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
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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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