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2024-04-20 19:15:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001425 850 bp mRNA linear PRI 21-APR-2013
DEFINITION Homo sapiens epithelial membrane protein 3 (EMP3), mRNA.
ACCESSION NM_001425
VERSION NM_001425.2 GI:168693626
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 850)
AUTHORS Pasini,A., Iorio,P., Bianchi,E., Cerasoli,S., Cremonini,A.M.,
Faedi,M., Guarnieri,C., Guiducci,G., Riccioni,L., Molinari,C.,
Rengucci,C., Calistri,D. and Giordano,E.
TITLE LOH 19q indicates shorter disease progression-free interval in
low-grade oligodendrogliomas with EMP3 methylation
JOURNAL Oncol. Rep. 28 (6), 2271-2277 (2012)
PUBMED 22992787
REMARK GeneRIF: LOH 19q determines the complete loss of EMP3 function, as
the conserved allele is frequently hypermethylated, and this may
represent the molecular basis of the higher risk of relapse in this
subgroup of grade II oligodendroglioma patients.
REFERENCE 2 (bases 1 to 850)
AUTHORS Jiang,Z., Zhou,W., Li,X.G., Jiang,Y.Q., Wang,L., Wang,D.H.,
Wang,X.Y. and Li,X.E.
TITLE [The methylation analysis of EMP3 and PCDH-gamma-A11 gene in human
glioma]
JOURNAL Zhonghua Wai Ke Za Zhi 48 (4), 300-304 (2010)
PUBMED 20388442
REMARK GeneRIF: The promoter methylation and mRNA expressions of EMP3 and
PCDH-gamma-A11 are closely related with the malignant development
of glioma.
REFERENCE 3 (bases 1 to 850)
AUTHORS Fumoto,S., Hiyama,K., Tanimoto,K., Noguchi,T., Hihara,J.,
Hiyama,E., Noguchi,T. and Nishiyama,M.
TITLE EMP3 as a tumor suppressor gene for esophageal squamous cell
carcinoma
JOURNAL Cancer Lett. 274 (1), 25-32 (2009)
PUBMED 18823699
REMARK GeneRIF: Loss of EMP3 is associated with esophageal squamous cell
carcinoma.
REFERENCE 4 (bases 1 to 850)
AUTHORS Zhou,W., Jiang,Z., Li,X., Xu,F., Liu,Y., Wen,P., Kong,L., Hou,M.
and Yu,J.
TITLE EMP3 overexpression in primary breast carcinomas is not associated
with epigenetic aberrations
JOURNAL J. Korean Med. Sci. 24 (1), 97-103 (2009)
PUBMED 19270820
REMARK GeneRIF: Epithelial membrane protein 3 overexpression in breast
carcinomas was significantly related to histological grade III ,
lymph node metastasis , and strong Her-2 expression.
REFERENCE 5 (bases 1 to 850)
AUTHORS Kunitz,A., Wolter,M., van den Boom,J., Felsberg,J., Tews,B.,
Hahn,M., Benner,A., Sabel,M., Lichter,P., Reifenberger,G., von
Deimling,A. and Hartmann,C.
TITLE DNA hypermethylation and aberrant expression of the EMP3 gene at
19q13.3 in Human Gliomas
JOURNAL Brain Pathol. 17 (4), 363-370 (2007)
PUBMED 17610521
REMARK GeneRIF: Oligodendroglial and astrocytic gliomas show EMP3
hypermethylation and aberrant expression. Primary and secondary
glioblastomas have distinct genetic profiles and also differ in
their epigenetic aberrations.
REFERENCE 6 (bases 1 to 850)
AUTHORS Liehr,T., Kuhlenbaumer,G., Wulf,P., Taylor,V., Suter,U., Van
Broeckhoven,C., Lupski,J.R., Claussen,U. and Rautenstrauss,B.
