2024-03-29 17:54:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_030782 2164 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens CLPTM1-like (CLPTM1L), mRNA. ACCESSION NM_030782 XM_001722978 VERSION NM_030782.3 GI:142380452 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 2164) AUTHORS Schilling,G., Penas,E.M., Janjetovic,S., Oliveira-Ferrer,L., Braig,M., Behrmann,P., Bokemeyer,C. and Dierlamm,J. TITLE Molecular characterization of chromosomal band 5p15.33: a recurrent breakpoint region in mantle cell lymphoma involving the TERT-CLPTM1L locus JOURNAL Leuk. Res. 37 (3), 280-286 (2013) PUBMED 23137523 REMARK GeneRIF: Further molecular characterization by flow-FISH and quantitative RT-PCR suggest TERT and CLPTM1L as target genes of 5p15.33 rearrangements. REFERENCE 2 (bases 1 to 2164) AUTHORS Yang,X., Yang,B., Li,B. and Liu,Y. TITLE Association between TERT-CLPTM1L rs401681[C] allele and NMSC cancer risk: a meta-analysis including 45,184 subjects JOURNAL Arch. Dermatol. Res. 305 (1), 49-52 (2013) PUBMED 22893025 REMARK GeneRIF: TERT-CLPTM1L rs401681[C] allele is risk factor for basal cell carcinoma but not for squamous cell carcinoma. REFERENCE 3 (bases 1 to 2164) AUTHORS Ni,Z., Tao,K., Chen,G., Chen,Q., Tang,J., Luo,X., Yin,P., Tang,J. and Wang,X. TITLE CLPTM1L is overexpressed in lung cancer and associated with apoptosis JOURNAL PLoS ONE 7 (12), E52598 (2012) PUBMED 23300716 REMARK GeneRIF: CLPTM1L is a mitochondria protein that may be associated with an anti-apoptotic mechanism which affects drug-resistance in lung cancer cells. REFERENCE 4 (bases 1 to 2164) AUTHORS Yin,J., Li,Y., Yin,M., Sun,J., Liu,L., Qin,Q., Li,X., Long,L., Nie,S. and Wei,S. TITLE TERT-CLPTM1L polymorphism rs401681 contributes to cancers risk: evidence from a meta-analysis based on 29 publications JOURNAL PLoS ONE 7 (11), E50650 (2012) PUBMED 23226346 REMARK GeneRIF: association between genetic polymorphism and cancer risk REFERENCE 5 (bases 1 to 2164) AUTHORS James,M.A., Wen,W., Wang,Y., Byers,L.A., Heymach,J.V., Coombes,K.R., Girard,L., Minna,J. and You,M. TITLE Functional characterization of CLPTM1L as a lung cancer risk candidate gene in the 5p15.33 locus JOURNAL PLoS ONE 7 (6), E36116 (2012) PUBMED 22675468 REMARK GeneRIF: This study implicates anti-apoptotic CLPTM1L function as a potential mechanism of susceptibility to lung tumorigenesis and resistance to chemotherapy. REFERENCE 6 (bases 1 to 2164) AUTHORS Chapuis,J., Hot,D., Hansmannel,F., Kerdraon,O., Ferreira,S., Hubans,C., Maurage,C.A., Huot,L., Bensemain,F., Laumet,G., Ayral,A.M., Fievet,N., Hauw,J.J., DeKosky,S.T., Lemoine,Y., Iwatsubo,T., Wavrant-Devrieze,F., Dartigues,J.F., Tzourio,C., Buee,L., Pasquier,F., Berr,C., Mann,D., Lendon,C., Alperovitch,A., Kamboh,M.I., Amouyel,P. and Lambert,J.C. TITLE Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease JOURNAL Mol. Psychiatry 14 (11), 1004-1016 (2009) PUBMED 19204726 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (bases 1 to 2164) AUTHORS