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2024-04-20 13:53:08, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_052858 2698 bp mRNA linear PRI 22-JUN-2013
DEFINITION Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript
variant 2, mRNA.
ACCESSION NM_052858
VERSION NM_052858.5 GI:514239923
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 2698)
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 2698)
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 2698)
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 2698)
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 2698)
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 2698)
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 2698)
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, BC011893.2, AK292185.1, AC009097.9 and CR740484.1.
On Jun 22, 2013 this sequence version replaced gi:404501495.
Transcript Variant: This variant (2) uses an alternate exon at its
3' terminus, compared to variant 1, which results in a protein
(isoform 2) with a shorter and distinct C-terminus, compared to
isoform 1. There is no support for the protein predicted to be
encoded by this variant.
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 :: BC011893.2, BE797382.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-33 BP320419.1 2-34
34-254 BC011893.2 1-221
255-672 AK292185.1 221-638
673-1210 BC011893.2 640-1177
1211-2493 AC009097.9 95512-96794
2494-2698 CR740484.1 314-518
FEATURES Location/Qualifiers
source 1..2698
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q22.2"
gene 1..2698
/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..544
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/inference="alignment:Splign:1.39.8"
CDS 78..1283
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/note="isoform 2 is encoded by transcript variant 2;
MARVEL (membrane-associating) domain containing 3; MARVEL
domain-containing protein 3"
/codon_start=1
/product="MARVEL domain-containing protein 3 isoform 2"
/protein_id="NP_443090.4"
/db_xref="GI:514239924"
/db_xref="CCDS:CCDS10904.1"
/db_xref="GeneID:91862"
/db_xref="HGNC:30525"
/db_xref="MIM:614094"
/translation="
MEDPSGAREPRARPRERDPGRRPHPDQGRTHDRPRDRPGDPRRKRSSDGNRRRDGDRDPERDQERDGNRDRNRDRERERERERDPDRGPRRDTHRDAGPRAGEHGVWEKPRQSRTRDGARGLTWDAAAPPGPAPWEAPEPPQPQRKGDPGRRRPESEPPSERYLPSTPRPGREEVEYYQSEAEGLLECHKCKYLCTGRACCQMLEVLLNLLILACSSVSYSSTGGYTGITSLGGIYYYQFGGAYSGFDGADGEKAQQLDVQFYQLKLPMVTVAMACSGALTALCCLFVAMGVLRVPWHCPLLLVTEGLLDMLIAGGYIPALYFYFHYLSAAYGSPVCKERQALYQSKGYSGFGCSFHGADIGAGIFAALGIVVFALGAVLAIKGYRKVRKLKEKPAEMFEF
"
misc_feature 756..818
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96A59.3);
transmembrane region"
misc_feature 891..953
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96A59.3);
transmembrane region"
misc_feature 978..1040
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96A59.3);
transmembrane region"
misc_feature 1158..1220
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96A59.3);
transmembrane region"
exon 545..672
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/inference="alignment:Splign:1.39.8"
exon 673..2685
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/inference="alignment:Splign:1.39.8"
STS 782..1505
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/standard_name="MRVLDC3__7189"
/db_xref="UniSTS:466345"
STS 1633..1723
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 1689..1778
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/standard_name="PMC156606P1"
/db_xref="UniSTS:271408"
STS 1719..1972
/gene="MARVELD3"
/gene_synonym="MARVD3; MRVLDC3"
/standard_name="L17709"
/db_xref="UniSTS:42599"
ORIGIN
gggcttggccacctgcccaagaaacttgttggttgttgccctcaggtcgctcccgggcgcggacacggaacccggccatggaagatccgtcgggggctcgcgagccccgggcccggccgagagagcgggacccgggacggcgcccccacccagaccaaggccgcacccacgatcgaccgcgggaccgacccggggacccgcgcaggaagcgaagcagcgacgggaaccggcgaagggacggggaccgggacccggagagagaccaggagagggacgggaaccgcgaccggaaccgggaccgggagagggagagagagagggaaagagacccggaccgaggcccccgccgggacacacacagggacgcgggccctcgcgcaggtgaacacggagtttgggaaaaaccgcgccaaagccggacgcgggacggagcccggggactgacctgggacgcagccgcgcctcctgggcccgcgccctgggaagccccggagccgccgcagccgcagaggaagggagaccccgggcgccgcagacccgaaagtgaacccccttcggagagatatctgccctcgacccccaggcctggacgagaggaggtggaatattaccagtcagaggcggaaggactcctggaatgccacaaatgcaaatacttgtgcactgggagagcctgctgccaaatgctggaggttctcctgaacttgctgatcctggcctgcagctctgtgtcttacagttccacagggggctacacgggcatcaccagcttggggggcatttactactatcagttcggaggggcttacagtggctttgatggtgctgacggggagaaggcccagcaactggatgtccagttctaccagctaaagctgcccatggtcactgtggcaatggcctgtagtggagccctcacagccctctgctgcctcttcgttgccatgggtgtcctgcgggtcccgtggcattgtccactgttgctggtgaccgaaggcttgttggacatgctcatcgcgggggggtacatcccggccttgtacttctacttccactacctctctgctgcctatggctctcctgtgtgtaaagagaggcaggcgctgtaccaaagcaaaggctacagcggtttcggctgcagtttccacggagcagatataggagctggaatctttgctgccctgggcattgtggtctttgccctgggggctgtcctggccataaagggctaccgaaaagttaggaagctaaaagagaagccagcagaaatgtttgaattttaagggtttctaaaacgctctgacagatgcaagtggtggtggaaggtagtctgagccactgcctttcccaagaatcccttgttgtggaagtttccagtgctggaaaagcagcgagccagcgttggtgtggtgggcggagctcccagtcgcatggagcggtgttcatggatgcaacagaccctggcttctggagtcctctgtgagtgagggaccaatcaaaattatttttcaaaaagcaaaaaaatggccggcctcggcggctcacacctgtaaccccagcactttgggaggctgaggtgggtggatcacttgaggtcaggagctcgagaccagcttggccaacatggtgagcccccgtctctactaaaatacaaaaaaattagccaggcgtggtggcgggcgcctgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaatctgggaggcggagattgcagtgagccgagatcccgccactgcactccagcccaggtgacagagcgagactccatctcaaaaaaaaaaaaaagcaaaaaaactggaccccaagagccacaaggaaaaagcatgtactacaacagagtgcacctcttcattcagtaaagggaggtcaccaagagaatttgatgaaccttaccttcaaagttcctgggcacagtggctcacacctgtaatcccagagctttgggaggctgaggtaggaggattgcttgaacccaggagttcaagtttgcagtgcgctatgattgtcccactacactctagcctgagcaacagaccaagaccgtattgccaaaataccaaaaaaaaaaaaagttcatggagagccacatagacatgagaccacacttcagcctgaatttttctaaaacacagttgtctcaagcagattactccacacgtttttccacactgaactctccagtccttccacttccttaattctgcaaatggagggggtggggactcttgggaaactactcctgtaaaattgaagttggaggtaggcgtgggctgaggaaagaggaatcagattaattctctgggttgcaaagaggctattctgcaagccccttacagtggccctgaaagctcaataagtgttttgtacctcttgtaaatgtgccattgtgtgaagcattaaacccaacatctagaattcaggattcatccagaataaaaggatgtaaaatctttcccaacagaagagtgttacttttggtcagacaacttcatgggttcttactgcacattaaattatgacttatggaacattgcaatatattctcggtccttaagttatgacttatggaacattacaatatattctcggtccaagtgagtaagttctttgctttatgtgaatccaataaaaaatccaaagaattttaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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