GGRNA | NM_001206954.1

LOCUS       NM_001206954            1321 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens advanced glycosylation end product-specific receptor
            (AGER), transcript variant 8, mRNA.
ACCESSION   NM_001206954
VERSION     NM_001206954.1  GI:332800984
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 1321)
  AUTHORS   Tang,S.C., Wang,Y.C., Li,Y.I., Lin,H.C., Manzanero,S., Hsieh,Y.H.,
            Phipps,S., Hu,C.J., Chiou,H.Y., Huang,Y.S., Yang,W.S.,
            Mattson,M.P., Arumugam,T.V. and Jeng,J.S.
  TITLE     Functional role of soluble receptor for advanced glycation end
            products in stroke
  JOURNAL   Arterioscler. Thromb. Vasc. Biol. 33 (3), 585-594 (2013)
   PUBMED   23288172
  REMARK    GeneRIF: Early poststroke plasma sRAGE may play a protective role
            in ischemic stroke by capturing HMGB1.
REFERENCE   2  (bases 1 to 1321)
  AUTHORS   Djerbi,N., Dziunycz,P.J., Reinhardt,D., Iotzova-Weiss,G.,
            Hafner,J., Lauchli,S., French,L.E. and Hofbauer,G.F.
  TITLE     Influence of cyclosporin and prednisolone on RAGE, S100A8/A9, and
            NFkappaB expression in human keratinocytes
  JOURNAL   JAMA Dermatol 149 (2), 236-237 (2013)
   PUBMED   23426492
  REMARK    GeneRIF: The influence of immunosuppressive drugs on S100A8/A9-RAGE
            mRNA expression may suggest a role of these proteins in early-stage
            SCC development in immunosuppressed patients
REFERENCE   3  (bases 1 to 1321)
  AUTHORS   Wei,W., Lampe,L., Park,S., Vangara,B.S., Waldo,G.S., Cabantous,S.,
            Subaran,S.S., Yang,D., Lakatta,E.G. and Lin,L.
  TITLE     Disulfide bonds within the C2 domain of RAGE play key roles in its
            dimerization and biogenesis
  JOURNAL   PLoS ONE 7 (12), E50736 (2012)
   PUBMED   23284645
  REMARK    GeneRIF: RAGE intermolecular disulfide bond
REFERENCE   4  (bases 1 to 1321)
  AUTHORS   Hancock,D.B., Artigas,M.S., Gharib,S.A., Henry,A., Manichaikul,A.,
            Ramasamy,A., Loth,D.W., Imboden,M., Koch,B., McArdle,W.L.,
            Smith,A.V., Smolonska,J., Sood,A., Tang,W., Wilk,J.B., Zhai,G.,
            Zhao,J.H., Aschard,H., Burkart,K.M., Curjuric,I., Eijgelsheim,M.,
            Elliott,P., Gu,X., Harris,T.B., Janson,C., Homuth,G., Hysi,P.G.,
            Liu,J.Z., Loehr,L.R., Lohman,K., Loos,R.J., Manning,A.K.,
            Marciante,K.D., Obeidat,M., Postma,D.S., Aldrich,M.C.,
            Brusselle,G.G., Chen,T.H., Eiriksdottir,G., Franceschini,N.,
            Heinrich,J., Rotter,J.I., Wijmenga,C., Williams,O.D., Bentley,A.R.,
            Hofman,A., Laurie,C.C., Lumley,T., Morrison,A.C., Joubert,B.R.,
            Rivadeneira,F., Couper,D.J., Kritchevsky,S.B., Liu,Y., Wjst,M.,
            Wain,L.V., Vonk,J.M., Uitterlinden,A.G., Rochat,T., Rich,S.S.,
            Psaty,B.M., O'Connor,G.T., North,K.E., Mirel,D.B., Meibohm,B.,
            Launer,L.J., Khaw,K.T., Hartikainen,A.L., Hammond,C.J., Glaser,S.,
            Marchini,J., Kraft,P., Wareham,N.J., Volzke,H., Stricker,B.H.,
            Spector,T.D., Probst-Hensch,N.M., Jarvis,D., Jarvelin,M.R.,
            Heckbert,S.R., Gudnason,V., Boezen,H.M., Barr,R.G., Cassano,P.A.,
            Strachan,D.P., Fornage,M., Hall,I.P., Dupuis,J., Tobin,M.D. and
            London,S.J.
  TITLE     Genome-wide joint meta-analysis of SNP and SNP-by-smoking
            interaction identifies novel loci for pulmonary function
  JOURNAL   PLoS Genet. 8 (12), E1003098 (2012)
   PUBMED   23284291
REFERENCE   5  (bases 1 to 1321)
  AUTHORS   Hudson,B.I., Carter,A.M., Harja,E., Kalea,A.Z., Arriero,M.,
            Yang,H., Grant,P.J. and Schmidt,A.M.
  TITLE     Identification, classification, and expression of RAGE gene splice
            variants
  JOURNAL   FASEB J. 22 (5), 1572-1580 (2008)
   PUBMED   18089847
  REMARK    GeneRIF: RAGE_v1 variant is the primary secreted soluble isoform of
            RAGE. identification of functional splice variants of RAGE
            underscores biological diversity of the RAGE gene & will aid in
            understanding of the gene in the normal & pathological state.
REFERENCE   6  (bases 1 to 1321)
  AUTHORS   Nozaki,I., Watanabe,T., Kawaguchi,M., Akatsu,H., Tsuneyama,K.,
            Yamamoto,Y., Ohe,K., Yonekura,H., Yamada,M. and Yamamoto,H.
  TITLE     Reduced expression of endogenous secretory receptor for advanced
            glycation endproducts in hippocampal neurons of Alzheimer's disease
            brains
  JOURNAL   Arch. Histol. Cytol. 70 (5), 279-290 (2007)
   PUBMED   18431028
  REMARK    GeneRIF: low expression of endogenous secretory RAGE in the
            hippocampus would be associated with the development of Alzheimer's
            disease
REFERENCE   7  (bases 1 to 1321)
  AUTHORS   Ritthaler,U., Deng,Y., Zhang,Y., Greten,J., Abel,M., Sido,B.,
            Allenberg,J., Otto,G., Roth,H., Bierhaus,A. et al.
  TITLE     Expression of receptors for advanced glycation end products in
            peripheral occlusive vascular disease
  JOURNAL   Am. J. Pathol. 146 (3), 688-694 (1995)
   PUBMED   7887450
REFERENCE   8  (bases 1 to 1321)
  AUTHORS   Vissing,H., Aagaard,L., Tommerup,N. and Boel,E.
  TITLE     Localization of the human gene for advanced glycosylation end
            product-specific receptor (AGER) to chromosome 6p21.3
  JOURNAL   Genomics 24 (3), 606-608 (1994)
   PUBMED   7713518
REFERENCE   9  (bases 1 to 1321)
  AUTHORS   Sugaya,K., Fukagawa,T., Matsumoto,K., Mita,K., Takahashi,E.,
            Ando,A., Inoko,H. and Ikemura,T.
  TITLE     Three genes in the human MHC class III region near the junction
            with the class II: gene for receptor of advanced glycosylation end
            products, PBX2 homeobox gene and a notch homolog, human counterpart
            of mouse mammary tumor gene int-3
  JOURNAL   Genomics 23 (2), 408-419 (1994)
   PUBMED   7835890
REFERENCE   10 (bases 1 to 1321)
  AUTHORS   Neeper,M., Schmidt,A.M., Brett,J., Yan,S.D., Wang,F., Pan,Y.C.,
            Elliston,K., Stern,D. and Shaw,A.
  TITLE     Cloning and expression of a cell surface receptor for advanced
            glycosylation end products of proteins
  JOURNAL   J. Biol. Chem. 267 (21), 14998-15004 (1992)
   PUBMED   1378843
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK298100.1, EU117141.1 and
            BM971899.1.
            
