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2019-03-20 11:43:21, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001159694            4008 bp    mRNA    linear   PRI 09-JUN-2013
DEFINITION  Homo sapiens endomucin (EMCN), transcript variant 2, mRNA.
ACCESSION   NM_001159694
VERSION     NM_001159694.1  GI:229576884
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 4008)
  AUTHORS   Turner,S.T., Bailey,K.R., Schwartz,G.L., Chapman,A.B., Chai,H.S.
            and Boerwinkle,E.
  TITLE     Genomic association analysis identifies multiple loci influencing
            antihypertensive response to an angiotensin II receptor blocker
  JOURNAL   Hypertension 59 (6), 1204-1211 (2012)
   PUBMED   22566498
REFERENCE   2  (bases 1 to 4008)
  AUTHORS   Kanki,Y., Kohro,T., Jiang,S., Tsutsumi,S., Mimura,I., Suehiro,J.,
            Wada,Y., Ohta,Y., Ihara,S., Iwanari,H., Naito,M., Hamakubo,T.,
            Aburatani,H., Kodama,T. and Minami,T.
  TITLE     Epigenetically coordinated GATA2 binding is necessary for
            endothelium-specific endomucin expression
  JOURNAL   EMBO J. 30 (13), 2582-2595 (2011)
   PUBMED   21666600
  REMARK    GeneRIF: Knockdown of endomucin markedly attenuated endothelial
            cell growth, migration and tube formation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4008)
  AUTHORS   Nishimoto,K., Ikari,K., Kaneko,H., Tsukahara,S., Kochi,Y.,
            Yamamoto,K., Nakamura,Y., Toyama,Y., Taniguchi,A., Yamanaka,H. and
            Momohara,S.
  TITLE     Association of EMCN with susceptibility to rheumatoid arthritis in
            a Japanese population
  JOURNAL   J. Rheumatol. 38 (2), 221-228 (2011)
   PUBMED   21159824
  REMARK    GeneRIF: A significant association between EMCN and rheumatoid
            arthritis susceptibility was detected in our Japanese study
            population. The EMCN allele conferring rheumatoid arthritis
            susceptibility may also contribute to the pathogenesis of
            rheumatoid arthritis.
REFERENCE   4  (bases 1 to 4008)
  AUTHORS   Kanda,H., Tanaka,T., Matsumoto,M., Umemoto,E., Ebisuno,Y.,
            Kinoshita,M., Noda,M., Kannagi,R., Hirata,T., Murai,T., Fukuda,M.
            and Miyasaka,M.
  TITLE     Endomucin, a sialomucin expressed in high endothelial venules,
            supports L-selectin-mediated rolling
  JOURNAL   Int. Immunol. 16 (9), 1265-1274 (2004)
   PUBMED   15249540
REFERENCE   5  (bases 1 to 4008)
  AUTHORS   Kuhn,A., Brachtendorf,G., Kurth,F., Sonntag,M., Samulowitz,U.,
            Metze,D. and Vestweber,D.
  TITLE     Expression of endomucin, a novel endothelial sialomucin, in normal
            and diseased human skin
  JOURNAL   J. Invest. Dermatol. 119 (6), 1388-1393 (2002)
   PUBMED   12485444
REFERENCE   6  (bases 1 to 4008)
  AUTHORS   Samulowitz,U., Kuhn,A., Brachtendorf,G., Nawroth,R., Braun,A.,
            Bankfalvi,A., Bocker,W. and Vestweber,D.
  TITLE     Human endomucin: distribution pattern, expression on high
            endothelial venules, and decoration with the MECA-79 epitope
  JOURNAL   Am. J. Pathol. 160 (5), 1669-1681 (2002)
   PUBMED   12000719
REFERENCE   7  (bases 1 to 4008)
  AUTHORS   Liu,C., Shao,Z.M., Zhang,L., Beatty,P., Sartippour,M., Lane,T.,
            Livingston,E. and Nguyen,M.
  TITLE     Human endomucin is an endothelial marker
  JOURNAL   Biochem. Biophys. Res. Commun. 288 (1), 129-136 (2001)
   PUBMED   11594763
REFERENCE   8  (bases 1 to 4008)
  AUTHORS   Kinoshita,M., Nakamura,T., Ihara,M., Haraguchi,T., Hiraoka,Y.,
            Tashiro,K. and Noda,M.
  TITLE     Identification of human endomucin-1 and -2 as membrane-bound
            O-sialoglycoproteins with anti-adhesive activity
  JOURNAL   FEBS Lett. 499 (1-2), 121-126 (2001)
   PUBMED   11418125
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG506923.1, AK304568.1, AK291831.1, AC097459.3 and AL133118.1.
