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2024-04-25 11:04:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001344 711 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens defender against cell death 1 (DAD1), mRNA.
ACCESSION NM_001344
VERSION NM_001344.2 GI:168693661
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 711)
AUTHORS Ter-Minassian,M., Wang,Z., Asomaning,K., Wu,M.C., Liu,C.Y.,
Paulus,J.K., Liu,G., Bradbury,P.A., Zhai,R., Su,L.,
Frauenhoffer,C.S., Hooshmand,S.M., De Vivo,I., Lin,X.,
Christiani,D.C. and Kulke,M.H.
TITLE Genetic associations with sporadic neuroendocrine tumor risk
JOURNAL Carcinogenesis 32 (8), 1216-1222 (2011)
PUBMED 21606320
REMARK GeneRIF: single-nucleotide polymorphisms in DAD1 gene is associated
with neuroendocrine tumor.
REFERENCE 2 (bases 1 to 711)
AUTHORS Igci,Y.Z., Arslan,A., Akarsu,E., Erkilic,S., Igci,M., Oztuzcu,S.,
Cengiz,B., Gogebakan,B., Cakmak,E.A. and Demiryurek,A.T.
TITLE Differential expression of a set of genes in follicular and classic
variants of papillary thyroid carcinoma
JOURNAL Endocr. Pathol. 22 (2), 86-96 (2011)
PUBMED 21509594
REMARK GeneRIF: DAD1 gene expression is decreased in follicular variant of
papillary thyroid carcinoma.
REFERENCE 3 (bases 1 to 711)
AUTHORS Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y.,
Honda,M. and Tokunaga,K.
TITLE An approach based on a genome-wide association study reveals
candidate loci for narcolepsy
JOURNAL Hum. Genet. 128 (4), 433-441 (2010)
PUBMED 20677014
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 711)
AUTHORS Liu,C.Y., Wu,M.C., Chen,F., Ter-Minassian,M., Asomaning,K.,
Zhai,R., Wang,Z., Su,L., Heist,R.S., Kulke,M.H., Lin,X., Liu,G. and
Christiani,D.C.
TITLE A Large-scale genetic association study of esophageal
adenocarcinoma risk
JOURNAL Carcinogenesis 31 (7), 1259-1263 (2010)
PUBMED 20453000
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 711)
AUTHORS Kulke,M.H., Freed,E., Chiang,D.Y., Philips,J., Zahrieh,D.,
Glickman,J.N. and Shivdasani,R.A.
TITLE High-resolution analysis of genetic alterations in small bowel
carcinoid tumors reveals areas of recurrent amplification and loss
JOURNAL Genes Chromosomes Cancer 47 (7), 591-603 (2008)
PUBMED 18383209
REMARK GeneRIF: DAD1 protein overexpression is associated with small bowel
carcinoid tumors
REFERENCE 6 (bases 1 to 711)
AUTHORS Kelleher,D.J. and Gilmore,R.
TITLE DAD1, the defender against apoptotic cell death, is a subunit of
the mammalian oligosaccharyltransferase
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 94 (10), 4994-4999 (1997)
PUBMED 9144178
REFERENCE 7 (bases 1 to 711)
AUTHORS Makishima,T., Nakashima,T., Nagata-Kuno,K., Fukushima,K., Iida,H.,
Sakaguchi,M., Ikehara,Y., Komiyama,S. and Nishimoto,T.
TITLE The highly conserved DAD1 protein involved in apoptosis is required
for N-linked glycosylation
JOURNAL Genes Cells 2 (2), 129-141 (1997)
PUBMED 9167970
REFERENCE 8 (bases 1 to 711)
AUTHORS Apte,S.S., Mattei,M.G., Seldin,M.F. and Olsen,B.R.
TITLE The highly conserved defender against the death 1 (DAD1) gene maps
to human chromosome 14q11-q12 and mouse chromosome 14 and has plant
and nematode homologs
JOURNAL FEBS Lett. 363 (3), 304-306 (1995)
PUBMED 7737422
REFERENCE 9 (bases 1 to 711)
AUTHORS Yulug,I.G., See,C.G., Fisher,E.M. and Ylug,I.G.
