2025-05-12 01:53:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001271329 2110 bp mRNA linear PRI 22-JUN-2013 DEFINITION Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 3, mRNA. ACCESSION NM_001271329 VERSION NM_001271329.1 GI:404501497 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 2110) AUTHORS Cording,J., Berg,J., Kading,N., Bellmann,C., Tscheik,C., Westphal,J.K., Milatz,S., Gunzel,D., Wolburg,H., Piontek,J., Huber,O. and Blasig,I.E. TITLE In tight junctions, claudins regulate the interactions between occludin, tricellulin and marvelD3, which, inversely, modulate claudin oligomerization JOURNAL J. Cell. Sci. 126 (PT 2), 554-564 (2013) PUBMED 23203797 REFERENCE 2 (bases 1 to 2110) AUTHORS Timmann,C., Thye,T., Vens,M., Evans,J., May,J., Ehmen,C., Sievertsen,J., Muntau,B., Ruge,G., Loag,W., Ansong,D., Antwi,S., Asafo-Adjei,E., Nguah,S.B., Kwakye,K.O., Akoto,A.O., Sylverken,J., Brendel,M., Schuldt,K., Loley,C., Franke,A., Meyer,C.G., Agbenyega,T., Ziegler,A. and Horstmann,R.D. TITLE Genome-wide association study indicates two novel resistance loci for severe malaria JOURNAL Nature 489 (7416), 443-446 (2012) PUBMED 22895189 REFERENCE 3 (bases 1 to 2110) AUTHORS Kojima,T., Takasawa,A., Kyuno,D., Ito,T., Yamaguchi,H., Hirata,K., Tsujiwaki,M., Murata,M., Tanaka,S. and Sawada,N. TITLE Downregulation of tight junction-associated MARVEL protein marvelD3 during epithelial-mesenchymal transition in human pancreatic cancer cells JOURNAL Exp. Cell Res. 317 (16), 2288-2298 (2011) PUBMED 21763689 REMARK GeneRIF: MarvelD3 is transcriptionally downregulated in Snail-induced epithelial-mesenchymal transition during the progression for the pancreatic cancer. REFERENCE 4 (bases 1 to 2110) AUTHORS Raleigh,D.R., Marchiando,A.M., Zhang,Y., Shen,L., Sasaki,H., Wang,Y., Long,M. and Turner,J.R. TITLE Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions JOURNAL Mol. Biol. Cell 21 (7), 1200-1213 (2010) PUBMED 20164257 REMARK GeneRIF: marvelD3, occludin, and tricellulin define the tight junction-associated MARVEL protein family REFERENCE 5 (bases 1 to 2110) AUTHORS Steed,E., Rodrigues,N.T., Balda,M.S. and Matter,K. TITLE Identification of MarvelD3 as a tight junction-associated transmembrane protein of the occludin family JOURNAL BMC Cell Biol. 10, 95 (2009) PUBMED 20028514 REMARK GeneRIF: MarvelD3 co-localises with occludin at tight junctions in intestinal and corneal epithelial cells. Publication Status: Online-Only REFERENCE 6 (bases 1 to 2110) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 REFERENCE 7 (bases 1 to 2110) AUTHORS Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J., Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and Kim,N.S. TITLE Transcriptome analysis of human gastric cancer JOURNAL Mamm. Genome 16 (12), 942-954 (2005) PUBMED 16341674 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BP320419.1, AK307585.1, AC009097.9 and AA568498.1. Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1. There is no support for the protein predicted to be encoded by this variant. ##Evidence-Data-START## Transcript exon combination :: AK307585.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-31 BP320419.1 2-32 32-1382 AK307585.1 1-1351 1383-1905 AC009097.9 102044-102566 1906-2110 AA568498.1 1-205 c FEATURES Location/Qualifiers source 1..2110 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q22.2" gene 1..2110 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /note="MARVEL domain containing 3" /db_xref="GeneID:91862" /db_xref="HGNC:30525" /db_xref="MIM:614094" exon 1..381 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /inference="alignment:Splign:1.39.8" variation 29 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:199550688" variation 60 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:4788820" CDS 78..524 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /note="isoform 3 is encoded by transcript variant 3; MARVEL (membrane-associating) domain containing 3; MARVEL domain-containing protein 3" /codon_start=1 /product="MARVEL domain-containing protein 3 isoform 3" /protein_id="NP_001258258.1" /db_xref="GI:404501498" /db_xref="CCDS:CCDS59270.1" /db_xref="GeneID:91862" /db_xref="HGNC:30525" /db_xref="MIM:614094" /translation="
MEDPSGAREPRARPRERDPGRRPHPDQGRTHDRPRDRPGDPRRKRSSDGNRRRDGDRDPERDQERDGNRDRNRDRERERERERDPDRGPRRDTHRDAGPRAVNPLRRDICPRPPGLDERRWNITSQRRKDSWNATNANTCALGEVWCR