TITLE Regional localization of the human epithelial membrane protein
genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and
19q13.3
JOURNAL Genomics 58 (1), 106-108 (1999)
PUBMED 10331954
REFERENCE 7 (bases 1 to 850)
AUTHORS Bolin,L.M., McNeil,T., Lucian,L.A., DeVaux,B., Franz-Bacon,K.,
Gorman,D.M., Zurawski,S., Murray,R. and McClanahan,T.K.
TITLE HNMP-1: a novel hematopoietic and neural membrane protein
differentially regulated in neural development and injury
JOURNAL J. Neurosci. 17 (14), 5493-5502 (1997)
PUBMED 9204931
REFERENCE 8 (bases 1 to 850)
AUTHORS Ben-Porath,I. and Benvenisty,N.
TITLE Characterization of a tumor-associated gene, a member of a novel
family of genes encoding membrane glycoproteins
JOURNAL Gene 183 (1-2), 69-75 (1996)
PUBMED 8996089
REFERENCE 9 (bases 1 to 850)
AUTHORS Taylor,V. and Suter,U.
TITLE Epithelial membrane protein-2 and epithelial membrane protein-3:
two novel members of the peripheral myelin protein 22 gene family
JOURNAL Gene 175 (1-2), 115-120 (1996)
PUBMED 8917086
REFERENCE 10 (bases 1 to 850)
AUTHORS Lobsiger,C.S., Magyar,J.P., Taylor,V., Wulf,P., Welcher,A.A.,
Program,A.E. and Suter,U.
TITLE Identification and characterization of a cDNA and the structural
gene encoding the mouse epithelial membrane protein-1
JOURNAL Genomics 36 (3), 379-387 (1996)
PUBMED 8884260
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL541088.3 and BC009718.1.
On Feb 23, 2008 this sequence version replaced gi:4503562.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AL541088.3, BQ072922.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-748 AL541088.3 1-748
749-850 BC009718.1 556-657
FEATURES Location/Qualifiers
source 1..850
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.3"
gene 1..850
/gene="EMP3"
/gene_synonym="YMP"
/note="epithelial membrane protein 3"
/db_xref="GeneID:2014"
/db_xref="HGNC:3335"
/db_xref="HPRD:18514"
/db_xref="MIM:602335"
exon 1..239
/gene="EMP3"
/gene_synonym="YMP"
/inference="alignment:Splign:1.39.8"
variation 73
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:185841956"
variation 197
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:80096621"
misc_feature 219..221
/gene="EMP3"
/gene_synonym="YMP"
/note="upstream in-frame stop codon"
variation 229
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:73587206"
exon 240..332
/gene="EMP3"
/gene_synonym="YMP"
/inference="alignment:Splign:1.39.8"
variation 244
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="g"
/db_xref="dbSNP:61764024"
CDS 255..746
/gene="EMP3"
/gene_synonym="YMP"
/note="EMP-3; HNMP-1; hematopoietic neural membrane
protein 1"
/codon_start=1
/product="epithelial membrane protein 3"
/protein_id="NP_001416.1"
/db_xref="GI:4503563"
/db_xref="CCDS:CCDS12715.1"
/db_xref="GeneID:2014"
/db_xref="HGNC:3335"
/db_xref="HPRD:18514"
/db_xref="MIM:602335"
/translation="
MSLLLLVVSALHILILILLFVATLDKSWWTLPGKESLNLWYDCTWNNDTKTWACSNVSENGWLKAVQVLMVLSLILCCLSFILFMFQLYTMRRGGLFYATGLCQLCTSVAVFTGALIYAIHAEEILEKHPRGGSFGYCFALAWVAFPLALVSGIIYIHLRKRE
"
misc_feature 264..326
/gene="EMP3"
/gene_synonym="YMP"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P54852.1);
transmembrane region"
misc_feature 318..722
/gene="EMP3"
/gene_synonym="YMP"
/note="PMP-22/EMP/MP20/Claudin family; Region:
PMP22_Claudin; pfam00822"
/db_xref="CDD:109862"
misc_feature 450..512
/gene="EMP3"
/gene_synonym="YMP"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P54852.1);
transmembrane region"
misc_feature 552..614
/gene="EMP3"
/gene_synonym="YMP"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P54852.1);
transmembrane region"
misc_feature 669..731
/gene="EMP3"
/gene_synonym="YMP"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P54852.1);
transmembrane region"
variation 257
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="g"
/db_xref="dbSNP:146324824"
variation 290
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:373974189"
exon 333..435
/gene="EMP3"
/gene_synonym="YMP"
/inference="alignment:Splign:1.39.8"
variation 352
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:146091933"
variation 377
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="g"
/db_xref="dbSNP:201392469"
variation 378
