LOCUS       NP_065104                362 aa            linear   PRI 27-APR-2025
DEFINITION  cell death regulator Aven [Homo sapiens].
ACCESSION   NP_065104
VERSION     NP_065104.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 362)
  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  (residues 1 to 362)
  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  (residues 1 to 362)
  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  (residues 1 to 362)
  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  (residues 1 to 362)
  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  (residues 1 to 362)
  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  (residues 1 to 362)
  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  (residues 1 to 362)
  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  (residues 1 to 362)
  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 (residues 1 to 362)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     Protein         1..362
                     /product="cell death regulator Aven"
                     /note="programmed cell death 12; apoptosis, caspase
                     activation inhibitor"
                     /calculated_mol_wt=38375
     Region          1..111
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS1.1)"
     Site            94
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS1.1)"
     Region          214..237
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS1.1)"
     Site            230
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS1.1)"
     Region          253..362
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS1.1)"
     CDS             1..362
                     /gene="AVEN"
                     /gene_synonym="PDCD12"
                     /coded_by="NM_020371.3:159..1247"
                     /db_xref="CCDS:CCDS10030.1"
                     /db_xref="GeneID:57099"
                     /db_xref="HGNC:HGNC:13509"
                     /db_xref="MIM:605265"
ORIGIN      
        1 mqaergargg rgrrpgrgrp ggdrhserpg aaaavarggg gggggdgggr rgrgrgrgfr
       61 garggrgggg aprgsrrepg gwgagasapv eddsdaetyg eendeqgnys krkivsnwdr
      121 yqdiekevnn esgesqrgtd fsvllssagd sfsqfrfaee kewdseascp kqnsafyvds
      181 ellvralqel plclrlnvaa elvqgtvple vpqvkpkrtd dgkglgmqlk gplgpggrgp
      241 ifelksvaag cpvllgkdnp spgpsrdsqk ptsplqsagd hleeeldlll nldapikegd
      301 nilpdqtsqd lkskedgevv qeeevcakps vteeknmepe qpstsknvte eeledwldsm
      361 is
//
