LOCUS       NM_001372179            2141 bp    mRNA    linear   PRI 06-FEB-2025
DEFINITION  Homo sapiens poly(A) binding protein cytoplasmic 1 like (PABPC1L),
            transcript variant 7, mRNA.
ACCESSION   NM_001372179
VERSION     NM_001372179.1
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 2141)
  AUTHORS   Shu,G., Chen,M., Liao,W., Fu,L., Lin,M., Gui,C., Cen,J., Lu,J.,
            Chen,Z., Wei,J., Chen,W., Wang,Y., Zhu,J., Zhao,T., Liu,X.,
            Jing,J., Liu,G.C., Pan,Y., Luo,J. and Zhang,J.
  TITLE     PABPC1L Induces IDO1 to Promote Tryptophan Metabolism and Immune
            Suppression in Renal Cell Carcinoma
  JOURNAL   Cancer Res 84 (10), 1659-1679 (2024)
   PUBMED   38382068
  REMARK    GeneRIF: PABPC1L Induces IDO1 to Promote Tryptophan Metabolism and
            Immune Suppression in Renal Cell Carcinoma.
REFERENCE   2  (bases 1 to 2141)
  AUTHORS   Okutman,O., Gurbuz,A.S., Buyuk,U., Real,E., Leconte,R., Chennen,K.,
            Mayer,C., Muller,J., Le May,N. and Viville,S.
  TITLE     Pathogenic missense variation in PABPC1L/EPAB causes female
            infertility due to oocyte maturation arrest at the germinal vesicle
            stage
  JOURNAL   J Assist Reprod Genet 41 (2), 311-322 (2024)
   PUBMED   38177974
  REMARK    GeneRIF: Pathogenic missense variation in PABPC1L/EPAB causes
            female infertility due to oocyte maturation arrest at the germinal
            vesicle stage.
REFERENCE   3  (bases 1 to 2141)
  AUTHORS   Wang,X., Zhou,R., Lu,X., Dai,S., Liu,M., Jiang,C., Yang,Y.,
            Shen,Y., Wang,Y. and Liu,H.
  TITLE     Identification of nonfunctional PABPC1L causing oocyte maturation
            abnormalities and early embryonic arrest in female primary
            infertility
  JOURNAL   Clin Genet 104 (6), 648-658 (2023)
   PUBMED   37723834
  REMARK    GeneRIF: Identification of nonfunctional PABPC1L causing oocyte
            maturation abnormalities and early embryonic arrest in female
            primary infertility.
REFERENCE   4  (bases 1 to 2141)
  AUTHORS   Ozturk,S. and Uysal,F.
  TITLE     Poly(A)-binding proteins are required for translational regulation
            in vertebrate oocytes and early embryos
  JOURNAL   Reprod Fertil Dev 29 (10), 1890-1901 (2017)
   PUBMED   28103468
  REMARK    Review article
REFERENCE   5  (bases 1 to 2141)
  AUTHORS   Ozturk,S., Sozen,B., Uysal,F., Bassorgun,I.C., Usta,M.F.,
            Akkoyunlu,G. and Demir,N.
  TITLE     The poly(A)-binding protein genes, EPAB, PABPC1, and PABPC3 are
            differentially expressed in infertile men with non-obstructive
            azoospermia
  JOURNAL   J Assist Reprod Genet 33 (3), 335-348 (2016)
   PUBMED   26843391
  REMARK    GeneRIF: EPAB decreased expression in in infertile men with
            non-obstructive azoospermia
REFERENCE   6  (bases 1 to 2141)
  AUTHORS   Guzeloglu-Kayisli,O., Pauli,S., Demir,H., Lalioti,M.D., Sakkas,D.
            and Seli,E.
  TITLE     Identification and characterization of human embryonic poly(A)
            binding protein (EPAB)
  JOURNAL   Mol Hum Reprod 14 (10), 581-588 (2008)
   PUBMED   18716053
  REMARK    GeneRIF: Human EPAB mRNA is detected in ovaries, testes and several
            somatic tissues including pancreas, liver and thymus, and EPAB is
            the predominant poly(A) binding protein in immature (germinal
            vesicle) and mature (metaphase II) oocytes.
REFERENCE   7  (bases 1 to 2141)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 2141)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 2141)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   10 (bases 1 to 2141)
  AUTHORS   Fossey,S.C., Mychaleckyj,J.C., Pendleton,J.K., Snyder,J.R.,
            Bensen,J.T., Hirakawa,S., Rich,S.S., Freedman,B.I. and Bowden,D.W.
