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2025-12-16 15:34:45, 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 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
by
@meso_cacase at
DBCLS
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