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:370992861"
variation 386
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:139549534"
variation 422
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:149302468"
exon 436..576
/gene="EMP3"
/gene_synonym="YMP"
/inference="alignment:Splign:1.39.8"
variation 449
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:202209148"
variation 476
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:199699923"
variation 487
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="g"
/db_xref="dbSNP:370028365"
variation 505
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:112486260"
variation 528
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:202222961"
variation 532
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:182097678"
variation 542
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:1044391"
variation 545
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:1044395"
variation 555
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:372202129"
variation 574
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:144587503"
exon 577..829
/gene="EMP3"
/gene_synonym="YMP"
/inference="alignment:Splign:1.39.8"
STS 579..746
/gene="EMP3"
/gene_synonym="YMP"
/standard_name="RH71237"
/db_xref="UniSTS:90100"
variation 605
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:1044421"
variation 614
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:17850542"
variation 617
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:78590775"
STS 621..725
/gene="EMP3"
/gene_synonym="YMP"
/standard_name="RH44868"
/db_xref="UniSTS:46144"
variation 627
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:4893"
variation 663
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:145315471"
variation 669
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="t"
/db_xref="dbSNP:373817758"
variation 680
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="g"
/db_xref="dbSNP:12610644"
variation 695
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:377482803"
variation 729
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:11671673"
variation 739
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:147560109"
variation 747
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:11671746"
variation 749
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="g"
/db_xref="dbSNP:199576440"
variation 753
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:201861420"
variation 762
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:369650682"
variation 770
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="c"
/db_xref="dbSNP:12610655"
variation 771
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:200562056"
variation 773
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:61764025"
variation 819
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="t"
/db_xref="dbSNP:8355"
variation 825
/gene="EMP3"
/gene_synonym="YMP"
/replace="c"
/replace="g"
/db_xref="dbSNP:11665"
variation 829
/gene="EMP3"
/gene_synonym="YMP"
/replace="a"
/replace="g"
/db_xref="dbSNP:3180511"
ORIGIN
cgggagcaagagagaaggaggcccagacagtgagggcaggagggagagaagagacgcagaaggagagcgagcgagagagaaagggttctggattggaggggagagcaagggagggaggaaggcggtgagagaggcgggggcctcgggagggtgaaaggagggaggagaagggcggggcacggaggcccgagcgagggacaagactccgactccagctctgacttttttcgcggctctcggcttccactgcagccatgtcactcctcttgctggtggtctcagcccttcacatcctcattcttatactgcttttcgtggccactttggacaagtcctggtggactctccctgggaaagagtccctgaatctctggtacgactgcacgtggaacaacgacaccaaaacatgggcctgcagtaatgtcagcgagaatggctggctgaaggcggtgcaggtcctcatggtgctctccctcattctctgctgtctctccttcatcctgttcatgttccagctctacaccatgcgacgaggaggtctcttctatgccaccggcctctgccagctttgcaccagcgtggcggtgtttactggcgccttgatctatgccattcacgccgaggagatcctggagaagcacccgcgagggggcagcttcggatactgcttcgccctggcctgggtggccttccccctcgccctggtcagcggcatcatctacatccacctacggaagcgggagtgagcgccccgcctcgctcggctgcccccgccccttcccggcccccctcgccgcgcgtcctccaaaaaataaaaccttaaccgcggaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2014 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: TAS
GeneID:2014 -> Biological process: GO:0016049 [cell growth] evidence: IEA
GeneID:2014 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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