  TITLE     A high-resolution 6.0-megabase transcript map of the type 2
            diabetes susceptibility region on human chromosome 20
  JOURNAL   Genomics 76 (1-3), 45-57 (2001)
   PUBMED   11549316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL008725.1 and AL109839.11.
            
            Summary: This gene belongs to the polyadenylate-binding protein
            type-1 family of proteins. Members of this family bind to the polyA
            tails of mRNAs to regulate mRNA stability and translation. The
            mouse ortholog of this gene is required for female fertility. In
            human, expression of a functional protein is regulated by
            alternative splicing. The protein-coding splice variant for this
            gene is abundantly expressed in human oocytes, while a noncoding
            splice variant subject to nonsense-mediated decay is the
            predominant splice variant expressed in somatic tissues. [provided
            by RefSeq, Aug 2019].
            
            Transcript Variant: This variant (7) encodes the protein. This
            variant is abundantly expressed in human oocytes.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR18074969.1560394.1,
                                           ERR4643919.43311.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217073.7/ ENSP00000217073.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-277               AL008725.1         65189-65465
            278-471             AL008725.1         67789-67982
            472-587             AL008725.1         71885-72000
            588-727             AL008725.1         74035-74174
            728-822             AL008725.1         74312-74406
            823-960             AL008725.1         76723-76860
            961-1056            AL109839.11        109259-109354       c
            1057-1323           AL109839.11        102789-103055       c
            1324-1414           AL109839.11        101083-101173       c
            1415-1543           AL109839.11        100330-100458       c
            1544-1650           AL109839.11        98018-98124         c
            1651-1744           AL109839.11        96785-96878         c
            1745-1875           AL109839.11        95324-95454         c
            1876-1950           AL109839.11        94767-94841         c
            1951-2141           AL109839.11        94199-94389         c
FEATURES             Location/Qualifiers
     source          1..2141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..2141
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /note="poly(A) binding protein cytoplasmic 1 like"
                     /db_xref="GeneID:80336"
                     /db_xref="HGNC:HGNC:15797"
                     /db_xref="MIM:621055"
     exon            1..277
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1944
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /note="embryonic poly(A) binding protein"
                     /codon_start=1
                     /product="polyadenylate-binding protein 1-like"
                     /protein_id="NP_001359108.1"
                     /db_xref="CCDS:CCDS42878.2"
                     /db_xref="GeneID:80336"
                     /db_xref="HGNC:HGNC:15797"
                     /db_xref="MIM:621055"
                     /translation="MNASGSGYPLASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCR
                     DVATRRSLGYAYINFQQPADAERALDTMNFEMLKGQPIRIMWSQRDPGLRKSGVGNIF
                     IKNLEDSIDNKALYDTFSTFGNILSCKVACDEHGSRGFGFVHFETHEAAQQAINTMNG
                     MLLNDRKVFVGHFKSRREREAELGARALEFTNIYVKNLPVDVDEQGLQDLFSQFGKML
                     SVKVMRDNSGHSRCFGFVNFEKHEEAQKAVVHMNGKEVSGRLLYAGRAQKRVERQNEL
                     KRRFEQMKQDRLRRYQGVNLYVKNLDDSIDDDKLRKEFSPYGVITSAKVMTEGGHSKG
                     FGFVCFSSPEEATKAVTEMNGRIVGTKPLYVALAQRKEERKAILTNQYMQRLSTMRTL
                     SNPLLGSFQQPSSYFLPAMPQPPAQAAYYGCGPVTPTQPAPRWTSQPPRPSSAYPPGA
                     SMVRPPVVPRRPPAHISSVRQASTQVPRTVPHTQRVANIGTQTTGPSGVGCCTPGRPL
