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2024-03-29 11:00:51, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_145860               1212 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens programmed cell death 10 (PDCD10), transcript variant
            3, mRNA.
ACCESSION   NM_145860
VERSION     NM_145860.1  GI:22538793
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 1212)
  AUTHORS   Xu,X., Wang,X., Ding,J. and Wang,D.C.
  TITLE     Crystallization and preliminary crystallographic studies of CCM3 in
            complex with the C-terminal domain of MST4
  JOURNAL   Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 68 (PT 7),
            760-763 (2012)
   PUBMED   22750858
  REMARK    GeneRIF: crystal of the CCM3-MST4 C-terminal domain complex
            belonged to space group P4(1)2(1)2 or P4(3)2(1)2, with unit-cell
            parameters a = 69.10, b = 69.10, c = 117.57 A
REFERENCE   2  (bases 1 to 1212)
  AUTHORS   Fidalgo,M., Guerrero,A., Fraile,M., Iglesias,C., Pombo,C.M. and
            Zalvide,J.
  TITLE     Adaptor protein cerebral cavernous malformation 3 (CCM3) mediates
            phosphorylation of the cytoskeletal proteins ezrin/radixin/moesin
            by mammalian Ste20-4 to protect cells from oxidative stress
  JOURNAL   J. Biol. Chem. 287 (14), 11556-11565 (2012)
   PUBMED   22291017
  REMARK    GeneRIF: role of CCM3 and ezrin/radixin/moesin family of proteins
            in cell's response to oxidative stress
REFERENCE   3  (bases 1 to 1212)
  AUTHORS   Zhang,H., Ma,X., Deng,X., Chen,Y., Mo,X., Zhang,Y., Zhao,H. and
            Ma,D.
  TITLE     PDCD10 interacts with STK25 to accelerate cell apoptosis under
            oxidative stress
  JOURNAL   Front. Biosci. 17, 2295-2305 (2012)
   PUBMED   22652780
  REMARK    GeneRIF: PDCD10 might be a regulatory adaptor required for STK25
            functions, which differ distinctly depending on the redox status of
            the cells that may be potentially related to tumor progression.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1212)
  AUTHORS   Li,X., Ji,W., Zhang,R., Folta-Stogniew,E., Min,W. and Boggon,T.J.
  TITLE     Molecular recognition of leucine-aspartate repeat (LD) motifs by
            the focal adhesion targeting homology domain of cerebral cavernous
            malformation 3 (CCM3)
  JOURNAL   J. Biol. Chem. 286 (29), 26138-26147 (2011)
   PUBMED   21632544
  REMARK    GeneRIF: the crystal structures of CCM3 in complex with three
            different leucine-aspartate repeat (LD) motifs (LD1, LD2, and LD4)
            from the scaffolding protein paxillin
REFERENCE   5  (bases 1 to 1212)
  AUTHORS   Lin,C., Meng,S., Zhu,T. and Wang,X.
  TITLE     PDCD10/CCM3 acts downstream of {gamma}-protocadherins to regulate
            neuronal survival
  JOURNAL   J. Biol. Chem. 285 (53), 41675-41685 (2010)
   PUBMED   21041308
  REMARK    GeneRIF: PDCD10/CCM3 acts as a critical regulator of neuronal
            survival during development
REFERENCE   6  (bases 1 to 1212)
  AUTHORS   Liquori,C.L., Berg,M.J., Squitieri,F., Ottenbacher,M., Sorlie,M.,
            Leedom,T.P., Cannella,M., Maglione,V., Ptacek,L., Johnson,E.W. and
            Marchuk,D.A.
  TITLE     Low frequency of PDCD10 mutations in a panel of CCM3 probands:
            potential for a fourth CCM locus
  JOURNAL   Hum. Mutat. 27 (1), 118 (2006)
   PUBMED   16329096
  REMARK    GeneRIF: Sequence analysis of PDCD10 in a panel of 29 probands
            lacking Krit1 and MGC4607 mutations revealed only three mutations.