Rafnar,T., Sulem,P., Stacey,S.N., Geller,F., Gudmundsson,J., Sigurdsson,A., Jakobsdottir,M., Helgadottir,H., Thorlacius,S., Aben,K.K., Blondal,T., Thorgeirsson,T.E., Thorleifsson,G., Kristjansson,K., Thorisdottir,K., Ragnarsson,R., Sigurgeirsson,B., Skuladottir,H., Gudbjartsson,T., Isaksson,H.J., Einarsson,G.V., Benediktsdottir,K.R., Agnarsson,B.A., Olafsson,K., Salvarsdottir,A., Bjarnason,H., Asgeirsdottir,M., Kristinsson,K.T., Matthiasdottir,S., Sveinsdottir,S.G., Polidoro,S., Hoiom,V., Botella-Estrada,R., Hemminki,K., Rudnai,P., Bishop,D.T., Campagna,M., Kellen,E., Zeegers,M.P., de Verdier,P., Ferrer,A., Isla,D., Vidal,M.J., Andres,R., Saez,B., Juberias,P., Banzo,J., Navarrete,S., Tres,A., Kan,D., Lindblom,A., Gurzau,E., Koppova,K., de Vegt,F., Schalken,J.A., van der Heijden,H.F., Smit,H.J., Termeer,R.A., Oosterwijk,E., van Hooij,O., Nagore,E., Porru,S., Steineck,G., Hansson,J., Buntinx,F., Catalona,W.J., Matullo,G., Vineis,P., Kiltie,A.E., Mayordomo,J.I., Kumar,R., Kiemeney,L.A., Frigge,M.L., Jonsson,T., Saemundsson,H., Barkardottir,R.B., Jonsson,E., Jonsson,S., Olafsson,J.H., Gulcher,J.R., Masson,G., Gudbjartsson,D.F., Kong,A., Thorsteinsdottir,U. and Stefansson,K. TITLE Sequence variants at the TERT-CLPTM1L locus associate with many cancer types JOURNAL Nat. Genet. 41 (2), 221-227 (2009) PUBMED 19151717 REMARK GeneRIF: Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. REFERENCE 8 (bases 1 to 2164) AUTHORS McKay,J.D., Hung,R.J., Gaborieau,V., Boffetta,P., Chabrier,A., Byrnes,G., Zaridze,D., Mukeria,A., Szeszenia-Dabrowska,N., Lissowska,J., Rudnai,P., Fabianova,E., Mates,D., Bencko,V., Foretova,L., Janout,V., McLaughlin,J., Shepherd,F., Montpetit,A., Narod,S., Krokan,H.E., Skorpen,F., Elvestad,M.B., Vatten,L., Njolstad,I., Axelsson,T., Chen,C., Goodman,G., Barnett,M., Loomis,M.M., Lubinski,J., Matyjasik,J., Lener,M., Oszutowska,D., Field,J., Liloglou,T., Xinarianos,G., Cassidy,A., Vineis,P., Clavel-Chapelon,F., Palli,D., Tumino,R., Krogh,V., Panico,S., Gonzalez,C.A., Ramon Quiros,J., Martinez,C., Navarro,C., Ardanaz,E., Larranaga,N., Kham,K.T., Key,T., Bueno-de-Mesquita,H.B., Peeters,P.H., Trichopoulou,A., Linseisen,J., Boeing,H., Hallmans,G., Overvad,K., Tjonneland,A., Kumle,M., Riboli,E., Zelenika,D., Boland,A., Delepine,M., Foglio,M., Lechner,D., Matsuda,F., Blanche,H., Gut,I., Heath,S., Lathrop,M. and Brennan,P. CONSRTM EPIC Study TITLE Lung cancer susceptibility locus at 5p15.33 JOURNAL Nat. Genet. 40 (12), 1404-1406 (2008) PUBMED 18978790 REMARK GeneRIF: The susceptibility region contains two genes, TERT and CLPTM1L, suggesting that one or both may have a role in lung cancer etiology. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 9 (bases 1 to 2164) AUTHORS Wang,Y., Broderick,P., Webb,E., Wu,X., Vijayakrishnan,J., Matakidou,A., Qureshi,M., Dong,Q., Gu,X., Chen,W.V., Spitz,M.R., Eisen,T., Amos,C.I. and Houlston,R.S. TITLE Common 5p15.33 and 6p21.33 variants influence lung cancer risk JOURNAL Nat. Genet. 40 (12), 1407-1409 (2008) PUBMED 18978787 REMARK GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 10 (bases 1 to 2164) AUTHORS Yamamoto,K., Okamoto,A., Isonishi,S., Ochiai,K. and Ohtake,Y. TITLE A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis JOURNAL Biochem. Biophys. Res. Commun. 