                     LPCKCSSAAHSTYRVQEPAVHIPGQEPLTASMLAAAPLHEQKQMIGERLYPLIHDVHT
                     QLAGKITGMLLEIDNSELLLMLESPESLHAKIDEAVAVLQAHQAMEQPKAYMH"
     exon            278..471
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            472..587
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            588..727
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            728..822
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            823..960
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1056
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1323
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1414
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1543
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1650
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1744
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1745..1875
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1876..1950
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2141
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2120..2125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /note="hexamer: ATTAAA"
     polyA_site      2141
                     /gene="PABPC1L"
                     /gene_synonym="C20orf119; dJ1069P2.3; EPAB; OZEMA22;
                     PABPC1L1"
                     /note="major polyA site"
ORIGIN      
        1 aaggagggct tccgcccggg tgagcgcggg gctgctgggt gacccggctc ctgcttgccc
       61 cgcagccccg gccccctgcc caccatgaac gccagcggtt ctggctaccc gcttgcctcg
      121 ctttacgtgg gcgatctgca ccccgacgtg accgaggcca tgctctatga gaagttctct
      181 cccgccggcc ccatcctgtc catccgcgtg tgccgcgatg tagccacccg gcgctcgctg
      241 ggctacgcct acatcaactt ccagcagccc gcggacgcgg agcgggcact ggacacaatg
      301 aactttgaga tgctcaaagg ccagcctatt cgcatcatgt ggtcccagcg agacccagga
      361 cttcgcaagt caggtgtggg caacatcttc atcaagaacc tggaggactc cattgacaac
      421 aaggctttat atgatacctt ctccaccttt gggaacatcc tctcttgcaa ggtggcgtgt
      481 gacgagcatg gctcccgggg tttcggcttt gtccattttg agacccatga ggccgcacag
      541 caggccatca acaccatgaa tgggatgctg ctgaatgacc gcaaagtctt tgtgggtcac
      601 ttcaagtctc gacgggagcg ggaggcggag ctgggggcgc gggccctgga gttcaccaac
      661 atctacgtga agaacctccc ggtggatgtg gacgagcaag gcctgcagga cctcttctcc
      721 cagtttggga aaatgctgag tgtgaaggtg atgagggaca acagcggcca ctcgcggtgc
      781 tttggctttg tcaactttga gaagcatgag gaagcccaga aggccgtggt ccatatgaac
      841 gggaaggagg tgagcgggcg gctgctgtac gcgggccggg cccaaaagcg cgtggagcgg
      901 cagaatgaac tgaagcgcag gtttgagcag atgaagcagg accggctgag gcgttaccag
      961 ggtgtgaact tgtatgtgaa gaatctggac gactccattg atgacgacaa actgaggaaa
     1021 gagttctctc cctatggagt aattaccagt gcgaaggtga tgacagaggg tggccacagc
     1081 aaggggtttg gctttgtgtg tttttcctcc ccagaagagg cgacaaaggc cgtgacagag
     1141 atgaacgggc gcatcgtggg caccaagcca ctctacgtgg cactggccca gcgcaaagag
     1201 gagcggaagg ccatcttgac caaccagtac atgcagcgcc tctccaccat gcggaccctg
     1261 agcaaccccc tcctgggctc ctttcagcag ccctccagct acttcctgcc tgccatgccc
     1321 cagcctccag cccaggctgc atactatggc tgtggcccag tgacacccac ccagcctgcc
     1381 cccaggtgga catcccagcc acctagacct tcctctgcct accctccagg tgcctcaatg
     1441 gtccggccac cagttgtgcc tcggcgcccc ccggcccaca tcagcagtgt caggcaggcc
     1501 tccacccagg tgccacgcac ggtgcctcat acccagagag tagccaacat tggtactcag
     1561 accacaggac ccagtggggt aggatgctgt acaccaggcc ggccgctcct gccgtgcaaa
     1621 tgttcctcag cagcacatag cacctatcgg gtccaggagc cggctgtgca catcccagga
     1681 caggagcccc tgaccgcgtc catgctggct gcggcgcccc tgcatgagca aaagcagatg
     1741 attggggagc gtctctaccc ccttatccat gatgtccaca cccagctggc tggcaagatc
     1801 acgggcatgc tgctggagat tgacaactca gagctgttgc tcatgctgga gtctccagaa
     1861 tccctccatg ccaagataga cgaggcagtg gccgtgctgc aggcacacca ggctatggag
     1921 cagccgaagg cgtacatgca ctgaaaccag aaaaggaaat cctcgcttcc atggctgcca
     1981 aaaggacagt gtttctggct ctcagcccta aggccctgca aactctaact tatttcccaa
     2041 ttagtctgta tctatacttg ggctctgtat gtgaatgaag gttggtcacc catccagcct
     2101 attacctttt gctttgtgta ttaaaagtgc tgcaaaatct g
//
