LOCUS       NM_001032382            1028 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript
            variant 3, mRNA.
ACCESSION   NM_001032382
VERSION     NM_001032382.2
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 1028)
  AUTHORS   Liu,X., Zhang,J., Wang,Z., Yan,M., Xu,M., Li,G., Shender,V.,
            Wei,J.J., Li,J., Shao,C., Zhang,S., Kong,B., Song,K. and Liu,Z.
  TITLE     Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian
            Cancer Progression
  JOURNAL   Adv Sci (Weinh) 11 (15), e2306229 (2024)
   PUBMED   38342602
  REMARK    GeneRIF: Splicing Factor PQBP1 Curtails BAX Expression to Promote
            Ovarian Cancer Progression.
REFERENCE   2  (bases 1 to 1028)
  AUTHORS   Cheng,S., Liu,X., Yuan,L., Wang,N., Zhang,Z.C. and Han,J.
  TITLE     The role of PQBP1 in neural development and function
  JOURNAL   Biochem Soc Trans 51 (1), 363-372 (2023)
   PUBMED   36815699
  REMARK    GeneRIF: The role of PQBP1 in neural development and function.
            Review article
REFERENCE   3  (bases 1 to 1028)
  AUTHORS   Tanaka,H. and Okazawa,H.
  TITLE     PQBP1: The Key to Intellectual Disability, Neurodegenerative
            Diseases, and Innate Immunity
  JOURNAL   Int J Mol Sci 23 (11), 6227 (2022)
   PUBMED   35682906
  REMARK    GeneRIF: PQBP1: The Key to Intellectual Disability,
            Neurodegenerative Diseases, and Innate Immunity.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1028)
  AUTHORS   Jin,M., Shiwaku,H., Tanaka,H., Obita,T., Ohuchi,S., Yoshioka,Y.,
            Jin,X., Kondo,K., Fujita,K., Homma,H., Nakajima,K., Mizuguchi,M.
            and Okazawa,H.
  TITLE     Tau activates microglia via the PQBP1-cGAS-STING pathway to promote
            brain inflammation
  JOURNAL   Nat Commun 12 (1), 6565 (2021)
   PUBMED   34782623
  REMARK    GeneRIF: Tau activates microglia via the PQBP1-cGAS-STING pathway
            to promote brain inflammation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1028)
  AUTHORS   Tarpey,P.S., Smith,R., Pleasance,E., Whibley,A., Edkins,S.,
            Hardy,C., O'Meara,S., Latimer,C., Dicks,E., Menzies,A.,
            Stephens,P., Blow,M., Greenman,C., Xue,Y., Tyler-Smith,C.,
            Thompson,D., Gray,K., Andrews,J., Barthorpe,S., Buck,G., Cole,J.,
            Dunmore,R., Jones,D., Maddison,M., Mironenko,T., Turner,R.,
            Turrell,K., Varian,J., West,S., Widaa,S., Wray,P., Teague,J.,
            Butler,A., Jenkinson,A., Jia,M., Richardson,D., Shepherd,R.,
            Wooster,R., Tejada,M.I., Martinez,F., Carvill,G., Goliath,R., de
            Brouwer,A.P., van Bokhoven,H., Van Esch,H., Chelly,J., Raynaud,M.,
            Ropers,H.H., Abidi,F.E., Srivastava,A.K., Cox,J., Luo,Y.,
            Mallya,U., Moon,J., Parnau,J., Mohammed,S., Tolmie,J.L.,
            Shoubridge,C., Corbett,M., Gardner,A., Haan,E., Rujirabanjerd,S.,
            Shaw,M., Vandeleur,L., Fullston,T., Easton,D.F., Boyle,J.,
            Partington,M., Hackett,A., Field,M., Skinner,C., Stevenson,R.E.,
            Bobrow,M., Turner,G., Schwartz,C.E., Gecz,J., Raymond,F.L.,
            Futreal,P.A. and Stratton,M.R.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
REFERENCE   6  (bases 1 to 1028)
  AUTHORS   Iwamoto,K., Huang,Y. and Ueda,S.
  TITLE     Genomic organization and alternative transcripts of the human
            PQBP-1 gene
  JOURNAL   Gene 259 (1-2), 69-73 (2000)
   PUBMED   11163963
REFERENCE   7  (bases 1 to 1028)
  AUTHORS   Komuro,A., Saeki,M. and Kato,S.
  TITLE     Npw38, a novel nuclear protein possessing a WW domain capable of
            activating basal transcription
  JOURNAL   Nucleic Acids Res 27 (9), 1957-1965 (1999)
   PUBMED   10198427
REFERENCE   8  (bases 1 to 1028)
  AUTHORS   Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   9  (bases 1 to 1028)
  AUTHORS   Arveiler,B., Alembik,Y., Hanauer,A., Jacobs,P., Tranebjaerg,L.,
            Mikkelsen,M., Puissant,H., Piet,L.L. and Mandel,J.L.