            
            Summary: EMCN is a mucin-like sialoglycoprotein that interferes
            with the assembly of focal adhesion complexes and inhibits
            interaction between cells and the extracellular matrix (Kinoshita
            et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            middle portion of the coding region compared to variant 1. This
            results in a shorter protein (isoform 2) compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304568.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025093 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                BG506923.1         2-93
            93-1330             AK304568.1         3-1240
            1331-1450           AK291831.1         1031-1150
            1451-3243           AC097459.3         25700-27492         c
            3244-4008           AL133118.1         1482-2246
FEATURES             Location/Qualifiers
     source          1..4008
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..4008
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /note="endomucin"
                     /db_xref="GeneID:51705"
                     /db_xref="HGNC:16041"
                     /db_xref="MIM:608350"
     exon            1..243
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     CDS             180..926
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; endomucin-2; MUC-14; mucin-14; gastric cancer
                     antigen Ga34"
                     /codon_start=1
                     /product="endomucin isoform 2 precursor"
                     /protein_id="NP_001153166.1"
                     /db_xref="GI:229576885"
                     /db_xref="CCDS:CCDS54782.1"
                     /db_xref="GeneID:51705"
                     /db_xref="HGNC:16041"
                     /db_xref="MIM:608350"
                     /translation="
MELLQVTILFLLPSICSSNSTGVLEAANNSLVVTTTKPSITTPNTESLQKNVVTPTTGTTPKGTITNELLKMSLMSTATFLTSKDEGLKATTTDVRKNDSIISNVTVTSVTLPNAVSTLQSSKPKSSVLQPDASPSKTGTLTSIPVTIPENTSQSQVIGTEGGKNASTSATSRSYSSIILPVVIALIVITLSVFVLVGLYRMCWKADPGTPENGNDQPQSDKESVKLLTVKTISHESGEHSAQGKTKN
"
     misc_feature    180..923
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /note="Endomucin; Region: Endomucin; pfam07010"
                     /db_xref="CDD:115650"
     sig_peptide     180..233
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     exon            244..366
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     variation       266
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11538887"
     variation       271
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /replace=""
                     /replace="ttg"
                     /db_xref="dbSNP:16344"
     exon            367..438
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     exon            439..555
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     exon            556..648
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     variation       565
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11538886"
     exon            649..708
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     exon            709..804
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     exon            805..829
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     exon            830..891
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     exon            892..965
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     exon            966..3998
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /inference="alignment:Splign:1.39.8"
     variation       1097
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1025507"
     STS             1165..1408
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="SHGC-50369"
                     /db_xref="UniSTS:17269"
     STS             1246..1399
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="SHGC-59859"
                     /db_xref="UniSTS:57961"
     STS             1300..1410
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="A009Z43"
                     /db_xref="UniSTS:60865"
     STS             1300..1410
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="G33030"
                     /db_xref="UniSTS:117607"
     variation       1331
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4071"
     STS             1384..1486
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="SHGC-36015"
                     /db_xref="UniSTS:63440"
     variation       1644
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1025508"
     variation       1859
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1368524"
     STS             2228..2377
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="SHGC-24789"
                     /db_xref="UniSTS:30738"
     STS             2278..2377
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="SHGC-50547"
