GGRNA | NM_001272083.1

LOCUS       NM_001272083            2216 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), transcript
            variant 7, mRNA.
ACCESSION   NM_001272083
VERSION     NM_001272083.1  GI:441418808
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 2216)
  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 2216)
  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 2216)
  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 2216)
  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 2216)
  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, AL117413.1 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 (7) contains an alternate 5'
            terminal exon, initiates translation at an alternate start codon,
            and differs at the 3' end compared to variant 1. The encoded
            isoform (e) has distinct N- and C- termini and is shorter than
            isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL117413.1, BM799662.1 [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
            1-230               DA046900.1         1-230
            231-2138            AL117413.1         2-1909
            2139-2216           AF520698.1         2089-2166
FEATURES             Location/Qualifiers
     source          1..2216
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..2216
                     /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..676
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /note="isoform e is encoded by transcript variant 7;
                     putative NF-kappa-B-activating protein 120"
                     /codon_start=1
                     /product="protein shisa-5 isoform e"
                     /protein_id="NP_001259012.1"
                     /db_xref="GI:441418809"
                     /db_xref="GeneID:51246"
                     /db_xref="HGNC:30376"
                     /db_xref="MIM:607290"
                     /translation="

MGFGATLAVGLTIFVLSVVTIIICFTCSCCCLYKTCRRPRPVVTTTTSTTVVHAPYPQPPSVPPSYPGPSYQGYHTMPPQPGMPAAPYPMQYPPPYPAQPMGPPAYHETLAGECPCQL

"
     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..2216
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /inference="alignment:Splign:1.39.8"
     variation       1843
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1046093"
     variation       1967
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1062992"
     polyA_signal    2119..2124
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
     polyA_site      2138
                     /gene="SHISA5"
                     /gene_synonym="SCOTIN"
                     /note="The 3' most polyA site has not been determined.
                     This is the predominant polyA site."
ORIGIN

gcattctgaggtcaggccctgtaggcttggctcagggaggcagctctgggaggcaaatggggcacctctgcttcccctcctccccggcccccgccccttggctccttggctgctagccggctgctgggcggggccatcctgtgtctttaagagggtggaacggggcttcgcgtctgtgcttcctgtggctgacgtcatctggaggagatttgctttctttttctccaaaaggggaggaaattgaaactgagtggcccacgatgggaagaggggaaagcccaggggtacaggaggcctctgggtgaaggcagaggctaacatggggttcggagcgaccttggccgttggcctgaccatctttgtgctgtctgtcgtcactatcatcatctgcttcacctgctcctgctgctgcctttacaagacgtgccgccgaccacgtccggttgtcaccaccaccacatccaccactgtggtgcatgccccttatcctcagcctccaagtgtgccgcccagctaccctggaccaagctaccagggctaccacaccatgccgcctcagccagggatgccagcagcaccctacccaatgcagtacccaccaccttacccagcccagcccatgggcccaccggcctaccacgagaccctggctggtgagtgcccctgccaactctagccctgcccgacttcccgagtctctgccagcatccctcgggcacccatcccaaactacatcactcaacaggcctctgcccctttctgcttgcctgccactcacacggcagcccaccatgctcacagccaaccagggtcctctctgctttcaggaggagcagccgcgccctaccccgccagccagcctccttacaacccggcctacatggatgccccgaaggcggccctctgagcattccctggcctctctggctgccacttggttatgttgtgtgtgtgcgtgagtggtgtgcaggcgcggttccttacgccccatgtgtgctgtgtgtgtccaggcacggttccttacgccccatgtgtgctgtgtgtgtcctgcctgtatatgtggcttcctctgatgctgacaaggtggggaacaatccttgccagagtgggctgggaccagactttgttctcttcctcacctgaaattatgcttcctaaaatctcaagccaaactcaaagaatggggtggtggggggcaccctgtgaggtggcccctgagaggtgggggcctctccagggcacatctggagttcttctccagcttaccctagggtgaccaagtagggcctgtcacaccagggtggcgcagctttctgtgtgatgcagatgtgtcctggtttcggcagcgtagccagctgctgcttgaggccatggctcgtccccggagttgggggtacccgttgcagagccagggacatgatgcaggcgaagcttgggatctggccaagttggactttgatcctttgggcagatgtcccattgctccctggagcctgtcatgcctgttggggatcaggcagcctcctgatgccagaacacctcaggcagagccctactcagctgtacctgtctgcctggactgtcccctgtccccgcatctcccctgggaccagctggagggccacatgcacacacagcctagctgcccccagggagctctgctgcccttgctggccctgcccttcccacaggtgagcagggctcctgtccaccagcacactcagttctcttccctgcagtgttttcattttattttagccaaacattttgcctgttttctgtttcaaacatgatagttgatatgagactgaaacccctgggttgtggagggaaattggctcagagatggacaacctggcaactgtgagtccctgcttcccgacaccagcctcatggaatatgcaacaactcctgtaccccagtccacggtgttctggcagcagggacacctgggccaatgggccatctggaccaaaggtggggtgtggggccctggatggcagctctggcccagacatgaatacctcgtgttcctcctccctctattactgtttcaccagagctgtcttagctcaaatctgttgtgtttctgagtctagggtctgtacacttgtttataataaatgcaatcgtttggagctgctgccccctttcttcctggcctcggctgctggaattggaatcaggctgtactctttccatccatttgggcttct

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