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2024-04-20 17:49:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024828 2833 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens caspase activity and apoptosis inhibitor 1 (CAAP1),
transcript variant 1, mRNA.
ACCESSION NM_024828
VERSION NM_024828.3 GI:262527222
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 2833)
AUTHORS Zhang,Y., Johansson,E., Miller,M.L., Janicke,R.U., Ferguson,D.J.,
Plas,D., Meller,J. and Anderson,M.W.
TITLE Identification of a conserved anti-apoptotic protein that modulates
the mitochondrial apoptosis pathway
JOURNAL PLoS ONE 6 (9), E25284 (2011)
PUBMED 21980415
REMARK GeneRIF: The data suggest that C9orf82 functions as an
anti-apoptotic protein that modulates a caspase-10 dependent
mitochondrial caspase-3/9 feedback amplification loop. It is
designated as Conserved Anti-Apoptotic Protein (CAAP).
REFERENCE 2 (bases 1 to 2833)
AUTHORS Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
and Wijmenga,C.
TITLE Coeliac disease-associated risk variants in TNFAIP3 and REL
implicate altered NF-kappaB signalling
JOURNAL Gut 58 (8), 1078-1083 (2009)
PUBMED 19240061
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 2833)
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 4 (bases 1 to 2833)
AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004)
PUBMED 15302935
REFERENCE 5 (bases 1 to 2833)
AUTHORS Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
Dunham,I.
TITLE DNA sequence and analysis of human chromosome 9
JOURNAL Nature 429 (6990), 369-374 (2004)
PUBMED 15164053
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BP228742.1, BC071953.1 and AF131768.1.
On Nov 6, 2009 this sequence version replaced gi:48976053.
Transcript Variant: This variant (1) encodes the longer isoform
(1).
##Evidence-Data-START##
Transcript exon combination :: BC071953.1, BC014658.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-101 BP228742.1 1-101
102-986 BC071953.1 1-885
987-2833 AF131768.1 120-1966
FEATURES Location/Qualifiers
source 1..2833
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p21.2"
gene 1..2833
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/note="caspase activity and apoptosis inhibitor 1"
/db_xref="GeneID:79886"
/db_xref="HGNC:25834"
exon 1..416
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/inference="alignment:Splign:1.39.8"
misc_feature 6..8
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/note="upstream in-frame stop codon"
CDS 114..1199
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/note="isoform 1 is encoded by transcript variant 1;
conserved anti-apoptotic protein"
/codon_start=1
/product="caspase activity and apoptosis inhibitor 1
isoform 1"
/protein_id="NP_079104.3"
/db_xref="GI:262527223"
/db_xref="CCDS:CCDS6516.1"
/db_xref="GeneID:79886"
/db_xref="HGNC:25834"
/translation="
MTGKKSSREKRRKRSSQEAAAALAAPDIVPALASGSSGSTSGCGSAGGCGSVSCCGNANFSGSVTGGGSGGSCWGGSSVERSERRKRRSTDSSSVSGSLQQETKYILPTLEKELFLAEHSDLEEGGLDLTVSLKPVSFYISDKKEMLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPEGLELKQGKGEDSDVLSINADAYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKALMKAGDIKKPA
"
misc_feature 720..722
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9H8G2.2); phosphorylation site"
misc_feature 1047..1049
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9H8G2.2); phosphorylation site"
variation 173
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:3739548"
variation 290
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:11545957"
variation 304
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:3739549"
variation 324
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:11545958"
exon 417..617
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/inference="alignment:Splign:1.39.8"
exon 618..702
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/inference="alignment:Splign:1.39.8"
exon 703..778