" variation 184 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="t" /db_xref="dbSNP:376285378" variation 187 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:370821754" variation 201 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="c" /db_xref="dbSNP:373036309" variation 228 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:370366568" variation 230 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:374529307" variation 255 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:4788821" variation 293 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:76434914" variation 305 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:376026417" variation 330 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="c" /db_xref="dbSNP:201459139" variation 339 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:372441129" variation 346 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="g" /replace="t" /db_xref="dbSNP:201434319" variation 349 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:61753635" exon 382..509 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /inference="alignment:Splign:1.39.8" variation 382 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:202067406" variation 394 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:149016402" variation 402 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:373378287" variation 412 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:200818950" variation 414 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:146045891" variation 462 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:375223782" variation 501 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:199614023" variation 506 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="t" /db_xref="dbSNP:143759600" exon 510..2085 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /inference="alignment:Splign:1.39.8" variation 529 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:375705658" variation 537 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:139665459" variation 562 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:117388624" variation 586 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:147595258" variation 587 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:369841189" variation 610 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:372495610" variation 611 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:111585833" variation 614 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:201509244" variation 622 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="t" /db_xref="dbSNP:72799852" variation 633 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:142054045" variation 642 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:376389459" variation 646 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:367694179" variation 647 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:200541338" variation 671 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:140602857" variation 672 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:201544903" variation 693 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:371950282" variation 724 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:199750986" variation 789 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:199684141" variation 827 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:145897917" variation 883 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:200660505" variation 907 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="c" /db_xref="dbSNP:373575019" variation 924 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:200552224" variation 925 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:370061470" variation 949 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:146595006" variation 983 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:74425399" variation 1015 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:375582710" variation 1016 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:368492439" variation 1028 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:141358444" variation 1061 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:138854747" variation 1064 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:201839766" variation 1093 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:367583136" variation 1098 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:200621755" variation 1099 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="g" /db_xref="dbSNP:2303225" variation 1123 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:112608295" variation 1131 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="g" /replace="t" /db_xref="dbSNP:371616837" variation 1143 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="g" /replace="t" /db_xref="dbSNP:200707122" variation 1156 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="g" /replace="t" /db_xref="dbSNP:79422919" variation 