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2024-04-20 07:44:57, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004394 2385 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens death-associated protein (DAP), mRNA.
ACCESSION NM_004394
VERSION NM_004394.2 GI:149999367
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 2385)
AUTHORS Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
Vermeire,S., Barrett,J.C. and Cho,J.H.
CONSRTM International IBD Genetics Consortium (IIBDGC)
TITLE Host-microbe interactions have shaped the genetic architecture of
inflammatory bowel disease
JOURNAL Nature 491 (7422), 119-124 (2012)
PUBMED 23128233
REFERENCE 2 (bases 1 to 2385)
AUTHORS Anderson,C.A., Boucher,G., Lees,C.W., Franke,A., D'Amato,M.,
Taylor,K.D., Lee,J.C., Goyette,P., Imielinski,M., Latiano,A.,
Lagace,C., Scott,R., Amininejad,L., Bumpstead,S., Baidoo,L.,
Baldassano,R.N., Barclay,M., Bayless,T.M., Brand,S., Buning,C.,
Colombel,J.F., Denson,L.A., De Vos,M., Dubinsky,M., Edwards,C.,
Ellinghaus,D., Fehrmann,R.S., Floyd,J.A., Florin,T.,
Franchimont,D., Franke,L., Georges,M., Glas,J., Glazer,N.L.,
Guthery,S.L., Haritunians,T., Hayward,N.K., Hugot,J.P., Jobin,G.,
Laukens,D., Lawrance,I., Lemann,M., Levine,A., Libioulle,C.,
Louis,E., McGovern,D.P., Milla,M., Montgomery,G.W., Morley,K.I.,
Mowat,C., Ng,A., Newman,W., Ophoff,R.A., Papi,L., Palmieri,O.,
Peyrin-Biroulet,L., Panes,J., Phillips,A., Prescott,N.J.,
Proctor,D.D., Roberts,R., Russell,R., Rutgeerts,P., Sanderson,J.,
Sans,M., Schumm,P., Seibold,F., Sharma,Y., Simms,L.A.,
Seielstad,M., Steinhart,A.H., Targan,S.R., van den Berg,L.H.,
Vatn,M., Verspaget,H., Walters,T., Wijmenga,C., Wilson,D.C.,
Westra,H.J., Xavier,R.J., Zhao,Z.Z., Ponsioen,C.Y., Andersen,V.,
Torkvist,L., Gazouli,M., Anagnou,N.P., Karlsen,T.H., Kupcinskas,L.,
Sventoraityte,J., Mansfield,J.C., Kugathasan,S., Silverberg,M.S.,
Halfvarson,J., Rotter,J.I., Mathew,C.G., Griffiths,A.M., Gearry,R.,
Ahmad,T., Brant,S.R., Chamaillard,M., Satsangi,J., Cho,J.H.,
Schreiber,S., Daly,M.J., Barrett,J.C., Parkes,M., Annese,V.,
Hakonarson,H., Radford-Smith,G., Duerr,R.H., Vermeire,S.,
Weersma,R.K. and Rioux,J.D.
TITLE Meta-analysis identifies 29 additional ulcerative colitis risk
loci, increasing the number of confirmed associations to 47
JOURNAL Nat. Genet. 43 (3), 246-252 (2011)
PUBMED 21297633
REMARK Erratum:[Nat Genet. 2011 Sep;43(9):919]
REFERENCE 3 (bases 1 to 2385)
AUTHORS Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
Snippe,H., Hibberd,M.L. and Seielstad,M.
TITLE New genetic associations detected in a host response study to
hepatitis B vaccine
JOURNAL Genes Immun. 11 (3), 232-238 (2010)
PUBMED 20237496
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 2385)
AUTHORS Zougman,A. and Wisniewski,J.R.
TITLE Beyond linker histones and high mobility group proteins: global
profiling of perchloric acid soluble proteins
JOURNAL J. Proteome Res. 5 (4), 925-934 (2006)
PUBMED 16602700
REFERENCE 5 (bases 1 to 2385)
AUTHORS Levy-Strumpf,N. and Kimchi,A.
TITLE Death associated proteins (DAPs): from gene identification to the
analysis of their apoptotic and tumor suppressive functions
JOURNAL Oncogene 17 (25), 3331-3340 (1998)
PUBMED 9916995
REMARK Review article
REFERENCE 6 (bases 1 to 2385)
AUTHORS Feinstein,E., Druck,T., Kastury,K., Berissi,H., Goodart,S.A.,
Overhauser,J., Kimchi,A. and Huebner,K.
