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2025-05-09 17:28:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016242 4047 bp mRNA linear PRI 09-JUN-2013
DEFINITION Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.
ACCESSION NM_016242
VERSION NM_016242.3 GI:229576879
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 4047)
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 4047)
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 4047)
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 4047)
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 4047)
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 4047)
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 4047)
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 4047)
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, AK313504.1, AK291831.1, AC097459.3 and AL133118.1.
On May 7, 2009 this sequence version replaced gi:20070283.
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 (1) represents the longer
transcript and encodes the longer 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 :: AF205940.1, AK026875.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-71 BG506923.1 2-72
72-965 AK313504.1 1-894
966-1489 AK291831.1 627-1150
1490-3282 AC097459.3 25700-27492 c
3283-4047 AL133118.1 1482-2246
FEATURES Location/Qualifiers
source 1..4047
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q24"
gene 1..4047
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/note="endomucin"
/db_xref="GeneID:51705"
/db_xref="HGNC:16041"
/db_xref="HPRD:12220"
/db_xref="MIM:608350"
exon 1..243
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
CDS 180..965
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/note="isoform 1 precursor is encoded by transcript
variant 1; endomucin-2; MUC-14; mucin-14; gastric cancer
antigen Ga34"
/codon_start=1
/product="endomucin isoform 1 precursor"
/protein_id="NP_057326.2"
/db_xref="GI:20070284"
/db_xref="CCDS:CCDS3655.1"
/db_xref="GeneID:51705"
/db_xref="HGNC:16041"
/db_xref="HPRD:12220"
/db_xref="MIM:608350"
/translation="
MELLQVTILFLLPSICSSNSTGVLEAANNSLVVTTTKPSITTPNTESLQKNVVTPTTGTTPKGTITNELLKMSLMSTATFLTSKDEGLKATTTDVRKNDSIISNVTVTSVTLPNAVSTLQSSKPKTETQSSIKTTEIPGSVLQPDASPSKTGTLTSIPVTIPENTSQSQVIGTEGGKNASTSATSRSYSSIILPVVIALIVITLSVFVLVGLYRMCWKADPGTPENGNDQPQSDKESVKLLTVKTISHESGEHSAQGKTKN
"
misc_feature 180..962
/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"
mat_peptide 234..962
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/product="Endomucin"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9ULC0.2)"
misc_feature 750..812
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9ULC0.2);
transmembrane region"
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..594
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
exon 595..687
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
variation 604
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/replace="c"
/replace="t"
/db_xref="dbSNP:11538886"
exon 688..747
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
exon 748..843
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
exon 844..868
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
exon 869..930
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
exon 931..1004
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
exon 1005..4037
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/inference="alignment:Splign:1.39.8"
variation 1136
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/replace="a"
/replace="g"
/db_xref="dbSNP:1025507"
STS 1204..1447
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="SHGC-50369"
/db_xref="UniSTS:17269"
STS 1285..1438
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="SHGC-59859"
/db_xref="UniSTS:57961"
STS 1339..1449
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="A009Z43"
/db_xref="UniSTS:60865"
STS 1339..1449
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="G33030"
/db_xref="UniSTS:117607"
variation 1370
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/replace="a"
/replace="g"
/db_xref="dbSNP:4071"
STS 1423..1525
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="SHGC-36015"
/db_xref="UniSTS:63440"
variation 1683
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/replace="c"
/replace="g"
/db_xref="dbSNP:1025508"
variation 1898
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/replace="c"
/replace="t"
/db_xref="dbSNP:1368524"
STS 2267..2416
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="SHGC-24789"
/db_xref="UniSTS:30738"
STS 2317..2416
