LOCUS       NM_032758               1053 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens PHD finger protein 5A (PHF5A), mRNA.
ACCESSION   NM_032758
VERSION     NM_032758.4
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 1053)
  AUTHORS   Chang,Z., Jia,Y., Gao,M., Song,L., Zhang,W., Zhao,R., Yu,D.,
            Liu,X., Li,J. and Qin,Y.
  TITLE     PHF5A promotes esophageal squamous cell carcinoma progression via
            stabilizing VEGFA
  JOURNAL   Biol Direct 19 (1), 19 (2024)
   PUBMED   38429756
  REMARK    GeneRIF: PHF5A promotes esophageal squamous cell carcinoma
            progression via stabilizing VEGFA.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1053)
  AUTHORS   Ding,N., Li,M. and Zhao,X.
  TITLE     PHF5A is a potential diagnostic, prognostic, and immunological
            biomarker in pan-cancer
  JOURNAL   Sci Rep 13 (1), 17521 (2023)
   PUBMED   37845358
  REMARK    GeneRIF: PHF5A is a potential diagnostic, prognostic, and
            immunological biomarker in pan-cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1053)
  AUTHORS   Harms,F.L., Dingemans,A.J.M., Hempel,M., Pfundt,R., Bierhals,T.,
            Casar,C., Muller,C., Niermeijer,J.F., Fischer,J., Jahn,A.,
            Hubner,C., Majore,S., Agolini,E., Novelli,A., van der Smagt,J.,
            Ernst,R., van Binsbergen,E., Mancini,G.M.S., van Slegtenhorst,M.,
            Barakat,T.S., Wakeling,E.L., Kamath,A., Downie,L., Pais,L.,
            White,S.M., de Vries,B.B.A. and Kutsche,K.
  TITLE     De novo PHF5A variants are associated with craniofacial
            abnormalities, developmental delay, and hypospadias
  JOURNAL   Genet Med 25 (10), 100927 (2023)
   PUBMED   37422718
  REMARK    GeneRIF: De novo PHF5A variants are associated with craniofacial
            abnormalities, developmental delay, and hypospadias.
            Erratum:[Genet Med. 2023 Nov;25(11):100964. doi:
            10.1016/j.gim.2023.100964.. PMID: 37728613]
REFERENCE   4  (bases 1 to 1053)
  AUTHORS   Liu,C., Li,G., Zheng,S., She,L., Lu,S., Wang,Y., Huang,D.,
            Zhang,X., Sun,L., Liu,Y. and Qiu,Y.
  TITLE     PHF5A regulates the expression of the DOCK5 variant to promote
            HNSCC progression through p38 MAPK activation
  JOURNAL   Biol Direct 18 (1), 39 (2023)
   PUBMED   37434235
  REMARK    GeneRIF: PHF5A regulates the expression of the DOCK5 variant to
            promote HNSCC progression through p38 MAPK activation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1053)
  AUTHORS   Yang,F., Bian,T., Zhan,X., Chen,Z., Xing,Z., Larsen,N.A., Zhang,X.
            and Shi,Y.
  TITLE     Mechanisms of the RNA helicases DDX42 and DDX46 in human U2 snRNP
            assembly
  JOURNAL   Nat Commun 14 (1), 897 (2023)
   PUBMED   36797247
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1053)
  AUTHORS   Will,C.L., Schneider,C., Hossbach,M., Urlaub,H., Rauhut,R.,
            Elbashir,S., Tuschl,T. and Luhrmann,R.
  TITLE     The human 18S U11/U12 snRNP contains a set of novel proteins not
            found in the U2-dependent spliceosome
  JOURNAL   RNA 10 (6), 929-941 (2004)
   PUBMED   15146077
REFERENCE   7  (bases 1 to 1053)
  AUTHORS   Will,C.L., Urlaub,H., Achsel,T., Gentzel,M., Wilm,M. and
            Luhrmann,R.
  TITLE     Characterization of novel SF3b and 17S U2 snRNP proteins, including
            a human Prp5p homologue and an SF3b DEAD-box protein
  JOURNAL   EMBO J 21 (18), 4978-4988 (2002)
   PUBMED   12234937
REFERENCE   8  (bases 1 to 1053)
  AUTHORS   Zhou,Z., Licklider,L.J., Gygi,S.P. and Reed,R.
  TITLE     Comprehensive proteomic analysis of the human spliceosome
  JOURNAL   Nature 419 (6903), 182-185 (2002)
   PUBMED   12226669
REFERENCE   9  (bases 1 to 1053)
  AUTHORS   Trappe,R., Ahmed,M., Glaser,B., Vogel,C., Tascou,S., Burfeind,P.
            and Engel,W.
