2521 ttcaacctca tcgtcagcaa ctgcctcaag tataacgcca aggacaccat cttctaccgg
     2581 gcagcagtgc ggcttcgtga gcagggtggt gctgtgctcc gccaggcccg gcgccaggca
     2641 gaaaaaatgg gcattgactt tgagacgggc atgcatatcc cccacagcct ggctggagat
     2701 gaggccacac accacactga agatgcagcc gaggaagagc ggctggtctt gctggagaac
     2761 cagaagcacc tgccagtgga agaacagcta aagctgcttc tggagcggct ggacgaagtg
     2821 aatgccagca agcagagtgt gggccgctca cggcgtgcaa agatgatcaa gaaagagatg
     2881 acggcactgc ggcggaagct tgcccatcag cgagagacgg gacgtgatgg ccctgagcgg
     2941 catggcccct cgagccgggg tagtctgaca ccccacccgg cagcctgtga caaggatggg
     3001 cagacagata gtgcggcaga ggagagcagc agccaggaga caagcaaagg cctgggtccc
     3061 aacatgtcct caacccccgc acatgaggtg ggcaggagaa cctcagttct gttctccaaa
     3121 aagaacccga agacagctgg accgcccaag aggccgggcc ggccccccaa aaaccgggag
     3181 agccagatga cccccagcca cggaggcagt cctgtggggc ccccccagct ccccatcatg
     3241 agttccctgc gtcagcgcaa gcggggtagg agcccccggc ccagttcgag ctcagacagc
     3301 gacagtgata agtccacaga agacccccca atggacttac cagccaatgg cttcagcggt
     3361 ggaaaccaac cagtgaagaa gagtttcttg gtataccgta atgactgcag ccttccccgg
     3421 agcagctcag actctgagtc cagcagcagt agcagtagca gcgctgcttc agaccggacc
     3481 agcacaacgc cctcaaaaca aggccggggc aaaccctcct tctctcgggg cactttccca
     3541 gaggacagca gtgaggatac ctcaggcact gagaatgagg cctactccgt gggcactggc
     3601 cgcggcgtgg gccacagcat ggtaaggaag agtctgggcc ggggagctgg ctggctgtca
     3661 gaggatgagg actccccgct ggatgctctg gacctcgtgt gggccaaatg ccgaggctat
     3721 ccatcatacc cagctctgat cattgatcca aagatgcccc gagaaggtat gttccaccat
     3781 ggggttccca tccctgtgcc cccactggag gtgctgaaac ttggggagca gatgacccag
     3841 gaagcccgag agcatctcta cctcgtcctc ttctttgaca acaaacgaac ctggcagtgg
     3901 ctgcccagga ccaagctggt tcctctgggt gtgaaccagg acctagacaa ggagaagatg
     3961 ctggagggcc gcaagtccaa catccgcaag tcagtacaga tcgcctacca cagggctctg
     4021 cagcaccgca gcaaggtgca aggcgagcag agcagtgaga ccagcgatag tgattgatac
     4081 tgctcaacac agcccaacct atagtgccct gtgacttctc tcctcccctt tgctcactgt
     4141 cctggagtgg caccggcctc tgcactgact catttctggt cttggggcca gtctcagggg
     4201 aagctgggtg ggggaggtcc ctcctgccct aagtgcagct ggactgtaca gaacactcca
     4261 agggccaatg gcagttcagc gcaaggagag ggagggccca caggtcagaa aaagctccag
     4321 agacctcaca gcattgtagg gcggggtggt gggccaaagt taggacactg cgtaaaacag
     4381 gccatcccac cacctctacc tgctcatgcc aggagaatcc ataactgcct agaggcctgg
     4441 ggcccctacc ggtcgtgagg tgagtgggca tctgtccagc ctggaagagg ggcactaggt
     4501 gactccctcc cctgctgttg taaatactgt aattatcgga gaatttaaat tattctcatt
     4561 tgtaactgcg tttccgggtc gcgccagagt catttggtac taaaaaaaaa aaaaaaaaag
     4621 actgggggct gtccccattt cccttctctt tcccatagat tcccccacct ttcaaactgg
     4681 tttgtattta tttcaaagga agaaaatata ttgattctta gaaaataaac tgtcaattta
     4741 gaa
//