REFERENCE   7  (bases 1 to 1212)
  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   8  (bases 1 to 1212)
  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   9  (bases 1 to 1212)
  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 JJ, Neau JP, 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   10 (bases 1 to 1212)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF022385.1.
            
            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 (3) differs in the 5' UTR compared
            to variant 1. 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 :: AF022385.1, AK291130.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1212
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..1212
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="programmed cell death 10"
                     /db_xref="GeneID:11235"
                     /db_xref="HGNC:8761"
                     /db_xref="MIM:609118"
     exon            1..37
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     exon            38..249
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     variation       81
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1129086"
     misc_feature    151..153
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="upstream in-frame stop codon"
     CDS             154..792
                     /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_665859.1"
                     /db_xref="GI:22538794"
                     /db_xref="CCDS:CCDS3202.1"
                     /db_xref="GeneID:11235"
                     /db_xref="HGNC:8761"
                     /db_xref="MIM:609118"
                     /translation="
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESLLRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRALEHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA
"
     misc_feature    181..639
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /note="Protein of unknown function (DUF1241); Region:
                     DUF1241; pfam06840"
                     /db_xref="CDD:191619"
     misc_feature    688..690
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (Q9BUL8.1); acetylation site"
     exon            250..303
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     exon            304..421
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     variation       311
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:11541686"
     variation       401
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11541685"
     exon            422..548
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     variation       458
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1129087"
     exon            549..627
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     STS             626..791
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /db_xref="UniSTS:234579"
     exon            628..710
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     exon            711..1194
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    1171..1176
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
     polyA_site      1194
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /experiment="experimental evidence, no additional details
                     recorded"
ORIGIN      
tgcaaggtgggaagtgaagtcagtgcctcagttgctgatcagtgtgttttttgtgtccaattcttttatcaccaaaaaagagaagaaatattgcagtgaatgaagattcctctgcattttagcactgctttttcaactgtagttggcttttgaatgaggatgacaatggaagagatgaagaatgaagctgagaccacatccatggtttctatgcccctctatgcagtcatgtatcctgtgtttaatgagctagaacgagtaaatctgtctgcagcccagacactgagagccgctttcatcaaggctgaaaaagaaaatccaggtctcacacaagacatcattatgaaaattttagagaaaaaaagcgtggaagttaacttcacggagtcccttcttcgtatggcagctgatgatgtagaagagtatatgattgaacgaccagagccagaattccaagacctaaacgaaaaggcacgagcacttaaacaaattctcagtaagatcccagatgagatcaatgacagagtgaggtttctgcagacaatcaaggatatagctagtgcaataaaagaacttcttgatacagtgaataatgtcttcaagaaatatcaataccagaaccgcagggcacttgaacaccaaaagaaagaatttgtaaagtactccaaaagtttcagtgatactctgaaaacgtattttaaagatggcaaggcaataaatgtgttcgtaagtgccaaccgactaattcatcaaaccaacttaatacttcagaccttcaaaactgtggcctgaaagttgtatatgttaagagatgtacttctcagtggcagtattgaactgcctttatctgtaaattttaaagtttgactgtataaattatcagtccctcctgaagggatctaatccaggatgttgaatgggattattgccatcttacaccatatttttgtaaaatgtagcttaatcataatctcacactgaagattttgcatcacttttgctattatcattcttttaagaattataagccaaaagaatttacgccttaatgtgtcattatataacattccttaaaagaattgtaaatattggtgtttgtttctgacattttaacttgaaagcgatatgctgcaagataatgtatttaacaatatttggtggcaaatattcaataaatagtttacatctgttaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:11235 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:11235 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IPI
            GeneID:11235 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI
            GeneID:11235 -> Biological process: GO:0001525 [angiogenesis] evidence: IEA
            GeneID:11235 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:11235 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IDA
            GeneID:11235 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IDA
            GeneID:11235 -> Biological process: GO:0043406 [positive regulation of MAP kinase activity] evidence: IDA
            GeneID:11235 -> Cellular component: GO:0000139 [Golgi membrane] evidence: IEA
            GeneID:11235 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
            GeneID:11235 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA

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