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2024-04-19 13:35:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001017920 551 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens death associated protein-like 1 (DAPL1), mRNA.
ACCESSION NM_001017920 XM_043500
VERSION NM_001017920.2 GI:217272871
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 551)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 2 (bases 1 to 551)
AUTHORS Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
Schreiber,S. and Nebel,A.
TITLE Investigation of genetic susceptibility factors for human longevity
- a targeted nonsynonymous SNP study
JOURNAL Mutat. Res. 694 (1-2), 13-19 (2010)
PUBMED 20800603
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 551)
AUTHORS Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
Bouffard,G., Smith,D. and Peterson,K.
TITLE Expressed sequence tag analysis of adult human lens for the NEIBank
Project: over 2000 non-redundant transcripts, novel genes and
splice variants
JOURNAL Mol. Vis. 8, 171-184 (2002)
PUBMED 12107413
REMARK Publication Status: Online-Only
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AY324399.1, BC127683.1, CD675155.1, AC079877.5 and AF086541.1.
On Dec 11, 2008 this sequence version replaced gi:62988347.
##Evidence-Data-START##
Transcript exon combination :: AY324399.1, BQ189090.1 [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
1-15 AY324399.1 1-15
16-430 BC127683.1 1-415
431-488 CD675155.1 410-467
489-489 AC079877.5 81645-81645
490-551 AF086541.1 478-539
FEATURES Location/Qualifiers
source 1..551
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q24.1"
gene 1..551
/gene="DAPL1"
/note="death associated protein-like 1"
/db_xref="GeneID:92196"
/db_xref="HGNC:21490"
exon 1..114
/gene="DAPL1"
/inference="alignment:Splign:1.39.8"
variation 46
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202044150"
CDS 57..380
/gene="DAPL1"
/note="early epithelial differentiation-associated
protein"
/codon_start=1
/product="death-associated protein-like 1"
/protein_id="NP_001017920.2"
/db_xref="GI:217272872"
/db_xref="CCDS:CCDS33307.1"
/db_xref="GeneID:92196"
/db_xref="HGNC:21490"
/translation="
MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTGFEKTSAIANVAKIQTLDALNDALEKLNYKFPATVHMAHQKPTPALEKVVPLKRIYIIQQPRKC
"
variation 69
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138581432"
variation 78
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:192531216"
variation 90
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139771414"
variation 98
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184869673"
variation 101
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147462621"
exon 115..202
/gene="DAPL1"
/inference="alignment:Splign:1.39.8"
variation 126
/gene="DAPL1"
/replace="g"
/replace="t"
/db_xref="dbSNP:202072864"
variation 156
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141632212"
variation 189
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370486613"
variation 191
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:17810398"
variation 192
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374568975"
exon 203..263
/gene="DAPL1"
/inference="alignment:Splign:1.39.8"
variation 231
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143799179"
variation 235
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:9869"
variation 237
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145213097"
variation 244
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371406477"
variation 251
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149042644"
variation 252
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12535"
variation 253
/gene="DAPL1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200074841"
exon 264..544
/gene="DAPL1"
/inference="alignment:Splign:1.39.8"
STS 289..459
/gene="DAPL1"
/standard_name="SHGC-58490"
/db_xref="UniSTS:94365"
variation 298
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61740880"
variation 299
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61740878"
variation 329
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201479663"
variation 334
/gene="DAPL1"
/replace="a"
/replace="t"
/db_xref="dbSNP:143762365"
variation 362
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374910452"
variation 369
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138143887"
variation 418
/gene="DAPL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201038370"
variation 435
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117655828"
variation 441
/gene="DAPL1"
/replace="a"
/replace="c"
/db_xref="dbSNP:79135131"
variation 445
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117095983"
variation 464
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141928198"
variation 489
/gene="DAPL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:10016"
ORIGIN
acagctggcattcagcctccagagcaccagcactggcactggcactggcacacgctatggcaaatgaagtgcaagacctgctctcccctcggaaagggggacatcctcctgcagtaaaagctggaggaatgagaatttccaaaaaacaagaaattggcaccttggaaagacataccaaaaaaacaggattcgagaaaacaagtgccattgcaaatgttgccaaaatacagacactggatgccctgaatgacgcactggagaagctcaactataaatttccagcaacagtgcacatggcgcatcaaaaacccacacctgctctggaaaaggttgttccactgaaaaggatctacattattcagcagcctcgaaaatgttaagcctggatttaaaacacagccgtctggccagctgcctcgaatatctgacagcttagcaaaaagggccaaagctttccataggcgtgctgcacttgcttggtaaattaagcagcttttgtatcttcccctttgactttaggtaataaagcatccaaacttgtaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:92196 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:92196 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA
by
@meso_cacase at
DBCLS
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