2024-03-29 21:16:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001167575 2987 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens caspase activity and apoptosis inhibitor 1 (CAAP1), transcript variant 2, mRNA. ACCESSION NM_001167575 VERSION NM_001167575.1 GI:262527224 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 2987) 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 2987) 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 2987) 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 2987) 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 2987) 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, BP374752.1, BC071953.1 and AF131768.1. Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon compared to variant 1, that causes a frameshift. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AK300739.1, AK301673.1 [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 1-63 BP228742.1 1-63 64-647 BP374752.1 1-584 648-1140 BC071953.1 393-885 1141-2987 AF131768.1 120-1966 FEATURES Location/Qualifiers source 1..2987 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p21.2" gene 1..2987 /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..570 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /inference="alignment:Splign:1.39.8" 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" variation 526 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /replace="c" /replace="t" /db_xref="dbSNP:3739550" misc_feature 562..564 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /note="upstream in-frame stop codon" exon 571..771 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /inference="alignment:Splign:1.39.8" CDS 703..1353 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /note="isoform 2 is encoded by transcript variant 2; conserved anti-apoptotic protein" /codon_start=1 /product="caspase activity and apoptosis inhibitor 1 isoform 2" /protein_id="NP_001161047.1" /db_xref="GI:262527225" /db_xref="CCDS:CCDS55299.1" /db_xref="GeneID:79886" /db_xref="HGNC:25834" /translation="
MLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPEGLELKQGKGEDSDVLSINADAYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKALMKAGDIKKPA
" exon 772..856 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /inference="alignment:Splign:1.39.8" exon 857..932 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /inference="alignment:Splign:1.39.8" exon 933..1006 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /inference="alignment:Splign:1.39.8" exon 1007..2969 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /inference="alignment:Splign:1.39.8" variation 1626 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /replace="c" /replace="t" /db_xref="dbSNP:11545956" STS 2176..2374 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /standard_name="A007F33" /db_xref="UniSTS:16693" variation 2189 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /replace="a" /replace="t" /db_xref="dbSNP:374388162" STS 2198..2334 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /standard_name="D9S2086" /db_xref="UniSTS:10419" STS 2591..2690 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /standard_name="WI-13926" /db_xref="UniSTS:63472" STS 2714..2967 /gene="CAAP1" /gene_synonym="C9orf82; CAAP; RP11-337A23.1" /standard_name="WI-21850" /db_xref="UniSTS:28067" ORIGIN
ggaagtgacgcataacctgcgacgccagtgcctgccgcccacggccgcaggagtcgggcttcggtcgcaccagagacagcggactttcctccgatggttgcagcagagggatcatgacggggaaaaagtcctcccgggagaaacggcgcaaacgtagcagtcaggaggcggccgcagcgctcgcggccccggacatcgtacccgcgttggccagcggcagcagtggaagcactagcggctgcgggagcgccgggggctgcgggagcgtcagctgctgtgggaacgccaattttagtggaagtgtcaccggcggtgggagcggcggcagctgttggggcgggagcagcgtggagcgcagcgagcgccggaagcggaggagtaccgactcttccagcgtctcgggctccttgcagcaggtgcgtgcgcgcccctctggccgcttcctggagctgctgctttttcggaagaagtcgggcttccagagggatggggcgcaggctggagctcactgctagcgcggcaatctcaaggtcgtccgtccttgaggttcatgttcctacctaagtcctggaaactaaatatattttgccaactttggaaaaagaattattcttggcagagcacagtgaccttgaagaaggtggactggacctgactgtgtcattgaaaccagttagtttctatatatcagacaaaaaagaaatgcttcagcagtgcttctgtattataggagagaaaaagttacagaagatgcttcctgatgtgttaaagaactgttcaatagaagaaattaaaaaactatgccaggaacagttagagctcctgtctgaaaaaaaaattttgaagattcttgagggtgacaatggaatggactctgatatggaagaggaagcagatgatggttctaagatgggatctgatttagtcagtcagcaagacatctgtatagattctgcttcatccgtgagagagaataagcaacctgaaggtttggaattaaaacaaggaaaaggggaagatagtgatgtactcagtataaatgcagatgcttatgacagcgacatagaaggcccatgcaacgaagaagcagctgctcccgaggcaccagaaaatacagtccaaagtgaagctggtcagatagatgacctggagaaagacattgagaaaagtgtgaatgagattctaggactggcagagtctagcccaaacgaacccaaagcagccaccctggctgttcctccaccagaagatgttcaaccttctgcacagcaactggagctgctagaacttgagatgagggcaagagcgattaaagccctaatgaaagctggtgatataaaaaagccagcctaggtatttaacttgattttgaattttaggtatgtttgaacaaagccacatcatttaattttgtatctaaaatttatttggggtcttatatgttatttctcatgtaacccttattaggactcattttagccctaaattacctgtggctgtttctttttatttttttgactacttttatattataaatgtgtgttactgtcttatgaattcatggcaatatagttggatagcctggatactttgttagatgagtatttagctgtgtctgcaaatcttaaaagccattagcaaagagtcgtggtatttttttctttatttttaaatgtttgggcaccaaacctaaaagcaaaagattgacgaagcatgtttctcttaaggctacttgtattttacaatacaatattaaattatttaatttgagaaatttagttttgcttatatgcactttttaaatatatactattttgaagattccttatgtaaatgcaaatttcctagttaaaaccgaataacagagatctgaaatgactgagaaaaacttttttattaaaggaaggaattaatttaaggcaatttttaactatgtagaactaattgcccatgtttaattatagcagacacgccattctaacaggtatttgataccattggatgcattattctaggttttttctttaataaaaatggaacaagttttcatttacattccaagctgtcaggaaatgaagaatattttattatctaggattttatctgatgtagttgcttaaagatctgatgtgctataattccatgaatcagaaataataaaatgctatcattctggatctgaagacttttgatactttttcaaaagcaaaattaatttcaggaacctttgataagttgttgttataattaatctaattttgtatagtttttgtaaataaattaccatccttccacaattagggatgcttttatccccccatcactaattgcagttgtttgataccaaaataaatttacgtagagatccttaacttaaaataaattaattttttcaaaaaacataaatctggaactgttgtttctatatttgataacaaatacagtatattttatttataagccatggtctactgatactgtatgaggactttccttatatataaaagttgcagggattgtgttttattagctgctttaattatgttaattttagagagtttttaaatggaaatagaggacatttatgaaacgctggaattgcagttacaaattctttttgttgttgttgttcctgaacatgccttggaataattctaccattttttccccctccataaatctttctaataaagcatagaaaaagcctatatgattttaaatgcttctcttaagctggtaaacagatttgagttatgagttcattgttattgcttcaagatgaaaagacagtgatataatttttctatttcaacttaaaagtaatagttaatatgctaaagtagtacagaataaactttattgctgcttactaactacaaaatactgtagatggcatctgtatgattaaacatataaagtaaaacaggtctgagggctttgtagatgattaaagtctccaccttcatgaaaaaaaaaaaaaaaaaaaa
//
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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