280 (4), 1148-1154 (2001) PUBMED 11162647 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from BC025305.1. On or before Jun 10, 2008 this sequence version replaced gi:169167703, gi:21359964. Sequence Note: removed 1 base from the 5' end that did not align to the reference genome assembly. 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 :: BC025305.1, AK027306.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-2164 BC025305.1 2-2165 FEATURES Location/Qualifiers source 1..2164 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5p15.33" gene 1..2164 /gene="CLPTM1L" /gene_synonym="CRR9" /note="CLPTM1-like" /db_xref="GeneID:81037" /db_xref="HGNC:24308" /db_xref="HPRD:07480" /db_xref="MIM:612585" exon 1..208 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" CDS 47..1663 /gene="CLPTM1L" /gene_synonym="CRR9" /note="cisplatin resistance related protein CRR9p; CLPTM1-like protein; cisplatin resistance-related protein 9" /codon_start=1 /product="cleft lip and palate transmembrane protein 1-like protein" /protein_id="NP_110409.2" /db_xref="GI:21359965" /db_xref="CCDS:CCDS3862.1" /db_xref="GeneID:81037" /db_xref="HGNC:24308" /db_xref="HPRD:07480" /db_xref="MIM:612585" /translation="
MWSGRSSFTSLVVGVFVVYVVHTCWVMYGIVYTRPCSGDANCIQPYLARRPKLQLSVYTTTRSHLGAENNIDLVLNVEDFDVESKFERTVNVSVPKKTRNNGTLYAYIFLHHAGVLPWHDGKQVHLVSPLTTYMVPKPEEINLLTGESDTQQIEAEKKPTSALDEPVSHWRPRLALNVMADNFVFDGSSLPADVHRYMKMIQLGKTVHYLPILFIDQLSNRVKDLMVINRSTTELPLTVSYDKVSLGRLRFWIHMQDAVYSLQQFGFSEKDADEVKGIFVDTNLYFLALTFFVAAFHLLFDFLAFKNDISFWKKKKSMIGMSTKAVLWRCFSTVVIFLFLLDEQTSLLVLVPAGVGAAIELWKVKKALKMTIFWRGLMPEFQFGTYSESERKTEEYDTQAMKYLSYLLYPLCVGGAVYSLLNIKYKSWYSWLINSFVNGVYAFGFLFMLPQLFVNYKLKSVAHLPWKAFTYKAFNTFIDDVFAFIITMPTSHRLACFRDDVVFLVYLYQRWLYPVDKRRVNEFGESYEEKATRAPHTD
" misc_feature 77..139 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96KA5.1); transmembrane region" misc_feature 110..1309 /gene="CLPTM1L" /gene_synonym="CRR9" /note="Cleft lip and palate transmembrane protein 1 (CLPTM1); Region: CLPTM1; pfam05602" /db_xref="CDD:203285" misc_feature 899..961 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96KA5.1); transmembrane region" misc_feature 1019..1072 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96KA5.1); transmembrane region" misc_feature 1085..1138 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96KA5.1); transmembrane region" misc_feature 1253..1315 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96KA5.1); transmembrane region" misc_feature 1331..1393 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96KA5.1); transmembrane region" exon 209..309 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" variation 263 /gene="CLPTM1L" /gene_synonym="CRR9" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:11557118" exon 310..499 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 500..645 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 646..724 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 725..842 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" STS 799..928 /gene="CLPTM1L" /gene_synonym="CRR9" /standard_name="RH16364" /db_xref="UniSTS:38773" variation 