LOCUS       NM_020371               1633 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens apoptosis and caspase activation inhibitor (AVEN),
            mRNA.
ACCESSION   NM_020371
VERSION     NM_020371.3
KEYWORDS    RefSeq; MANE Select.
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 1633)
  AUTHORS   Yu,P., Song,S., Zhang,X., Cui,S., Wei,G., Huang,Z., Zeng,L., Ni,T.
            and Sun,A.
  TITLE     Downregulation of apoptotic repressor AVEN exacerbates cardiac
            injury after myocardial infarction
  JOURNAL   Proc Natl Acad Sci U S A 120 (42), e2302482120 (2023)
   PUBMED   37816050
  REMARK    GeneRIF: Downregulation of apoptotic repressor AVEN exacerbates
            cardiac injury after myocardial infarction.
REFERENCE   2  (bases 1 to 1633)
  AUTHORS   Gu,F., Lu,D. and Zhang,L.
  TITLE     MicroRNA-30a contributes to pre-eclampsia through regulating the
            proliferation, apoptosis, and angiogenesis modulation potential of
            mesenchymal stem cells by targeting AVEN
  JOURNAL   Bioengineered 13 (4), 8724-8734 (2022)
   PUBMED   35322749
  REMARK    GeneRIF: MicroRNA-30a contributes to pre-eclampsia through
            regulating the proliferation, apoptosis, and angiogenesis
            modulation potential of mesenchymal stem cells by targeting AVEN.
REFERENCE   3  (bases 1 to 1633)
  AUTHORS   Zhang,L. and Jia,X.
  TITLE     Down-regulation of miR-30b-5p protects cardiomyocytes against
            hypoxia-induced injury by targeting Aven
  JOURNAL   Cell Mol Biol Lett 24, 61 (2019)
   PUBMED   31768184
  REMARK    GeneRIF: MiR-30b-5p expression was found to be significantly
            upregulated in hypoxic cardiomyocytes, AC16 cells. The in vitro
            experiments showed that downregulation of miR-30b-5p effectively
            alleviated hypoxia-induced cardiomyocyte injury. Aven is a
            potential target gene of miR-30b-5p and its downregulation could
            partially reverse the influence of miR-30b-5p knockdown on AC16
            cells under hypoxia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1633)
  AUTHORS   O'Doherty,A.M., O'Brien,Y.M., Browne,J.A., Wingfield,M. and
            O'Shea,L.C.
  TITLE     Expression of granulosa cell microRNAs, AVEN and ATRX are
            associated with human blastocyst development
  JOURNAL   Mol Reprod Dev 85 (11), 836-848 (2018)
   PUBMED   29693772
  REMARK    GeneRIF: Expression of granulosa cell microRNAs, AVEN and ATRX are
            associated with human blastocyst development.
REFERENCE   5  (bases 1 to 1633)
  AUTHORS   Chakrabarti,M., Klionsky,D.J. and Ray,S.K.
  TITLE     miR-30e Blocks Autophagy and Acts Synergistically with
            Proanthocyanidin for Inhibition of AVEN and BIRC6 to Increase
            Apoptosis in Glioblastoma Stem Cells and Glioblastoma SNB19 Cells
  JOURNAL   PLoS One 11 (7), e0158537 (2016)
   PUBMED   27388765
  REMARK    GeneRIF: AVEN and BIRC6 are inhibited by combination therapy of
            miR-30e and proanthocyanidin in glioblastoma stem cells
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1633)
  AUTHORS   Sugarbaker,D.J., Richards,W.G., Gordon,G.J., Dong,L., De Rienzo,A.,
            Maulik,G., Glickman,J.N., Chirieac,L.R., Hartman,M.L.,
            Taillon,B.E., Du,L., Bouffard,P., Kingsmore,S.F., Miller,N.A.,
            Farmer,A.D., Jensen,R.V., Gullans,S.R. and Bueno,R.
  TITLE     Transcriptome sequencing of malignant pleural mesothelioma tumors
  JOURNAL   Proc Natl Acad Sci U S A 105 (9), 3521-3526 (2008)
   PUBMED   18303113
  REMARK    GeneRIF: point mutation observed by transcriptome sequencing of
            malignant pleural mesothelioma tumors
REFERENCE   7  (bases 1 to 1633)
  AUTHORS   Choi,J., Hwang,Y.K., Sung,K.W., Kim,D.H., Yoo,K.H., Jung,H.L. and
            Koo,H.H.
  TITLE     Aven overexpression: association with poor prognosis in childhood
            acute lymphoblastic leukemia
  JOURNAL   Leuk Res 30 (8), 1019-1025 (2006)
   PUBMED   16388850
  REMARK    GeneRIF: Aven expression was found to be higher in patients >or=10
            years old or <1 year, and with unfavorable cytogenetic
            abnormalities. It was also significantly higher in relapsed
            patients in the standard-risk group and an independent poor
            prognostic factor.
REFERENCE   8  (bases 1 to 1633)
  AUTHORS   Barrios-Rodiles,M., Brown,K.R., Ozdamar,B., Bose,R., Liu,Z.,
            Donovan,R.S., Shinjo,F., Liu,Y., Dembowy,J., Taylor,I.W., Luga,V.,
            Przulj,N., Robinson,M., Suzuki,H., Hayashizaki,Y., Jurisica,I. and
            Wrana,J.L.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   9  (bases 1 to 1633)
  AUTHORS   Ballif,B.A., Villen,J., Beausoleil,S.A., Schwartz,D. and Gygi,S.P.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   10 (bases 1 to 1633)
  AUTHORS   Chau,B.N., Cheng,E.H., Kerr,D.A. and Hardwick,J.M.
