LOCUS       NM_007217               2133 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens programmed cell death 10 (PDCD10), transcript variant
            1, mRNA.
ACCESSION   NM_007217
VERSION     NM_007217.4
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 2133)
  AUTHORS   Li,Y., Liu,Y., Liu,K., Tao,T., Yang,L., Liu,R., Zhou,H., Liang,D.,
            Zhang,Y., Huang,D. and Sun,Y.
  TITLE     Study on the role of CCM3 gene and lead exposure induced
            neurotoxicity through neurovascular units
  JOURNAL   Ecotoxicol Environ Saf 277, 116269 (2024)
   PUBMED   38657460
  REMARK    GeneRIF: Study on the role of CCM3 gene and lead exposure induced
            neurotoxicity through neurovascular units.
REFERENCE   2  (bases 1 to 2133)
  AUTHORS   da Fontoura Galvao,G., da Silva,E.V., Trefilio,L.M.,
            Alves-Leon,S.V., Fontes-Dantas,F.L. and de Souza,J.M.
  TITLE     Comprehensive CCM3 Mutational Analysis in Two Patients with
            Syndromic Cerebral Cavernous Malformation
  JOURNAL   Transl Stroke Res 15 (2), 411-421 (2024)
   PUBMED   36723700
  REMARK    GeneRIF: Comprehensive CCM3 Mutational Analysis in Two Patients
            with Syndromic Cerebral Cavernous Malformation.
REFERENCE   3  (bases 1 to 2133)
  AUTHORS   Tang,L., Zhou,M., Xu,Y., Peng,B., Gao,Y. and Mo,Y.
  TITLE     Knockdown of CCM3 promotes angiogenesis through activation and
            nuclear translocation of YAP/TAZ
  JOURNAL   Biochem Biophys Res Commun 701, 149525 (2024)
   PUBMED   38320423
  REMARK    GeneRIF: Knockdown of CCM3 promotes angiogenesis through activation
            and nuclear translocation of YAP/TAZ.
REFERENCE   4  (bases 1 to 2133)
  AUTHORS   Ni,W.J. and Leng,X.M.
  TITLE     Programmed cell death 10 can be used as a potential biomarker for
            ankylosing spondylitis diagnosis and treatment
  JOURNAL   Spinal Cord 62 (3), 99-103 (2024)
   PUBMED   38158408
  REMARK    GeneRIF: Programmed cell death 10 can be used as a potential
            biomarker for ankylosing spondylitis diagnosis and treatment.
REFERENCE   5  (bases 1 to 2133)
  AUTHORS   Liu,J., Wang,J., Tian,W., Xu,Y., Li,R., Zhao,K., You,C., Zhu,Y.,
            Bartsch,J.W., Niu,H., Zhang,H., Shu,K. and Lei,T.
  TITLE     PDCD10 promotes the aggressive behaviors of pituitary adenomas by
            up-regulating CXCR2 and activating downstream AKT/ERK signaling
  JOURNAL   Aging (Albany NY) 14 (15), 6066-6080 (2022)
   PUBMED   35963638
  REMARK    GeneRIF: PDCD10 promotes the aggressive behaviors of pituitary
            adenomas by up-regulating CXCR2 and activating downstream AKT/ERK
            signaling.
REFERENCE   6  (bases 1 to 2133)
  AUTHORS   Guclu,B., Ozturk,A.K., Pricola,K.L., Bilguvar,K., Shin,D.,
            O'Roak,B.J. and Gunel,M.
  TITLE     Mutations in apoptosis-related gene, PDCD10, cause cerebral
            cavernous malformation 3
  JOURNAL   Neurosurgery 57 (5), 1008-1013 (2005)
   PUBMED   16284570
  REMARK    GeneRIF: Mutations in apoptosis-related gene, PDCD10, cause
            cerebral cavernous malformation 3.
REFERENCE   7  (bases 1 to 2133)
  AUTHORS   Guclu,B., Ozturk,A.K., Pricola,K.L., Seker,A., Ozek,M. and Gunel,M.
