2025-05-09 17:06:55, 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
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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
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