            Summary: The advanced glycosylation end product (AGE) receptor
            encoded by this gene is a member of the immunoglobulin superfamily
            of cell surface receptors. It is a multiligand receptor, and
            besides AGE, interacts with other molecules implicated in
            homeostasis, development, and inflammation, and certain diseases,
            such as diabetes and Alzheimer's disease. Many alternatively
            spliced transcript variants encoding different isoforms, as well as
            non-protein-coding variants, have been described for this gene
            (PMID:18089847). [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (8, also known as RAGE_v8) lacks
            two internal coding exons, and uses an alternate donor splice site
            at another coding exon compared to variant 1. This results in a
            frame-shift, and a shorter isoform (8) with a distinct C-terminus
            compared to isoform 1.
            
            Sequence Note: This Refseq, containing two in-frame translation
            initiation codons (at nt 8-10 and nt 101-103), is annotated with a
            CDS starting from the downstream AUG (dAUG) because the AGE
            receptor encoded by this gene is a known type 1 transmembrane
            protein requiring signal peptide for its function, and a signal
            peptide of 22 aa is predicted for the dAUG initiated protein.
            Translation initiation from the upstream AUG (uAUG) will add an
            extra 31 aa to the N-terminus, and no signal peptide is predicted
            for the uAUG initiated protein.
            