TITLE The DAD1 protein, whose defect causes apoptotic cell death, maps to
human chromosome 14
JOURNAL Genomics 26 (2), 433-435 (1995)
PUBMED 7601483
REMARK Erratum:[Genomics 1995 Jul 1;28(1):129]
REFERENCE 10 (bases 1 to 711)
AUTHORS Nakashima,T., Sekiguchi,T., Kuraoka,A., Fukushima,K., Shibata,Y.,
Komiyama,S. and Nishimoto,T.
TITLE Molecular cloning of a human cDNA encoding a novel protein, DAD1,
whose defect causes apoptotic cell death in hamster BHK21 cells
JOURNAL Mol. Cell. Biol. 13 (10), 6367-6374 (1993)
PUBMED 8413235
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP198316.1 and AK223129.1.
On Feb 23, 2008 this sequence version replaced gi:4503252.
Summary: DAD1, the defender against apoptotic cell death, was
initially identified as a negative regulator of programmed cell
death in the temperature sensitive tsBN7 cell line. The DAD1
protein disappeared in temperature-sensitive cells following a
shift to the nonpermissive temperature, suggesting that loss of the
DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly
associated subunit of oligosaccharyltransferase both in the intact
membrane and in the purified enzyme, thus reflecting the essential
nature of N-linked glycosylation in eukaryotes. [provided by
RefSeq, Jul 2008].
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 :: BI544480.1, BF312783.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-578 BP198316.1 1-578
579-711 AK223129.1 566-698
FEATURES Location/Qualifiers
source 1..711
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q11.2"
gene 1..711
/gene="DAD1"
/gene_synonym="OST2"
/note="defender against cell death 1"
/db_xref="GeneID:1603"
/db_xref="HGNC:2664"
/db_xref="HPRD:02589"
/db_xref="MIM:600243"
exon 1..291
/gene="DAD1"
/gene_synonym="OST2"
/inference="alignment:Splign:1.39.8"
variation 60
/gene="DAD1"
/gene_synonym="OST2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1051101"
variation 67
/gene="DAD1"
/gene_synonym="OST2"
/replace="c"
/replace="t"
/db_xref="dbSNP:5742731"
CDS 81..422
/gene="DAD1"
/gene_synonym="OST2"
/EC_number="2.4.99.18"
/note="oligosaccharyltransferase 2 homolog; DAD-1;
oligosaccharyl transferase subunit DAD1;
oligosaccharyltransferase subunit 2 (non-catalytic)"
/codon_start=1
/product="dolichyl-diphosphooligosaccharide--protein
glycosyltransferase subunit DAD1"
/protein_id="NP_001335.1"
/db_xref="GI:4503253"
/db_xref="CCDS:CCDS9571.1"
/db_xref="GeneID:1603"
/db_xref="HGNC:2664"
/db_xref="HPRD:02589"
/db_xref="MIM:600243"
/translation="
MSASVVSVISRFLEEYLSSTPQRLKLLDAYLLYILLTGALQFGYCLLVGTFPFNSFLSGFISCVGSFILAVCLRIQINPQNKADFQGISPERAFADFLFASTILHLVVMNFVG
"
misc_feature 84..419
/gene="DAD1"
/gene_synonym="OST2"
/note="DAD family; Region: DAD; pfam02109"
/db_xref="CDD:216878"
misc_feature 84..86
/gene="DAD1"
/gene_synonym="OST2"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylserine; propagated from
UniProtKB/Swiss-Prot (P61803.3); acetylation site"
misc_feature 84..86
/gene="DAD1"
/gene_synonym="OST2"
/experiment="experimental evidence, no additional details
recorded"
/note="acetylation site"
misc_feature 171..233
/gene="DAD1"
/gene_synonym="OST2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P61803.3);
transmembrane region"
misc_feature 237..299
/gene="DAD1"
/gene_synonym="OST2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P61803.3);
transmembrane region"
misc_feature 357..419
/gene="DAD1"
/gene_synonym="OST2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P61803.3);
transmembrane region"
variation 85
/gene="DAD1"
/gene_synonym="OST2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550455"
variation 143
/gene="DAD1"
/gene_synonym="OST2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:4736"
STS 144..253
/gene="DAD1"
/gene_synonym="OST2"
/standard_name="UniSTS:99121"
/db_xref="UniSTS:99121"
