GGRNA | NM_001272082.1

LOCUS       NM_001272082            2042 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), transcript
            variant 6, mRNA.
ACCESSION   NM_001272082
VERSION     NM_001272082.1  GI:441418797
KEYWORDS    RefSeq.
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 2042)
  AUTHORS   So,H.C., Fong,P.Y., Chen,R.Y., Hui,T.C., Ng,M.Y., Cherny,S.S.,
            Mak,W.W., Cheung,E.F., Chan,R.C., Chen,E.Y., Li,T. and Sham,P.C.
  TITLE     Identification of neuroglycan C and interacting partners as
            potential susceptibility genes for schizophrenia in a Southern
            Chinese population
  JOURNAL   Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (1), 103-113
            (2010)
   PUBMED   19367581
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   2  (bases 1 to 2042)
  AUTHORS   Draeby,I., Woods,Y.L., la Cour,J.M., Mollerup,J., Bourdon,J.C. and
            Berchtold,M.W.
  TITLE     The calcium binding protein ALG-2 binds and stabilizes Scotin, a
            p53-inducible gene product localized at the endoplasmic reticulum
            membrane
  JOURNAL   Arch. Biochem. Biophys. 467 (1), 87-94 (2007)
   PUBMED   17889823
  REMARK    GeneRIF: ALG-2 binding to Scotin is strictly calcium dependent,
            indicating a role of this interaction in calcium signaling pathways
REFERENCE   3  (bases 1 to 2042)
  AUTHORS   Ludes-Meyers,J.H., Kil,H., Bednarek,A.K., Drake,J., Bedford,M.T.
            and Aldaz,C.M.
  TITLE     WWOX binds the specific proline-rich ligand PPXY: identification of
            candidate interacting proteins
  JOURNAL   Oncogene 23 (29), 5049-5055 (2004)
   PUBMED   15064722
REFERENCE   4  (bases 1 to 2042)
  AUTHORS   Matsuda,A., Suzuki,Y., Honda,G., Muramatsu,S., Matsuzaki,O.,
            Nagano,Y., Doi,T., Shimotohno,K., Harada,T., Nishida,E., Hayashi,H.
            and Sugano,S.
  TITLE     Large-scale identification and characterization of human genes that
            activate NF-kappaB and MAPK signaling pathways
  JOURNAL   Oncogene 22 (21), 3307-3318 (2003)
   PUBMED   12761501
REFERENCE   5  (bases 1 to 2042)
  AUTHORS   Bourdon,J.C., Renzing,J., Robertson,P.L., Fernandes,K.N. and
            Lane,D.P.
  TITLE     Scotin, a novel p53-inducible proapoptotic protein located in the
            ER and the nuclear membrane
  JOURNAL   J. Cell Biol. 158 (2), 235-246 (2002)
   PUBMED   12135983
  REMARK    GeneRIF: Scotin plays a role in p53-dependent apoptosis
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA046900.1, BC001463.2,
            AL832568.1, AI718508.1 and AF520698.1.
            
            Summary: This gene encodes a member of the shisa family. The
            encoded protein is localized to the endoplasmic reticulum, and
            together with p53 induces apoptosis in a caspase-dependent manner.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (6) contains an alternate 5'
            terminal exon, lacks a portion of the 5' coding region, and
            initiates translation at an alternate start codon, compared to
            variant 1. The encoded isoform (d) has a distinct N-terminus and is
            shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA046900.1, BC001463.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-184               DA046900.1         1-184
            185-275             BC001463.2         1-91
            276-1964            AL832568.1         83-1771
            1965-2008           AI718508.1         1-44                c
            2009-2042           AF520698.1         2133-2166
FEATURES             Location/Qualifiers
     source          1..2042
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..2042
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /note="shisa homolog 5 (Xenopus laevis)"
                     /db_xref="GeneID:51246"
                     /db_xref="HGNC:30376"
                     /db_xref="MIM:607290"
     exon            1..324
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    248..250
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /note="upstream in-frame stop codon"
     variation       284
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11544094"
     CDS             320..733
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /note="isoform d is encoded by transcript variant 6;
                     putative NF-kappa-B-activating protein 120"
                     /codon_start=1
                     /product="protein shisa-5 isoform d"
                     /protein_id="NP_001259011.1"
                     /db_xref="GI:441418798"
                     /db_xref="GeneID:51246"
                     /db_xref="HGNC:30376"
                     /db_xref="MIM:607290"
                     /translation="

