LOCUS       NP_067013                531 aa            linear   PRI 13-MAY-2024
DEFINITION  polypyrimidine tract-binding protein 2 isoform 6 [Homo sapiens].
ACCESSION   NP_067013
VERSION     NP_067013.1
DBSOURCE    REFSEQ: accession NM_021190.4
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  (residues 1 to 531)
  AUTHORS   Moreno-Aguilera,M., Neher,A.M., Mendoza,M.B., Dodel,M.,
            Mardakheh,F.K., Ortiz,R. and Gallego,C.
  TITLE     KIS counteracts PTBP2 and regulates alternative exon usage in
            neurons
  JOURNAL   Elife 13, e96048 (2024)
   PUBMED   38597390
  REMARK    GeneRIF: KIS counteracts PTBP2 and regulates alternative exon usage
            in neurons.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 531)
  AUTHORS   Dawicki-McKenna,J.M., Felix,A.J., Waxman,E.A., Cheng,C.,
            Amado,D.A., Ranum,P.T., Bogush,A., Dungan,L.V., Maguire,J.A.,
            Gagne,A.L., Heller,E.A., French,D.L., Davidson,B.L. and
            Prosser,B.L.
  TITLE     Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target
            for therapeutic splice switching
  JOURNAL   Nat Commun 14 (1), 2628 (2023)
   PUBMED   37149717
  REMARK    GeneRIF: Mapping PTBP2 binding in human brain identifies SYNGAP1 as
            a target for therapeutic splice switching.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 531)
  AUTHORS   Mei,H., Yin,B., Yang,W., Zhang,J., Lu,H., Qi,X., Mei,W., Zhang,H.
            and Zhang,J.
  TITLE     Associations between Gene-Gene Interaction and Overweight/Obesity
            of 12-Month-Old Chinese Infants
  JOURNAL   Biomed Res Int 2022, 1499454 (2022)
   PUBMED   35295960
  REMARK    GeneRIF: Associations between Gene-Gene Interaction and
            Overweight/Obesity of 12-Month-Old Chinese Infants.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 531)
  AUTHORS   Paradis,C., Cloutier,P., Shkreta,L., Toutant,J., Klarskov,K. and
            Chabot,B.
  TITLE     hnRNP I/PTB can antagonize the splicing repressor activity of
            SRp30c
  JOURNAL   RNA 13 (8), 1287-1300 (2007)
   PUBMED   17548433
  REMARK    GeneRIF: Study shows that PTB can function as an anti-repressor
            molecule to counteract the splicing inhibitory activity of SRp30c.
REFERENCE   5  (residues 1 to 531)
  AUTHORS   Romanelli,M.G., Lorenzi,P. and Morandi,C.
  TITLE     Identification and analysis of the human neural polypyrimidine
            tract binding protein (nPTB) gene promoter region
  JOURNAL   Gene 356, 11-18 (2005)
   PUBMED   16002244
  REMARK    GeneRIF: The nPTB proximal promoter, although rich in G+C content
            and presenting putative binding sites for the transcription factors
            Sp1, NF-1, NF-kB and Oct-1, lacks a typical TATA box.
REFERENCE   6  (residues 1 to 531)
  AUTHORS   Rahman,L., Bliskovski,V., Kaye,F.J. and Zajac-Kaye,M.
  TITLE     Evolutionary conservation of a 2-kb intronic sequence flanking a
            tissue-specific alternative exon in the PTBP2 gene
  JOURNAL   Genomics 83 (1), 76-84 (2004)
   PUBMED   14667811
REFERENCE   7  (residues 1 to 531)
  AUTHORS   Mitchell,S.A., Spriggs,K.A., Coldwell,M.J., Jackson,R.J. and
            Willis,A.E.