  TITLE     Cerebral venous malformations have distinct genetic origin from
            cerebral cavernous malformations
  JOURNAL   Stroke 36 (11), 2479-2480 (2005)
   PUBMED   16239636
  REMARK    GeneRIF: KRIT1, Malcavernin, and PDCD10 are differentially
            expressed in cerebral venous malformations and cerebral cavernous
            malformations
REFERENCE   8  (bases 1 to 2133)
  AUTHORS   Bergametti,F., Denier,C., Labauge,P., Arnoult,M., Boetto,S.,
            Clanet,M., Coubes,P., Echenne,B., Ibrahim,R., Irthum,B.,
            Jacquet,G., Lonjon,M., Moreau,J.J., Neau,J.P., Parker,F.,
            Tremoulet,M. and Tournier-Lasserve,E.
  CONSRTM   Societe Francaise de Neurochirurgie
  TITLE     Mutations within the programmed cell death 10 gene cause cerebral
            cavernous malformations
  JOURNAL   Am J Hum Genet 76 (1), 42-51 (2005)
   PUBMED   15543491
  REMARK    GeneRIF: We report herein the identification of PDCD10 (programmed
            cell death 10) as the CCM3 gene.
REFERENCE   9  (bases 1 to 2133)
  AUTHORS   Craig,H.D., Gunel,M., Cepeda,O., Johnson,E.W., Ptacek,L.,
            Steinberg,G.K., Ogilvy,C.S., Berg,M.J., Crawford,S.C., Scott,R.M.,
            Steichen-Gersdorf,E., Sabroe,R., Kennedy,C.T., Mettler,G.,
            Beis,M.J., Fryer,A., Awad,I.A. and Lifton,R.P.
  TITLE     Multilocus linkage identifies two new loci for a mendelian form of
            stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27
  JOURNAL   Hum Mol Genet 7 (12), 1851-1858 (1998)
   PUBMED   9811928
REFERENCE   10 (bases 1 to 2133)
  AUTHORS   Flemming,K.D., Smith,E., Marchuk,D. and Derry,W.B.
  TITLE     Familial Cerebral Cavernous Malformations
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301470
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079822.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_007217.3.
            
            Summary: This gene encodes an evolutionarily conserved protein
            associated with cell apoptosis. The protein interacts with the
            serine/threonine protein kinase MST4 to modulate the extracellular
            signal-regulated kinase (ERK) pathway. It also interacts with and
            is phosphoryated by serine/threonine kinase 25, and is thought to
            function in a signaling pathway essential for vascular developent.
            Mutations in this gene are one cause of cerebral cavernous
            malformations, which are vascular malformations that cause seizures
            and cerebral hemorrhages. Multiple alternatively spliced variants,
            encoding the same protein, have been identified. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, and 3 encode the same isoform.
            
            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 :: BC002506.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392750.7/ ENSP00000376506.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-231               AC079822.13        107601-107831       c
            232-368             AC079822.13        107153-107289       c
            369-580             AC079822.13        93001-93212         c
            581-634             AC079822.13        77781-77834         c
            635-752             AC079822.13        69948-70065         c
            753-879             AC079822.13        68535-68661         c
            880-958             AC079822.13        60554-60632         c
            959-1041            AC079822.13        60173-60255         c
            1042-2133           AC079822.13        56237-57328         c
FEATURES             Location/Qualifiers
     source          1..2133
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..2133
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="programmed cell death 10"
                     /db_xref="GeneID:11235"
                     /db_xref="HGNC:HGNC:8761"
                     /db_xref="MIM:609118"
     exon            1..231
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     exon            232..368
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     exon            369..580
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     CDS             485..1123
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="apoptosis-related protein 15; TF-1 cell
                     apoptosis-related protein 15; cerebral cavernous
                     malformations 3 protein"