                     /db_xref="UniSTS:30739"
     STS             2655..2723
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="D1S1423"
                     /db_xref="UniSTS:149619"
     STS             3547..3666
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="RH98916"
                     /db_xref="UniSTS:88312"
     STS             3802..3988
                     /gene="EMCN"
                     /gene_synonym="EMCN2; MUC14"
                     /standard_name="STS-N22495"
                     /db_xref="UniSTS:21247"
ORIGIN      
gggagtgtgtgtatttcctcccgttctttatcagagcccccaaaataagtaggaatgggcagtggctattcacattcactacaccttttccatttgctaataaggccctgccaggctgggagggaattgtccctgcctgcttctggagaaagaagatattgacaccatctacgggcaccatggaactgcttcaagtgaccattctttttcttctgcccagtatttgcagcagtaacagcacaggtgttttagaggcagctaataattcacttgttgttactacaacaaaaccatctataacaacaccaaacacagaatcattacagaaaaatgttgtcacaccaacaactggaacaactcctaaaggaacaatcaccaatgaattacttaaaatgtctctgatgtcaacagctacttttttaacaagtaaagatgaaggattgaaagccacaaccactgatgtcaggaagaatgactccatcatttcaaacgtaacagtaacaagtgttacacttccaaatgctgtttcaacattacaaagttccaaacccaagagtagtgttctacaaccagatgcatcaccttctaaaactggtacattaacctcaataccagttacaattccagaaaacacctcacagtctcaagtaataggcactgagggtggaaaaaatgcaagcacttcagcaaccagccggtcttattccagtattattttgccggtggttattgctttgattgtaataacactttcagtatttgttctggtgggtttgtaccgaatgtgctggaaggcagatccgggcacaccagaaaatggaaatgatcaacctcagtctgataaagagagcgtgaagcttcttaccgttaagacaatttctcatgagtctggtgagcactctgcacaaggaaaaaccaagaactgacagcttgaggaattctctccacacctaggcaataattacgcttaatcttcagcttctatgcaccaagcgtggaaaaggagaaagtcctgcagaatcaatcccgacttccatacctgctgctggactgtaccagacgtctgtcccagtaaagtgatgtccagctgacatgcaataatttgatggaatcaaaaagaaccccggggctctcctgttctctcacatttaaaaattccattactccatttacaggagcgttcctaggaaaaggaattttaggaggagaatttgtgagcagtgaatctgacagcccaggaggtgggctcgctgataggcatgactttccttaatgtttaaagttttccgggccaagaatttttatccatgaagactttcctacttttctcagtgttcttatattacctactgttagtatttattgtttaccactatgttaatgcagggaaaagttgcacgtgtattattaaatattaggtagaaatcataccatgctactttgtacatataagtattttattcctgctttcgtgttacttttaataaataactactgtactcaatactctaaaaatactataacatgactgtgaaaatggcaatgttattgtcttcctataattatgaatatttttggatggattattagaatacatgaactcactaatgaaaggcatttgtaataagtcagaaagggacatacgattcacatatcagactgttagggggagagtaatttatcagttctttggtctttctatttgtcattcatactatgtgatgaagatgtaagtgcaagggcatttataacactatactgcattcattaagataataggatcatgatttttcattaactcatttgattgatattatctccatgcattttttatttcttttagaaatgtaattatttgctctagcaatcattgctaacctctagtttgtagaaaatcaacactttataaatacataattatgatattatttttcattgtatcactgttctaaaaataccatatgattatagctgccactccatcaggagcaaattcttctgttaaaagctaactgatcaaccttgaccacttttttgacatgtgagatcaaagtgtcaagttggctgaggttttttggaaagctttagaactaataagctgctggtggcagctttgtaacgtatgattatctaagctgattttgatgctaaattatcttagtgatctaaggggcagtttagtgaagatggaatcttgtatttaaaatagccttttaaaatttgttttgtggtgatgtattttgacaacttccatctttaggagttatataatcaccttgattttagtttcctgatgtttggactatttataatcaaggacaccaagcaagcataagcatatctatatttctgactggtgtctctttgagaaggatgggaagtagaaaaaaaaaaaagaaagaaaggaaaggaagagaggagagaagaaggcagggatctccactatgtatgttttcactttagaactgttgagcccatgcttaattttaatctagaagtctttaaatggtgagacagtgactggagcatgccaatcagagagcatttgtcttcagaaaaaaaaaaaatctgagtttgagactagcctggccaacatgttgaaaccccatatctactaaaaatacaaaaattagcctggtgtggtggcgcacgcctgtagtcccagctactctggagcctgaggaacgtgaatcgcttgaacccagaagacagaggttgcagtgagctgagatggcactattgcactccagcctgggtgacacagcaagactctgtctcaaaaaaaaaaaaaaaaaaaaggaaaaaaaagaaagaaagaaagtcccagcacacctagataatttaccgagctcttcagcaaaaaccatgttacatacagcatattccaaagaaatgaactcttctgcaatttaaattataagtaatatgttattttggatcctagagaaaccattttctctacatttcatgagcatggttagaaaagagtttacaagaattaggaagagggaacaattttaatggtcagaaaagaataaaatttattctagttcaagaagtgcacacaaagaatatgcattaatctaacaactatgagattaaatctttcaaaaaggtcaaaggaggattgagaagtttacagagatgtccacggcattttatatcaatctcaaaggtaaggtctgcatttttataaaccaacttaaacttctgttgagataggatattttgttttcaagccaaaattaccattaatcaaatatgttttaattatctgatttagatgatctactttttatgcctggcttactgtaagttttttattctgatacacagttcaaacatcattgcaacaaagaagtgcctgtatttagatcaaaggcaagactttctatgtgtttgttttgcataataatatgaatataatttaagtctatcaatagtcaaaacataaacaaaagctaattaactggcactgttgtcacctgagactaagtggatgttgttggctgacatacaggctcagccagcagagaaagaattctgaattccccttgctgaactgaactattctgttacatatggttgacaaatctgtgtgttatttcttttctacctaccatatttaaatttatgagtatcaaccgaggacatagtcaaaccttcgatgatgaacattcctgattttttgcctgattattctctgttgagctctacttgtggtcattcaagattttatgatgttgaaaggaaaagtgaatatgacctttaaaaattgtattttgggtgatgatagtctcaccactataaaactgtcaattattgcctaatgttaaagatatccatcattgtgattaattaaacctataatgagtattcttaatggagaattcttaatggatggattatcccctgatcttttctttaaaatttctctgcacacacaggacttctcattttccaataaatgggtgtactctgccccaatttctagggaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:51705 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
            GeneID:51705 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:51705 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

by @meso_cacase at DBCLS
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