variation 199
/gene="DAD1"
/gene_synonym="OST2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550454"
variation 244
/gene="DAD1"
/gene_synonym="OST2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803480"
exon 292..466
/gene="DAD1"
/gene_synonym="OST2"
/inference="alignment:Splign:1.39.8"
variation 327
/gene="DAD1"
/gene_synonym="OST2"
/replace="a"
/replace="g"
/db_xref="dbSNP:5742796"
variation 421
/gene="DAD1"
/gene_synonym="OST2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1051154"
variation 423
/gene="DAD1"
/gene_synonym="OST2"
/replace="a"
/replace="c"
/db_xref="dbSNP:7621"
exon 467..697
/gene="DAD1"
/gene_synonym="OST2"
/inference="alignment:Splign:1.39.8"
variation 478
/gene="DAD1"
/gene_synonym="OST2"
/replace="c"
/replace="g"
/db_xref="dbSNP:14752"
STS 485..666
/gene="DAD1"
/gene_synonym="OST2"
/standard_name="HUM000S317"
/db_xref="UniSTS:38765"
variation 489
/gene="DAD1"
/gene_synonym="OST2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11550458"
STS 500..709
/gene="DAD1"
/gene_synonym="OST2"
/standard_name="SGC35549"
/db_xref="UniSTS:51913"
STS 500..690
/gene="DAD1"
/gene_synonym="OST2"
/standard_name="GDB:593795"
/db_xref="UniSTS:157972"
variation 514
/gene="DAD1"
/gene_synonym="OST2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1803479"
variation 666
/gene="DAD1"
/gene_synonym="OST2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1051189"
polyA_signal 673..678
/gene="DAD1"
/gene_synonym="OST2"
polyA_site 697
/gene="DAD1"
/gene_synonym="OST2"
ORIGIN
atgcgcaaacagcacatccggtgtggtcgacgggtcctccaagagtttggggcgcggactggagtaccttgcgtgcagttatgtcggcgtcggtagtgtctgtcatttcgcggttcttagaagagtacttgagctccactccgcagcgtctgaagttgctggacgcgtacctgctgtatatactgctgaccggggcgctgcagttcggttactgtctcctcgtggggaccttccccttcaactcttttctctcgggcttcatctcttgtgtggggagtttcatcctagcggtttgcctgagaatacagatcaacccacagaacaaagcggatttccaaggcatctccccagagcgagcctttgctgattttctctttgccagcaccatcctgcaccttgttgtcatgaactttgttggctgactcattctcatttacttaattgaggagtaggagactaaaagaatgttcactctttgaatttcctggataagagttctggagatggcagcttattggacacatggattttcttcagatttgcacttactgctagctctgctttttatgcaggagaaaagcccagagttcactgtgtgtcagaacaactttctaacaaacatttattaatccagcctctgcctttcattaaatgtaaccttttgccttccaaattaaagaactccatgccactcctcaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1603 -> Molecular function: GO:0004576 [oligosaccharyl transferase activity] evidence: ISS
GeneID:1603 -> Molecular function: GO:0004579 [dolichyl-diphosphooligosaccharide-protein glycotransferase activity] evidence: IC
GeneID:1603 -> Biological process: GO:0001824 [blastocyst development] evidence: IEA
GeneID:1603 -> Biological process: GO:0006486 [protein glycosylation] evidence: ISS
GeneID:1603 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:1603 -> Biological process: GO:0007584 [response to nutrient] evidence: IEA
GeneID:1603 -> Biological process: GO:0018279 [protein N-linked glycosylation via asparagine] evidence: IC
GeneID:1603 -> Biological process: GO:0018279 [protein N-linked glycosylation via asparagine] evidence: TAS
GeneID:1603 -> Biological process: GO:0042493 [response to drug] evidence: IEA
GeneID:1603 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA
GeneID:1603 -> Biological process: GO:0043687 [post-translational protein modification] evidence: TAS
GeneID:1603 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS
GeneID:1603 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
GeneID:1603 -> Cellular component: GO:0008250 [oligosaccharyltransferase complex] evidence: ISS
GeneID:1603 -> Cellular component: GO:0008250 [oligosaccharyltransferase complex] evidence: TAS
GeneID:1603 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001335 -> EC 2.4.1.119
NP_001335 -> EC 2.4.99.18
by
@meso_cacase at
DBCLS
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