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/inference="alignment:Splign:1.39.8"
exon 779..852
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/inference="alignment:Splign:1.39.8"
exon 853..2815
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/inference="alignment:Splign:1.39.8"
variation 1472
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:11545956"
STS 2022..2220
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/standard_name="A007F33"
/db_xref="UniSTS:16693"
variation 2035
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/replace="a"
/replace="t"
/db_xref="dbSNP:374388162"
STS 2044..2180
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/standard_name="D9S2086"
/db_xref="UniSTS:10419"
STS 2437..2536
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/standard_name="WI-13926"
/db_xref="UniSTS:63472"
STS 2560..2813
/gene="CAAP1"
/gene_synonym="C9orf82; CAAP; RP11-337A23.1"
/standard_name="WI-21850"
/db_xref="UniSTS:28067"
ORIGIN
ggaagtgacgcataacctgcgacgccagtgcctgccgcccacggccgcaggagtcgggcttcggtcgcaccagagacagcggactttcctccgatggttgcagcagagggatcatgacggggaaaaagtcctcccgggagaaacggcgcaaacgtagcagtcaggaggcggccgcagcgctcgcggccccggacatcgtacccgcgttggccagcggcagcagtggaagcactagcggctgcgggagcgccgggggctgcgggagcgtcagctgctgtgggaacgccaattttagtggaagtgtcaccggcggtgggagcggcggcagctgttggggcgggagcagcgtggagcgcagcgagcgccggaagcggaggagtaccgactcttccagcgtctcgggctccttgcagcaggaaactaaatatattttgccaactttggaaaaagaattattcttggcagagcacagtgaccttgaagaaggtggactggacctgactgtgtcattgaaaccagttagtttctatatatcagacaaaaaagaaatgcttcagcagtgcttctgtattataggagagaaaaagttacagaagatgcttcctgatgtgttaaagaactgttcaatagaagaaattaaaaaactatgccaggaacagttagagctcctgtctgaaaaaaaaattttgaagattcttgagggtgacaatggaatggactctgatatggaagaggaagcagatgatggttctaagatgggatctgatttagtcagtcagcaagacatctgtatagattctgcttcatccgtgagagagaataagcaacctgaaggtttggaattaaaacaaggaaaaggggaagatagtgatgtactcagtataaatgcagatgcttatgacagcgacatagaaggcccatgcaacgaagaagcagctgctcccgaggcaccagaaaatacagtccaaagtgaagctggtcagatagatgacctggagaaagacattgagaaaagtgtgaatgagattctaggactggcagagtctagcccaaacgaacccaaagcagccaccctggctgttcctccaccagaagatgttcaaccttctgcacagcaactggagctgctagaacttgagatgagggcaagagcgattaaagccctaatgaaagctggtgatataaaaaagccagcctaggtatttaacttgattttgaattttaggtatgtttgaacaaagccacatcatttaattttgtatctaaaatttatttggggtcttatatgttatttctcatgtaacccttattaggactcattttagccctaaattacctgtggctgtttctttttatttttttgactacttttatattataaatgtgtgttactgtcttatgaattcatggcaatatagttggatagcctggatactttgttagatgagtatttagctgtgtctgcaaatcttaaaagccattagcaaagagtcgtggtatttttttctttatttttaaatgtttgggcaccaaacctaaaagcaaaagattgacgaagcatgtttctcttaaggctacttgtattttacaatacaatattaaattatttaatttgagaaatttagttttgcttatatgcactttttaaatatatactattttgaagattccttatgtaaatgcaaatttcctagttaaaaccgaataacagagatctgaaatgactgagaaaaacttttttattaaaggaaggaattaatttaaggcaatttttaactatgtagaactaattgcccatgtttaattatagcagacacgccattctaacaggtatttgataccattggatgcattattctaggttttttctttaataaaaatggaacaagttttcatttacattccaagctgtcaggaaatgaagaatattttattatctaggattttatctgatgtagttgcttaaagatctgatgtgctataattccatgaatcagaaataataaaatgctatcattctggatctgaagacttttgatactttttcaaaagcaaaattaatttcaggaacctttgataagttgttgttataattaatctaattttgtatagtttttgtaaataaattaccatccttccacaattagggatgcttttatccccccatcactaattgcagttgtttgataccaaaataaatttacgtagagatccttaacttaaaataaattaattttttcaaaaaacataaatctggaactgttgtttctatatttgataacaaatacagtatattttatttataagccatggtctactgatactgtatgaggactttccttatatataaaagttgcagggattgtgttttattagctgctttaattatgttaattttagagagtttttaaatggaaatagaggacatttatgaaacgctggaattgcagttacaaattctttttgttgttgttgttcctgaacatgccttggaataattctaccattttttccccctccataaatctttctaataaagcatagaaaaagcctatatgattttaaatgcttctcttaagctggtaaacagatttgagttatgagttcattgttattgcttcaagatgaaaagacagtgatataatttttctatttcaacttaaaagtaatagttaatatgctaaagtagtacagaataaactttattgctgcttactaactacaaaatactgtagatggcatctgtatgattaaacatataaagtaaaacaggtctgagggctttgtagatgattaaagtctccaccttcatgaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:79886 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
by
@meso_cacase at
DBCLS
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