MGFGATLAVGLTIFVLSVVTIIICFTCSCCCLYKTCRRPRPVVTTTTSTTVVHAPYPQPPSVPPSYPGPSYQGYHTMPPQPGMPAAPYPMQYPPPYPAQPMGPPAYHETLAGGAAAPYPASQPPYNPAYMDAPKAAL

"
     misc_feature    <323..>442
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /note="Wnt and FGF inhibitory regulator; Region: Shisa;
                     pfam13908"
                     /db_xref="CDD:206079"
     exon            325..440
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /inference="alignment:Splign:1.39.8"
     exon            441..653
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /inference="alignment:Splign:1.39.8"
     exon            654..2042
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /inference="alignment:Splign:1.39.8"
     variation       1669
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1046093"
     variation       1793
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1062992"
     polyA_signal    1945..1950
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
     polyA_site      1964
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /note="The 3' most polyA site has not been determined.
                     This is the predominant polyA site."
ORIGIN

gcattctgaggtcaggccctgtaggcttggctcagggaggcagctctgggaggcaaatggggcacctctgcttcccctcctccccggcccccgccccttggctccttggctgctagccggctgctgggcggggccatcctgtgtctttaagagggtggaacggggcttcgcgtctgtgcttcctgtggctgacgtcatctggaggagatttgctttctttttctccaaaaggggaggaaattgaaactgagtggcccacgatgggaagaggggaaagcccaggggtacaggaggcctctgggtgaaggcagaggctaacatggggttcggagcgaccttggccgttggcctgaccatctttgtgctgtctgtcgtcactatcatcatctgcttcacctgctcctgctgctgcctttacaagacgtgccgccgaccacgtccggttgtcaccaccaccacatccaccactgtggtgcatgccccttatcctcagcctccaagtgtgccgcccagctaccctggaccaagctaccagggctaccacaccatgccgcctcagccagggatgccagcagcaccctacccaatgcagtacccaccaccttacccagcccagcccatgggcccaccggcctaccacgagaccctggctggaggagcagccgcgccctaccccgccagccagcctccttacaacccggcctacatggatgccccgaaggcggccctctgagcattccctggcctctctggctgccacttggttatgttgtgtgtgtgcgtgagtggtgtgcaggcgcggttccttacgccccatgtgtgctgtgtgtgtccaggcacggttccttacgccccatgtgtgctgtgtgtgtcctgcctgtatatgtggcttcctctgatgctgacaaggtggggaacaatccttgccagagtgggctgggaccagactttgttctcttcctcacctgaaattatgcttcctaaaatctcaagccaaactcaaagaatggggtggtggggggcaccctgtgaggtggcccctgagaggtgggggcctctccagggcacatctggagttcttctccagcttaccctagggtgaccaagtagggcctgtcacaccagggtggcgcagctttctgtgtgatgcagatgtgtcctggtttcggcagcgtagccagctgctgcttgaggccatggctcgtccccggagttgggggtacccgttgcagagccagggacatgatgcaggcgaagcttgggatctggccaagttggactttgatcctttgggcagatgtcccattgctccctggagcctgtcatgcctgttggggatcaggcagcctcctgatgccagaacacctcaggcagagccctactcagctgtacctgtctgcctggactgtcccctgtccccgcatctcccctgggaccagctggagggccacatgcacacacagcctagctgcccccagggagctctgctgcccttgctggccctgcccttcccacaggtgagcagggctcctgtccaccagcacactcagttctcttccctgcagtgttttcattttattttagccaaacattttgcctgttttctgtttcaaacatgatagttgatatgagactgaaacccctgggttgtggagggaaattggctcagagatggacaacctggcaactgtgagtccctgcttcccgacaccagcctcatggaatatgcaacaactcctgtaccccagtccacggtgttctggcagcagggacacctgggccaatgggccatctggaccaaaggtggggtgtggggccctggatggcagctctggcccagacatgaatacctcgtgttcctcctccctctattactgtttcaccagagctgtcttagctcaaatctgttgtgtttctgagtctagggtctgtacacttgtttataataaatgcaatcgtttggagctgctgccccctttcttcctggcctcggctgctggaattggaatcaggctgtactctttccatccatttgggcttct

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