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="SHGC-50547"
/db_xref="UniSTS:30739"
STS 2694..2762
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="D1S1423"
/db_xref="UniSTS:149619"
STS 3586..3705
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="RH98916"
/db_xref="UniSTS:88312"
STS 3841..4027
/gene="EMCN"
/gene_synonym="EMCN2; MUC14"
/standard_name="STS-N22495"
/db_xref="UniSTS:21247"
ORIGIN
gggagtgtgtgtatttcctcccgttctttatcagagcccccaaaataagtaggaatgggcagtggctattcacattcactacaccttttccatttgctaataaggccctgccaggctgggagggaattgtccctgcctgcttctggagaaagaagatattgacaccatctacgggcaccatggaactgcttcaagtgaccattctttttcttctgcccagtatttgcagcagtaacagcacaggtgttttagaggcagctaataattcacttgttgttactacaacaaaaccatctataacaacaccaaacacagaatcattacagaaaaatgttgtcacaccaacaactggaacaactcctaaaggaacaatcaccaatgaattacttaaaatgtctctgatgtcaacagctacttttttaacaagtaaagatgaaggattgaaagccacaaccactgatgtcaggaagaatgactccatcatttcaaacgtaacagtaacaagtgttacacttccaaatgctgtttcaacattacaaagttccaaacccaagactgaaactcagagttcaattaaaacaacagaaataccaggtagtgttctacaaccagatgcatcaccttctaaaactggtacattaacctcaataccagttacaattccagaaaacacctcacagtctcaagtaataggcactgagggtggaaaaaatgcaagcacttcagcaaccagccggtcttattccagtattattttgccggtggttattgctttgattgtaataacactttcagtatttgttctggtgggtttgtaccgaatgtgctggaaggcagatccgggcacaccagaaaatggaaatgatcaacctcagtctgataaagagagcgtgaagcttcttaccgttaagacaatttctcatgagtctggtgagcactctgcacaaggaaaaaccaagaactgacagcttgaggaattctctccacacctaggcaataattacgcttaatcttcagcttctatgcaccaagcgtggaaaaggagaaagtcctgcagaatcaatcccgacttccatacctgctgctggactgtaccagacgtctgtcccagtaaagtgatgtccagctgacatgcaataatttgatggaatcaaaaagaaccccggggctctcctgttctctcacatttaaaaattccattactccatttacaggagcgttcctaggaaaaggaattttaggaggagaatttgtgagcagtgaatctgacagcccaggaggtgggctcgctgataggcatgactttccttaatgtttaaagttttccgggccaagaatttttatccatgaagactttcctacttttctcagtgttcttatattacctactgttagtatttattgtttaccactatgttaatgcagggaaaagttgcacgtgtattattaaatattaggtagaaatcataccatgctactttgtacatataagtattttattcctgctttcgtgttacttttaataaataactactgtactcaatactctaaaaatactataacatgactgtgaaaatggcaatgttattgtcttcctataattatgaatatttttggatggattattagaatacatgaactcactaatgaaaggcatttgtaataagtcagaaagggacatacgattcacatatcagactgttagggggagagtaatttatcagttctttggtctttctatttgtcattcatactatgtgatgaagatgtaagtgcaagggcatttataacactatactgcattcattaagataataggatcatgatttttcattaactcatttgattgatattatctccatgcattttttatttcttttagaaatgtaattatttgctctagcaatcattgctaacctctagtttgtagaaaatcaacactttataaatacataattatgatattatttttcattgtatcactgttctaaaaataccatatgattatagctgccactccatcaggagcaaattcttctgttaaaagctaactgatcaaccttgaccacttttttgacatgtgagatcaaagtgtcaagttggctgaggttttttggaaagctttagaactaataagctgctggtggcagctttgtaacgtatgattatctaagctgattttgatgctaaattatcttagtgatctaaggggcagtttagtgaagatggaatcttgtatttaaaatagccttttaaaatttgttttgtggtgatgtattttgacaacttccatctttaggagttatataatcaccttgattttagtttcctgatgtttggactatttataatcaaggacaccaagcaagcataagcatatctatatttctgactggtgtctctttgagaaggatgggaagtagaaaaaaaaaaaagaaagaaaggaaaggaagagaggagagaagaaggcagggatctccactatgtatgttttcactttagaactgttgagcccatgcttaattttaatctagaagtctttaaatggtgagacagtgactggagcatgccaatcagagagcatttgtcttcagaaaaaaaaaaaatctgagtttgagactagcctggccaacatgttgaaaccccatatctactaaaaatacaaaaattagcctggtgtggtggcgcacgcctgtagtcccagctactctggagcctgaggaacgtgaatcgcttgaacccagaagacagaggttgcagtgagctgagatggcactattgcactccagcctgggtgacacagcaagactctgtctcaaaaaaaaaaaaaaaaaaaaggaaaaaaaagaaagaaagaaagtcccagcacacctagataatttaccgagctcttcagcaaaaaccatgttacatacagcatattccaaagaaatgaactcttctgcaatttaaattataagtaatatgttattttggatcctagagaaaccattttctctacatttcatgagcatggttagaaaagagtttacaagaattaggaagagggaacaattttaatggtcagaaaagaataaaatttattctagttcaagaagtgcacacaaagaatatgcattaatctaacaactatgagattaaatctttcaaaaaggtcaaaggaggattgagaagtttacagagatgtccacggcattttatatcaatctcaaaggtaaggtctgcatttttataaaccaacttaaacttctgttgagataggatattttgttttcaagccaaaattaccattaatcaaatatgttttaattatctgatttagatgatctactttttatgcctggcttactgtaagttttttattctgatacacagttcaaacatcattgcaacaaagaagtgcctgtatttagatcaaaggcaagactttctatgtgtttgttttgcataataatatgaatataatttaagtctatcaatagtcaaaacataaacaaaagctaattaactggcactgttgtcacctgagactaagtggatgttgttggctgacatacaggctcagccagcagagaaagaattctgaattccccttgctgaactgaactattctgttacatatggttgacaaatctgtgtgttatttcttttctacctaccatatttaaatttatgagtatcaaccgaggacatagtcaaaccttcgatgatgaacattcctgattttttgcctgattattctctgttgagctctacttgtggtcattcaagattttatgatgttgaaaggaaaagtgaatatgacctttaaaaattgtattttgggtgatgatagtctcaccactataaaactgtcaattattgcctaatgttaaagatatccatcattgtgattaattaaacctataatgagtattcttaatggagaattcttaatggatggattatcccctgatcttttctttaaaatttctctgcacacacaggacttctcattttccaataaatgggtgtactctgccccaatttctagggaaaaaaaaaaaa
//
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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