1160 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="c" /db_xref="dbSNP:200159769" variation 1172 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:13337162" variation 1177 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:74027272" variation 1182 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:193188432" variation 1196 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:372021599" variation 1353 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:8058188" variation 1363 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:182960094" STS 1399..1622 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /standard_name="D8S2279" /db_xref="UniSTS:473907" variation 1430 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:377086815" variation 1447 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="c" /db_xref="dbSNP:12927320" STS 1534..1622 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /standard_name="D8S2279" /db_xref="UniSTS:473907" STS 1553..1663 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /standard_name="D10S275" /db_xref="UniSTS:147992" variation 1568 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:111371379" variation 1569 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:139582245" variation 1596 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="g" /replace="t" /db_xref="dbSNP:372937295" variation 1657 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:8058297" variation 1702 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:187330674" variation 1741 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:370661203" variation 1768 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:191783584" variation 1840 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:183625027" variation 1861 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:11555792" variation 1864 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="a" /replace="g" /db_xref="dbSNP:186844947" variation 1878 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="g" /replace="t" /db_xref="dbSNP:11555793" variation 2074 /gene="MARVELD3" /gene_synonym="MARVD3; MRVLDC3" /replace="c" /replace="t" /db_xref="dbSNP:145662115" ORIGIN
gggcttggccacctgcccaagaaacttgttggttgttgccctcaggtcgctcccgggcgcggacacggaacccggccatggaagatccgtcgggggctcgcgagccccgggcccggccgagagagcgggacccgggacggcgcccccacccagaccaaggccgcacccacgatcgaccgcgggaccgacccggggacccgcgcaggaagcgaagcagcgacgggaaccggcgaagggacggggaccgggacccggagagagaccaggagagggacgggaaccgcgaccggaaccgggaccgggagagggagagagagagggaaagagacccggaccgaggcccccgccgggacacacacagggacgcgggccctcgcgcagtgaacccccttcggagagatatctgccctcgacccccaggcctggacgagaggaggtggaatattaccagtcagaggcggaaggactcctggaatgccacaaatgcaaatacttgtgcactgggagaggtgtggtgcagatagtggaggtggtcttgaatgggatggttctcatatgcatcgtggcctcctactttgtccttgccggattcagtgccagcttttccagcggcggtggctttgggaacaactactactcaccgttcgagggcactgagctagagcaggttcggcagctggaccagcagtacacgatcctccgctcgcccctgatatacggtggcgtggctgtttctctgggtctgggggtcctcaccatgggtgttttactccaaggagccaagagtcgaacaatgttgtcagggaagtggctcctcacggaggccgccttcagcctcctagcggcagtgggctactgcacaggcattggtgtttacctccacgtggctctgcagatcaatagcaccgacacttgcaaaacaagagagaggctctatgcccgcaagggtctcacctggatggactgccagctggcaggcaccgacggagcagcagccacctttgcttgtcttctcgtgatcatgtacggcgccagcgtggtgctggccctgcgtagctaccgagaacagaagcgctacaaaggcagccgagaacagcccggaagttacagtgatgcaccggaatatctgtggtctggaactctttgagatcttccggaacctaaatgtgaacgcacattgtttctctcaaaaagacaggtcttttaaaactccgcattagacaactatggttttcacacacttgactttataaatgctctctttggactgaggcaaagttaaagaattgaggacgggcatggtggctcatgcctgtaatcccagcactttgggaggctgaggtgggcggatcgcttgaggtcagcagattgagtccagcctggctcacatagcgaaaccctgtctctactaaaaatacaaaaaatcgccgggcatggtggctcacgcctgtaatcccagcactttaggaggccaaggcaggcagatcacctgaggtcaggtgtttgaaaccagtctggcaaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcgtggtggcaggcacctgtaattccagctactctggaggctgaggcaggagaatctcttaaacccgggaggcagaggttgcagtgagccaagaccattgcactccagcctgggcaacaagagcgagactccgtctcaaaaaaatacaaaaaatcatctgggcttggtggtgaacgcctgtaatcccagttactcaggaggctaaaccacaagaatcacttgaacctgggaggcagaggttgcagtgagcaaactccactccacgtcactgcactccagcctgggtaacagagcgaggctctgtctcaaaaacaacaactacaacaaaaaagataggacagtagattttattagaccctgaagcatactggaggctttttcatttctgcattccctgacagtgctccatagagtaggtcttcaaaggtagatagtaatctcattaccctggactgttctcataatgtaacagatcactaacactgaatcttaaaaataaagttcttttagtaattttaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:91862 -> Biological process: GO:0045216 [cell-cell junction organization] evidence: IMP GeneID:91862 -> Cellular component: GO:0005923 [tight junction] evidence: IDA GeneID:91862 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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