  TITLE     Linkage analysis suggests at least two loci for X-linked
            non-specific mental retardation
  JOURNAL   Am J Med Genet 30 (1-2), 473-483 (1988)
   PUBMED   3177465
REFERENCE   10 (bases 1 to 1028)
  AUTHORS   Fox,P., Fox,D. and Gerrard,J.W.
  TITLE     X-linked mental retardation: Renpenning revisited
  JOURNAL   Am J Med Genet 7 (4), 491-495 (1980)
   PUBMED   7211958
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN292761.1, AB016533.1 and
            BC012358.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_001032382.1.
            
            Summary: This gene encodes a nuclear polyglutamine-binding protein
            that is involved with transcription activation. The encoded protein
            contains a WW domain. Mutations in this gene have been found in
            patients with Renpenning syndrome 1 and other syndromes with
            X-linked cognitive disability. Multiple alternatively spliced
            transcript variants that encode different protein isoforms have
            been described for this gene.[provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same
            protein (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 :: AJ242829.1, SRR11853558.25144.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000447146.7/ ENSP00000391759.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 CN292761.1         19-19
            2-1021              AB016533.1         1-1020
            1022-1028           BC012358.1         932-938
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1028
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="polyglutamine binding protein 1"
                     /db_xref="GeneID:10084"
                     /db_xref="HGNC:HGNC:9330"
                     /db_xref="MIM:300463"
     exon            1..153
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /inference="alignment:Splign:2.1.0"
     exon            154..238
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /inference="alignment:Splign:2.1.0"
     CDS             172..969
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="isoform 1 is encoded by transcript variant 3;
                     polyglutamine tract-binding protein 1; 38 kDa nuclear
                     protein containing a WW domain"
                     /codon_start=1
                     /product="polyglutamine-binding protein 1 isoform 1"
                     /protein_id="NP_001027554.1"
                     /db_xref="CCDS:CCDS14309.1"
                     /db_xref="GeneID:10084"
                     /db_xref="HGNC:HGNC:9330"
                     /db_xref="MIM:300463"
                     /translation="MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATR
                     LEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEK
                     LDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
                     RDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWS
                     TGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD"
     exon            239..350
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /inference="alignment:Splign:2.1.0"
     exon            351..463
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /inference="alignment:Splign:2.1.0"
     exon            464..748
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /inference="alignment:Splign:2.1.0"
     exon            749..812
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /inference="alignment:Splign:2.1.0"
     exon            813..1028
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      998..1003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="hexamer: AATAAA"
     polyA_site      1028
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="major polyA site"
ORIGIN      
        1 cagttacttt caggctcggg gagtgaaggc ctcgttgaga gaaggtctca ttcggtgttt
       61 tgggaagaga gtcgtgtggg cccaggtatc gtagcggcga cacgagagag acgggcggtg
      121 tgacagcctt ccactacctg cacgagtgta ttggtctgtc tgctatcagc tatgccgctg
      181 cccgttgcgc tgcagacccg cttggccaag agaggcatcc tcaaacatct ggagcctgaa
      241 ccagaggaag agatcattgc cgaggactat gacgatgatc ctgtggacta cgaggccacc
      301 aggttggagg gcctaccacc aagctggtac aaggtgttcg acccttcctg cgggctccct
      361 tactactgga atgcagacac agaccttgta tcctggctct ccccacatga ccccaactcc
      421 gtggttacca aatcggccaa gaagctcaga agcagtaatg cagatgctga agaaaagttg
      481 gaccggagcc atgacaagtc ggacaggggc catgacaagt cggaccgcag ccatgagaaa
      541 ctagacaggg gccacgacaa gtcagaccgg ggccacgaca agtctgacag ggatcgagag
      601 cgtggctatg acaaggtaga cagagagaga gagcgagaca gggaacggga tcgggaccgc
      661 gggtatgaca aggcagaccg ggaagagggc aaagaacggc gccaccatcg ccgggaggag
      721 ctggctccct atcccaagag caagaaggca gtaagccgaa aggatgaaga gttagacccc
      781 atggacccta gctcatactc agacgccccc cggggcacgt ggtcaacagg actccccaag
      841 cggaatgagg ccaagactgg cgctgacacc acagcagctg ggcccctctt ccagcagcgg
      901 ccgtatccat ccccaggggc tgtgctccgg gccaatgcag aggcctcccg aaccaagcag
      961 caggattgaa gcttcggcct ccctggccct gggttaaaat aaaagctttc tggtgatcct
     1021 gcccacca
//