TITLE Assignment of DAP1 and DAPK--genes that positively mediate
programmed cell death triggered by IFN-gamma--to chromosome regions
5p12.2 and 9q34.1, respectively
JOURNAL Genomics 29 (1), 305-307 (1995)
PUBMED 8530096
REFERENCE 7 (bases 1 to 2385)
AUTHORS Deiss,L.P., Feinstein,E., Berissi,H., Cohen,O. and Kimchi,A.
TITLE Identification of a novel serine/threonine kinase and a novel 15-kD
protein as potential mediators of the gamma interferon-induced cell
death
JOURNAL Genes Dev. 9 (1), 15-30 (1995)
PUBMED 7828849
REFERENCE 8 (bases 1 to 2385)
AUTHORS Belokrylov,G.A. and Zhitnukhin,Iu.L.
TITLE [Effect of antibodies to rat and human cerebral cortex and white
matter on heterologous T- and B-cells]
JOURNAL Zh. Mikrobiol. Epidemiol. Immunobiol. 9, 66-70 (1976)
PUBMED 1087798
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC395850.1, BP265421.1 and
BC002726.2.
This sequence is a reference standard in the RefSeqGene project.
On Jun 28, 2007 this sequence version replaced gi:4758119.
Summary: This gene encodes a basic, proline-rich, 15-kD protein.
The protein acts as a positive mediator of programmed cell death
that is induced by interferon-gamma. [provided by RefSeq, Jul
2008].
##Evidence-Data-START##
Transcript exon combination :: BC002726.2, X76105.1 [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
1-205 DC395850.1 1-205
206-612 BP265421.1 167-573
613-2385 BC002726.2 570-2342
FEATURES Location/Qualifiers
source 1..2385
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5p15.2"
gene 1..2385
/gene="DAP"
/note="death-associated protein"
/db_xref="GeneID:1611"
/db_xref="HGNC:2672"
/db_xref="HPRD:02977"
/db_xref="MIM:600954"
exon 1..262
/gene="DAP"
/inference="alignment:Splign:1.39.8"
misc_feature 133..135
/gene="DAP"
/note="upstream in-frame stop codon"
variation 206
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:267927"
CDS 208..516
/gene="DAP"
/note="DAP-1"
/codon_start=1
/product="death-associated protein 1"
/protein_id="NP_004385.1"
/db_xref="GI:4758120"
/db_xref="CCDS:CCDS3880.1"
/db_xref="GeneID:1611"
/db_xref="HGNC:2672"
/db_xref="HPRD:02977"
/db_xref="MIM:600954"
/translation="
MSSPPEGKLETKAGHPPAVKAGGMRIVQKHPHTGDTKEEKDKDDQEWESPSPPKPTVFISGVIARGDKDFPPAAAQVAHQKPHASMDKHPSPRTQHIQQPRK
"
misc_feature 211..213
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylserine; propagated from
UniProtKB/Swiss-Prot (P51397.3); acetylation site"
misc_feature 214..216
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by MTOR; propagated from
UniProtKB/Swiss-Prot (P51397.3); phosphorylation site"
misc_feature 352..354
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P51397.3); phosphorylation site"
misc_feature 352..354
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 358..360
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by MTOR; propagated from
UniProtKB/Swiss-Prot (P51397.3); phosphorylation site"
misc_feature 358..360
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 385..387
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 478..480
/gene="DAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P51397.3); phosphorylation site"
exon 263..359
/gene="DAP"
/inference="alignment:Splign:1.39.8"
exon 360..402
/gene="DAP"
/inference="alignment:Splign:1.39.8"
exon 403..2342
/gene="DAP"
/inference="alignment:Splign:1.39.8"
variation 564
/gene="DAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:5745295"
variation 574
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745296"
variation 687
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745297"
variation 935
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:10271"
STS 1111..1445
/gene="DAP"
/standard_name="D5S2480"
/db_xref="UniSTS:31973"
variation 1197
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:1049344"
STS 1254..1533
/gene="DAP"
/standard_name="D5S2772"
/db_xref="UniSTS:473840"
variation 1358
/gene="DAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:5745298"
variation 1409
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745299"
variation 1621
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745300"