                     /codon_start=1
                     /product="programmed cell death protein 10"
                     /protein_id="NP_009148.2"
                     /db_xref="CCDS:CCDS3202.1"
                     /db_xref="GeneID:11235"
                     /db_xref="HGNC:HGNC:8761"
                     /db_xref="MIM:609118"
                     /translation="MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTL
                     RAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESLLRMAADDVEEYMIERPEPEFQD
                     LNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
                     EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA"
     exon            581..634
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     exon            635..752
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     exon            753..879
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     exon            880..958
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1041
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..2133
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1502..1507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="hexamer: AATAAA"
     polyA_site      1525
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="major polyA site"
     regulatory      1665..1670
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="hexamer: AATAAA"
     polyA_site      1696
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
     regulatory      2113..2118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="hexamer: AATAAA"
     polyA_site      2133
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
ORIGIN      
        1 gggtccttcc ggcgtcgccg gagtgaattg atccgggagt tgaagagggc tgcaaggtgg
       61 gaagtgaagt cagtgcctca gttgctggta aggtgtagct gttctgtccc agtccccgta
      121 gctctgcacc gagcagaaga ggtctagggt cacgcagggg ccatggctga ggcacttggg
      181 cttggttctg gcaggcggag cggacggggc tgagagcggg gccctacggg cggaagagga
      241 gcactggaag aaggaagaga caaatgttgg ggtctacgga ttcagttcca gtttaatgat
      301 gtggccctct aaggagataa ttttgcctta aacagaaaga cttgaccctc ttaggtgtca
      361 tacctaagat cagtgtgttt tttgtgtcca attcttttat caccaaaaaa gagaagaaat
      421 attgcagtga atgaagattc ctctgcattt tagcactgct ttttcaactg tagttggctt
      481 ttgaatgagg atgacaatgg aagagatgaa gaatgaagct gagaccacat ccatggtttc
      541 tatgcccctc tatgcagtca tgtatcctgt gtttaatgag ctagaacgag taaatctgtc
      601 tgcagcccag acactgagag ccgctttcat caaggctgaa aaagaaaatc caggtctcac
      661 acaagacatc attatgaaaa ttttagagaa aaaaagcgtg gaagttaact tcacggagtc
      721 ccttcttcgt atggcagctg atgatgtaga agagtatatg attgaacgac cagagccaga
      781 attccaagac ctaaacgaaa aggcacgagc acttaaacaa attctcagta agatcccaga
      841 tgagatcaat gacagagtga ggtttctgca gacaatcaag gatatagcta gtgcaataaa
      901 agaacttctt gatacagtga ataatgtctt caagaaatat caataccaga accgcagggc
      961 acttgaacac caaaagaaag aatttgtaaa gtactccaaa agtttcagtg atactctgaa
     1021 aacgtatttt aaagatggca aggcaataaa tgtgttcgta agtgccaacc gactaattca
     1081 tcaaaccaac ttaatacttc agaccttcaa aactgtggcc tgaaagttgt atatgttaag
     1141 agatgtactt ctcagtggca gtattgaact gcctttatct gtaaatttta aagtttgact
     1201 gtataaatta tcagtccctc ctgaagggat ctaatccagg atgttgaatg ggattattgc
     1261 catcttacac catatttttg taaaatgtag cttaatcata atctcacact gaagattttg
     1321 catcactttt gctattatca ttcttttaag aattataagc caaaagaatt tacgccttaa
     1381 tgtgtcatta tataacattc cttaaaagaa ttgtaaatat tggtgtttgt ttctgacatt
     1441 ttaacttgaa agcgatatgc tgcaagataa tgtatttaac aatatttggt ggcaaatatt
     1501 caataaatag tttacatctg ttaaacattt ctttacttga aaaaatgcat atatatatgt
     1561 gtgtatatat atatatatat atatatatat gaacagaaga ccaagacaac ttggtgtaat
     1621 gtctaaaaaa cttctaatgg gagcttatca gcagtttatc aaataataaa gcaagaattt
     1681 ctatttttgt ccttaatcac tttggacaca gagtagtcaa tggaaatatt tttgttaatt
     1741 acttataagg tactgagtat ttttatatga tttccaacct gttttaaacg acttatgagt
     1801 aagagatagc attttctagt gtttttgcac tataatgcca ctttttgaac tcttgtgaca
     1861 aatgtagatt tgactcttaa aaattaagcc tttcgtatac tgggccctca taagctttgc
     1921 acaatttttt cccaaaaaat agccacaatt aatagtaatt tgaagctata tcaacggttg
     1981 gattgaaatt gtcatgagtg ttaatattat atacactctt caactaggta cagttttatt
     2041 tcaccataga gaagttttaa ggaaattatg tatcaagtgt tcatgttaag tggtttcatt
     2101 tttcaattat aaaataaagg gaaaaaatca gaa
//