  TITLE     Identification and characterization of a novel murine multigene
            family containing a PHD-finger-like motif
  JOURNAL   Biochem Biophys Res Commun 293 (2), 816-826 (2002)
   PUBMED   12054543
  REMARK    GeneRIF: The molecular and genetic research in this paper is
            performed on mouse but the paper identifies and discusses
            homologues found in human genomic sequence databases.
REFERENCE   10 (bases 1 to 1053)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU584712.1, AL008582.11 and
            BC007321.2.
            
            On Nov 23, 2018 this sequence version replaced NM_032758.3.
            
            Summary: This gene encodes a subunit of the splicing factor 3b
            protein complex. Splicing factor 3b, together with splicing factor
            3a and a 12S RNA unit, forms the U2 small nuclear
            ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a
            complex binds pre-mRNA upstream of the intron's branch site in a
            sequence-independent manner and may anchor the U2 snRNP to the
            pre-mRNA. The protein encoded by this gene contains a
            PHD-finger-like domain that is flanked by highly basic N- and
            C-termini. This protein belongs to the PHD-finger superfamily and
            may act as a chromatin-associated protein. This gene has several
            pseudogenes on different chromosomes. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR5189658.132999.1,
                                           SRR1163658.184099.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216252.4/ ENSP00000216252.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BU584712.1         35-37
            4-91                AL008582.11        70129-70216         c
            92-115              AL008582.11        69651-69674         c
            116-282             AL008582.11        68975-69141         c
            283-1045            AL008582.11        61252-62014         c
            1046-1053           BC007321.2         1041-1048
FEATURES             Location/Qualifiers
     source          1..1053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..1053
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /note="PHD finger protein 5A"
                     /db_xref="GeneID:84844"
                     /db_xref="HGNC:HGNC:18000"
                     /db_xref="MIM:617846"
     exon            1..91
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..372
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /note="PHD-finger 5a; PHD finger-like domain protein 5A;
                     splicing factor 3B associated 14 kDa protein; splicing
                     factor 3b, subunit 7"
                     /codon_start=1
                     /product="PHD finger-like domain-containing protein 5A"
                     /protein_id="NP_116147.1"
                     /db_xref="CCDS:CCDS14016.1"
                     /db_xref="GeneID:84844"
                     /db_xref="HGNC:HGNC:18000"
                     /db_xref="MIM:617846"
                     /translation="MAKHHPDLIFCRKQAGVAIGRLCEKCDGKCVICDSYVRPCTLVR
                     ICDECNYGSYQGRCVICGGPGVSDAYYCKECTIQEKDRDGCPKIVNLGSSKTDLFYER
                     KKYGFKKR"
     exon            92..115
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /inference="alignment:Splign:2.1.0"
     exon            116..282
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /inference="alignment:Splign:2.1.0"
     exon            283..1053
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1027..1032
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /note="hexamer: AATAAA"
     polyA_site      1053
                     /gene="PHF5A"
                     /gene_synonym="bK223H9.2; INI; Rds3; SAP14b; SF3b14b;
                     SF3B7"
                     /note="major polyA site"
ORIGIN      
        1 agttcccgaa gcttccggtg gccggcttag ttaggagcta tggctaaaca tcatcctgat
       61 ttgatctttt gccgcaagca ggctggtgtt gccatcggaa gactgtgtga aaaatgtgat
      121 ggcaagtgtg tgatttgtga ctcctatgtg cgtccctgca ctctggtgcg catatgtgat
      181 gagtgtaact atggatctta ccaggggcgc tgtgtgatct gtggaggacc tggggtctct
      241 gatgcctatt attgtaagga gtgcaccatc caggagaagg acagagatgg ctgcccaaag
      301 attgtcaatc tggggagctc taagacagac ctcttctatg aacgcaaaaa atacggcttc
      361 aagaagaggt gattggtggg tggccccttc ctccccccaa catcagtctg ctgcagctgc
      421 cagaaaacat gcctactact accagcagaa agggagcaga gcccagagca tcaccaggag
      481 tgcctgctag tgtactggca gcttgccacc ccctcctctc ccttcaccca gacacgtggt
      541 agggatggaa aaggattctt cacagagcac tctggcacac catatcggag aaaacttgat
      601 agattagtta atggtttttc ttgaattcga gaagcaaaga tctgttctcc atattggtat
      661 gttctccctc aaccaagatc ttctaaaaag aaataatatt ttagtcttct gcttgaggaa
      721 ctgactgtga agcgacgccc agtgaaaaac atgttcttgc agcagctctg gtggcagctg
      781 tccttgagga acctttggtg tgtggtggga agctatcaga acaagaaatg taggcatttc
      841 ccgttttttt tggggggggg gtgggggggc agggctctgc cctcttgaaa ggcatttact
      901 tgtttaacac ttgtccagct acagtggggt acagtagctg gctattcaca ggcatcatca
      961 tagcccacta gtctcatatt attttccttt tgagaaattg gaaactcttt ctgttgctat
     1021 tatattaata aagttggtgt ttattttctg gta
//