variation 1701
/gene="DAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:200167999"
variation 1911
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745301"
variation 1912
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745302"
variation 1933..1934
/gene="DAP"
/replace=""
/replace="c"
/db_xref="dbSNP:200269369"
variation 1934
/gene="DAP"
/replace=""
/replace="c"
/db_xref="dbSNP:79983010"
variation 1938
/gene="DAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:7973"
variation 2050
/gene="DAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745304"
variation 2240
/gene="DAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:5745305"
polyA_signal 2304..2309
/gene="DAP"
polyA_signal 2318..2323
/gene="DAP"
polyA_site 2323
/gene="DAP"
polyA_site 2342
/gene="DAP"
ORIGIN
ctcggctgcgccacgtcggcgcgcggcggccgcgcccccttaacggcagtggcactcacccggctcgcgcggccccggcgccccacgcgcgcgcgtcgttctcccgcccgctcgctccccggcgctcacacctgagctcactcgcgcacgcccgcccggcccgagaaccgcgccgccgcctcggccccgcggaagccccgccgcgtcatgtcttcgcctcccgaagggaaactagagactaaagctggacacccgcccgccgtgaaagctggtggaatgcgaattgtgcagaaacacccacatacaggagacaccaaagaagagaaagacaaggatgaccaggaatgggaaagccccagtccacctaaacccactgtgttcatctctggggtcatcgcccggggtgacaaagatttccccccggcggctgcgcaggtggctcaccagaagccgcatgcctccatggacaagcatccttccccaagaacccagcacatccagcagccacgcaagtgagcctggagtccaccagcctgccccatggccccggctctgctgcacttggtatttccctgacagagagaaccagcagtttcgcccaaatcctactctgctgggaaatctaaggcaaaaccaagtgctctgtcctttgccttacatttccatatttaaaactagaaacagctccagcccaaaccttgtttatggggagtctggttggatgtcatttgaggatcattgtgcccctagaggtgccattagcagaatttgccaagatccgagaaaaattttagctttagttctatttcagcagtcacctgacgtccttgtctatggtcttaaaaacaagaaggcacacatttgagaagatgagattaaggttaggagaaaacctcagtcattgcatgctttttagtatgggccaataaaatctcaacacctgtgggagagtaagaactaagggaatgagtttgggcggcccctcataaaggaccttagaggcagggaacagcaatgccaaatttccctctctcgtgagatgggggatcctgtgcaggctgatgaggcacccatgagaaaagccgaaaaagcatgcatcttagaaatagcccctcaattccaggagtcaacatgccaaagaatgaggctggagacaggtagctccgagggaggacttctggcatgagatctcggcacggcaagcccagcatcgcctcagcccagacaggctccaccaggagatcaagcaagggctgcctttcaggagtcacctcctgagccacttcagagttctggaagtgaccacggaccagggtggaggaatagacttctagttcattctgggacacttgagccagagagttgaaagcttggaaagaccagataagaaacctgccctttgtctccctagggacatgagacaccacattccatttgtgctagaaaaacctatccactgatgagtctaactgttccaaacgcctcccacctggtgtgcacagctgcctgggtccattgtcacttgggtgcatcaggttgtcctccgatttttagatgagtttcctgtctagagatgtcctagtctgctcactggctggtggcagtagggtaccctgcgtcctcgaaaagccagagggttcacctagtcagacgaaactccagaacagtgcttgtggagggcctgactgtcctgctcacccacagccgatctgctgcaggtcagcaactgtgtcgtgagcagctgccaaccaccagcctttctggtgctgttctccagttcacgtctgccagctggtgagggcagaggcagacctggtcagacccagcgcccctcctccctgagggagcatggcacagcctcacacttgaaagacggtgtttggtttcccatctaatcaacttaagggaagccggcatgtacccttcaaggccctgtcaccacctatttcctgatcagttggtataaactgagggtggcttttagagacccagacttggttggcagcgctgccatggaacaccccagcaagcacctcccagcctgcctttcggagcagcacccaggaggggatgccgcgctccagcaacaccaggtcaggcctgtgcagacccctgccctgccgctgcagaaatccagaagcatccttaatgcttctcagtcttcagccagagggagggctgttatttccagaggtgcgctttttatgtacttttagctagatgtggcatgcatctgtgagctttagatcattaaatccaaaatgtttgcctaaatgagtttatcagttgttaacttcaagaatattaaatgatttataataaagctcctgcatttctctccaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1611 -> Molecular function: GO:0070513 [death domain binding] evidence: IPI
GeneID:1611 -> Biological process: GO:0006914 [autophagy] evidence: IEA
GeneID:1611 -> Biological process: GO:0006915 [apoptotic process] evidence: IGI
GeneID:1611 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IMP
GeneID:1611 -> Biological process: GO:0010507 [negative regulation of autophagy] evidence: IMP
GeneID:1611 -> Biological process: GO:0032088 [negative regulation of NF-kappaB transcription factor activity] evidence: IMP
GeneID:1611 -> Biological process: GO:0034198 [cellular response to amino acid starvation] evidence: IDA
GeneID:1611 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IMP
GeneID:1611 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: IMP
by
@meso_cacase at
DBCLS
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