  TITLE     The Apaf-1 internal ribosome entry segment attains the correct
            structural conformation for function via interactions with PTB and
            unr
  JOURNAL   Mol Cell 11 (3), 757-771 (2003)
   PUBMED   12667457
REFERENCE   8  (residues 1 to 531)
  AUTHORS   Rahman,L., Bliskovski,V., Reinhold,W. and Zajac-Kaye,M.
  TITLE     Alternative splicing of brain-specific PTB defines a
            tissue-specific isoform pattern that predicts distinct functional
            roles
  JOURNAL   Genomics 80 (3), 245-249 (2002)
   PUBMED   12213192
REFERENCE   9  (residues 1 to 531)
  AUTHORS   Tateiwa,H., Gotoh,N., Ichikawa,M., Kikuchi,T. and Yoshimura,N.
  TITLE     Molecular cloning and characterization of human PTB-like protein: a
            possible retinal autoantigen of cancer-associated retinopathy
  JOURNAL   J Neuroimmunol 120 (1-2), 161-169 (2001)
   PUBMED   11694331
REFERENCE   10 (residues 1 to 531)
  AUTHORS   Markovtsov,V., Nikolic,J.M., Goldman,J.A., Turck,C.W., Chou,M.Y.
            and Black,D.L.
  TITLE     Cooperative assembly of an hnRNP complex induced by a
            tissue-specific homolog of polypyrimidine tract binding protein
  JOURNAL   Mol Cell Biol 20 (20), 7463-7479 (2000)
   PUBMED   11003644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB473562.1, AF176085.1,
            BC016582.2, AI968454.1 and AI052528.1.
            
            Summary: The protein encoded by this gene binds to intronic
            polypyrimidine clusters in pre-mRNA molecules and is implicated in
            controlling the assembly of other splicing-regulatory proteins.
            This protein is very similar to the polypyrimidine tract binding
            protein (PTB) but most of its isoforms are expressed primarily in
            the brain. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (6, also known as nPTB1) uses two
            alternate in-frame splice sites in the 3' coding region, compared
            to variant 1. The encoded isoform (6) is shorter than 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 :: BK000526.1, AF176085.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000674951.1/ ENSP00000502818.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..531
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.3"
     Protein         1..531
                     /product="polypyrimidine tract-binding protein 2 isoform
                     6"
                     /note="neural polypyrimidine tract binding protein;
                     PTB-like protein; neurally-enriched homolog of PTB"
                     /calculated_mol_wt=57360
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91Z31; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91Z31; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     Region          57..531
                     /region_name="hnRNP-L_PTB"
                     /note="hnRNP-L/PTB/hephaestus splicing factor family;
                     TIGR01649"
                     /db_xref="CDD:273733"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     CDS             1..531
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /coded_by="NM_021190.4:82..1677"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS754.1"
                     /db_xref="GeneID:58155"
                     /db_xref="HGNC:HGNC:17662"
                     /db_xref="MIM:608449"
ORIGIN      
        1 mdgivtevav gvkrgsdell sgsvlsspns nmssmvvtan gndskkfkge dkmdgapsrv
       61 lhirklpgev tetevialgl pfgkvtnilm lkgknqafle lateeaaitm vnyysavtph
      121 lrnqpiyiqy snhkelktdn tlnqraqavl qavtavqtan tplsgttvse savtpaqspv
      181 lriiidnmyy pvtldvlhqi fskfgavlki itftknnqfq allqygdpvn aqqaklaldg
      241 qniynacctl ridfsklvnl nvkynndksr dytrpdlpsg dgqpaldpai aaafaketsl
      301 lavpgalspl aipnaaaaaa aaaagrvgmp gvsaggntvl lvsnlneemv tpqslftlfg
      361 vygdvqrvki lynkkdsali qmadgnqsql amnhlngqkm ygkiirvtls khqtvqlpre
      421 glddqgltkd fgnsplhrfk kpgsknfqni fppsatlhls nippsvaeed lrtlfantgg
      481 tvkafkffqd hkmallqmat veeaiqalid lhnynlgenh hlrvsfskst i
//
