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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:

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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