            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 :: EU117141.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-922               AK298100.1         3-924
            923-1149            EU117141.1         833-1059
            1150-1301           AK298100.1         1339-1490
            1302-1321           BM971899.1         1-20                c
FEATURES             Location/Qualifiers
     source          1..1321
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..1321
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /note="advanced glycosylation end product-specific
                     receptor"
                     /db_xref="GeneID:177"
                     /db_xref="HGNC:320"
                     /db_xref="MIM:600214"
     exon            1..152
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    2..4
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /note="upstream in-frame stop codon"
     misc_feature    8..10
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /note="alternative translation initiation codon"
     CDS             101..1078
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /note="isoform 8 precursor is encoded by transcript
                     variant 8; RAGE isoform sRAGE-delta; RAGE isoform
                     NtRAGE-delta"
                     /codon_start=1
                     /product="advanced glycosylation end product-specific
                     receptor isoform 8 precursor"
                     /protein_id="NP_001193883.1"
                     /db_xref="GI:332800985"
                     /db_xref="GeneID:177"
                     /db_xref="HGNC:320"
                     /db_xref="MIM:600214"
                     /translation="

MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSVARVLPNGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLDGKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQLVVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDNQARRGQLQVRGLIKSGKQKIAPNTCDWGDGQQERNGRPQKTRRKRRSVQN

"
     sig_peptide     101..166
                     /gene="AGER"
                     /gene_synonym="RAGE"
     mat_peptide     167..1075
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /product="advanced glycosylation end product-specific
                     receptor isoform 8"
     misc_feature    200..433
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /note="Immunoglobulin domain; Region: Ig; cd00096"
                     /db_xref="CDD:143165"
     misc_feature    470..757
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /note="CD80-like C2-set immunoglobulin domain; Region:
                     C2-set_2; pfam08205"
                     /db_xref="CDD:203874"
     misc_feature    851..>928
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /note="Immunoglobulin C-2 Type; Region: IGc2; smart00408"
                     /db_xref="CDD:197706"
     variation       106
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1800684"
     exon            153..259
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     variation       183
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:17846804"
     exon            260..455
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     STS             282..483
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /standard_name="MARC_10431-10432:999637141:1"
                     /db_xref="UniSTS:267139"
     variation       344
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2070600"
     STS             364..825
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /standard_name="PMC162222P2"
                     /db_xref="UniSTS:271464"
     variation       441
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17846806"
     exon            456..520
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     exon            521..608
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     STS             584..823
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /standard_name="PMC203021P1"
                     /db_xref="UniSTS:271895"
     exon            609..791
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     exon            792..922
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     variation       821
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:17846799"
     exon            923..1031
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     exon            1032..1303
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /inference="alignment:Splign:1.39.8"
     STS             1129..1303
                     /gene="AGER"
                     /gene_synonym="RAGE"
                     /standard_name="D6S1871"
                     /db_xref="UniSTS:54378"
     polyA_signal    1281..1286
                     /gene="AGER"
                     /gene_synonym="RAGE"
     polyA_site      1303
                     /gene="AGER"
                     /gene_synonym="RAGE"
ORIGIN

ctgaaagatgggggctggagagagggtgcaggccccacctagggcggaggccacagcagggagaggggcagacagagccaggaccctggaaggaagcaggatggcagccggaacagcagttggagcctgggtgctggtcctcagtctgtggggggcagtagtaggtgctcaaaacatcacagcccggattggcgagccactggtgctgaagtgtaagggggcccccaagaaaccaccccagcggctggaatggaaactgaacacaggccggacagaagcttggaaggtcctgtctccccagggaggaggcccctgggacagtgtggctcgtgtccttcccaacggctccctcttccttccggctgtcgggatccaggatgaggggattttccggtgccaggcaatgaacaggaatggaaaggagaccaagtccaactaccgagtccgtgtctaccagattcctgggaagccagaaattgtagattctgcctctgaactcacggctggtgttcccaataaggtggggacatgtgtgtcagagggaagctaccctgcagggactcttagctggcacttggatgggaagcccctggtgcctaatgagaagggagtatctgtgaaggaacagaccaggagacaccctgagacagggctcttcacactgcagtcggagctaatggtgaccccagcccggggaggagatccccgtcccaccttctcctgtagcttcagcccaggccttccccgacaccgggccttgcgcacagcccccatccagccccgtgtctgggagcctgtgcctctggaggaggtccaattggtggtggagccagaaggtggagcagtagctcctggtggaaccgtaaccctgacctgtgaagtccctgcccagccctctcctcaaatccactggatgaaggataaccaggcgaggaggggccaactgcaggtgaggggtttgataaagtcagggaagcagaagatagcccccaacacatgtgactggggggatggtcaacaagaaaggaatggaaggccccagaaaaccaggaggaagaggaggagcgtgcagaactgaatcagtcggaggaacctgaggcaggcgagagtagtactggagggccttgaggggcccacagacagatcccatccatcagctcccttttctttttcccttgaactgttctggcctcagaccaactctctcctgtataatctctctcctgtataaccccaccttgccaagctttcttctacaaccagagccccccacaatgatgattaaacacctgacacatcttgcaaaaaaaaaaaaaaaaaa

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