  TITLE     Aven, a novel inhibitor of caspase activation, binds Bcl-xL and
            Apaf-1
  JOURNAL   Mol Cell 6 (1), 31-40 (2000)
   PUBMED   10949025
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC069045.11, BU855198.1, BC010488.1 and BC063533.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020371.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF283508.1, SRR1163655.595169.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467150, SAMN03267750
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306730.8/ ENSP00000306822.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-102               AC069045.11        109502-109603       c
            103-108             BU855198.1         75-80
            109-1631            BC010488.1         1-1523
            1632-1633           BC063533.1         1514-1515
FEATURES             Location/Qualifiers
     source          1..1633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..1633
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /note="apoptosis and caspase activation inhibitor"
                     /db_xref="GeneID:57099"
                     /db_xref="HGNC:HGNC:13509"
                     /db_xref="MIM:605265"
     exon            1..425
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1247
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /note="programmed cell death 12; apoptosis, caspase
                     activation inhibitor"
                     /codon_start=1
                     /product="cell death regulator Aven"
                     /protein_id="NP_065104.1"
                     /db_xref="CCDS:CCDS10030.1"
                     /db_xref="GeneID:57099"
                     /db_xref="HGNC:HGNC:13509"
                     /db_xref="MIM:605265"
                     /translation="MQAERGARGGRGRRPGRGRPGGDRHSERPGAAAAVARGGGGGGG
                     GDGGGRRGRGRGRGFRGARGGRGGGGAPRGSRREPGGWGAGASAPVEDDSDAETYGEE
                     NDEQGNYSKRKIVSNWDRYQDIEKEVNNESGESQRGTDFSVLLSSAGDSFSQFRFAEE
                     KEWDSEASCPKQNSAFYVDSELLVRALQELPLCLRLNVAAELVQGTVPLEVPQVKPKR
                     TDDGKGLGMQLKGPLGPGGRGPIFELKSVAAGCPVLLGKDNPSPGPSRDSQKPTSPLQ
                     SAGDHLEEELDLLLNLDAPIKEGDNILPDQTSQDLKSKEDGEVVQEEEVCAKPSVTEE
                     KNMEPEQPSTSKNVTEEELEDWLDSMIS"
     exon            426..603
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /inference="alignment:Splign:2.1.0"
     exon            604..674
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /inference="alignment:Splign:2.1.0"
     exon            675..770
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /inference="alignment:Splign:2.1.0"
     exon            771..1131
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1633
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1610..1615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /note="hexamer: AATAAA"
     polyA_site      1633
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /note="major polyA site"
ORIGIN      
        1 gctgcggccg gcctcgatcc ctagccccgc accccgcgcc tcgctgctac cgggcgcctt
       61 tcgctcgcgg ctcctccgtg cggcccgctt ccggtggggc cagggcgtct ccgccgcagc
      121 tcggctcccg cgcgctcagc accgccagcg gcggccagat gcaggcggag cgaggagctc
      181 ggggaggccg tgggcggcgg ccaggccgcg gccggcctgg cggagatcgc cacagcgagc
      241 ggcccggagc cgcagcggcg gtagccagag gcggcggcgg aggcggcggc ggggacggag
      301 gcggacgccg gggccgtggc cgtggccggg gcttccgcgg cgctcgcgga ggccgaggag
      361 gaggaggcgc cccgcgaggc agccgccggg agccgggagg ctggggcgca ggggccagcg
      421 cgccggttga agatgacagc gatgcagaga cctatggaga agagaatgat gaacagggaa
      481 attattctaa aagaaagatt gtctctaact gggatcgata tcaagatatt gaaaaagagg
      541 tcaataatga aagtggagag tcacagaggg gaacagattt cagtgtcctc cttagctctg
      601 caggggactc attctcacag ttccggtttg ctgaggagaa agaatgggat agtgaagctt
      661 cttgtccaaa acagaattca gcattttatg tggatagtga gttattggtt cgagcccttc
      721 aagagctgcc tctctgcctc cgactcaacg ttgctgccga actggtccag ggtacagttc
      781 ctttagaggt tcctcaggtg aaaccaaaga gaactgatga tggcaaggga ttagggatgc
      841 agttaaaggg gcccttgggg cctggaggaa gggggcccat ctttgagctg aaatctgtgg
      901 ctgctggctg ccctgtgttg ctgggcaaag acaacccaag cccgggtcct tcaagggatt
      961 ctcagaaacc cacttcccca ctgcagtcag caggagacca tttggaagaa gaactagatc
     1021 tgttgcttaa tttagatgca cctataaaag agggagataa catcttacca gatcagacgt
     1081 ctcaggacct gaaatccaag gaagatgggg aggtggtcca agaggaagaa gtttgtgcaa
     1141 aaccatctgt gactgaagaa aaaaacatgg aacctgagca accaagtacc tccaaaaatg
     1201 ttaccgagga agagctggaa gactggttgg acagcatgat ttcctaaaaa ggggaaaaaa
     1261 agtgcctgaa gcaaatcttg gttgccttct aacggcaggt gggcataagg ctgtccttca
     1321 ggaccagcca gtttacaagc atgtctcaag ctagtgtgtt ccattatgct cacagcagta
     1381 aatgcctacc tctgtgtttg acatctgaaa gaatacattg aagcagcttg ttgcatttgt
     1441 ttttctggct tagtaatcta atagatttcc ttaagggcag gagatagact ctggcccttg
     1501 tttctagcct ccttccttgc agtgtttaca acatagccag tgtttacagc atagcagatg
     1561 ctgctgctga ttaagagaat agatgcaaac aaggcatgca tttggccaaa ataaacaaat
     1621 gctggtctgt cca
//