838 /gene="CLPTM1L" /gene_synonym="CRR9" /replace="a" /replace="g" /db_xref="dbSNP:34536907" exon 843..937 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 938..1022 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1023..1126 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1127..1192 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1193..1243 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1244..1326 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1327..1361 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1362..1417 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1418..1462 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1463..1578 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" exon 1579..2148 /gene="CLPTM1L" /gene_synonym="CRR9" /inference="alignment:Splign:1.39.8" variation 1656 /gene="CLPTM1L" /gene_synonym="CRR9" /replace="c" /replace="t" /db_xref="dbSNP:33955038" variation 1841 /gene="CLPTM1L" /gene_synonym="CRR9" /replace="c" /replace="t" /db_xref="dbSNP:1044434" variation 1843 /gene="CLPTM1L" /gene_synonym="CRR9" /replace="c" /replace="t" /db_xref="dbSNP:11557119" STS 1887..2122 /gene="CLPTM1L" /gene_synonym="CRR9" /standard_name="STS-AA037508" /db_xref="UniSTS:4442" variation 1912 /gene="CLPTM1L" /gene_synonym="CRR9" /replace="c" /replace="t" /db_xref="dbSNP:35898126" variation 1929 /gene="CLPTM1L" /gene_synonym="CRR9" /replace="c" /replace="t" /db_xref="dbSNP:36070693" ORIGIN
gcggctgagaggcgggcgggccgggggcgccgggcgcggggccgccatgtggagcggccgcagctccttcaccagcttggtggtgggcgtgttcgtggtctacgtggtgcacacctgctgggtcatgtacggcatcgtctacacccgcccgtgctccggcgacgccaactgcatccagccctacctggcgcggcggcccaagctgcagctgagcgtgtacaccacgacgaggtcccacctgggtgctgagaacaacatcgacctggtcttgaatgtggaagactttgatgtggagtccaaatttgaaaggacagttaatgtttctgtaccaaagaaaacgagaaacaatgggacgctgtatgcctacatcttcctccatcacgctggggtcctgccgtggcacgacgggaagcaggtgcacctggtcagtcctctgaccacctacatggtccccaagccagaagaaatcaacctgctcaccggggagtctgatacacagcagatcgaggcggagaagaagccgacgagtgccctggatgagccagtgtcccactggcgaccgcggctggcgctgaacgtgatggcggacaactttgtctttgacgggtcctccctgcctgccgatgtgcatcggtacatgaagatgatccagctggggaaaaccgtgcattacctgcccatcctgttcatcgaccagctcagcaaccgcgtgaaggacctgatggtcataaaccgctccaccaccgagctgcccctcaccgtgtcctacgacaaggtctcactggggcggctgcgcttctggatccacatgcaggacgccgtgtactccctgcagcagttcgggttttcagagaaagatgctgatgaggtgaaaggaatttttgtagataccaacttatacttcctggcgctgaccttctttgtcgcagcgttccatcttctctttgatttcctggcctttaaaaatgacatcagtttctggaagaagaagaagagcatgatcggcatgtccaccaaggcagtgctctggcgctgcttcagcaccgtggtcatctttctgttcctgctggacgagcagacgagcctgctggtgctggtcccggcgggtgttggagccgccattgagctgtggaaagtgaagaaggcattgaagatgactattttttggagaggcctgatgcccgaatttcagtttggcacttacagcgaatctgagaggaaaaccgaggagtacgatactcaggccatgaagtacttgtcatacctgctgtaccctctctgtgtcgggggtgctgtctattcactcctgaatatcaaatataagagctggtactcctggttaatcaacagcttcgtcaacggggtctatgcctttggtttcctcttcatgctgccccagctctttgtgaactacaagttgaagtcagtggcacatctgccctggaaggccttcacctacaaggctttcaacaccttcattgatgacgtctttgccttcatcatcaccatgcccacgtctcaccggctggcctgcttccgggacgacgtggtgtttctggtctacctgtaccagcggtggctttatcctgtggataaacgcagagtgaacgagtttggggagtcctacgaggagaaggccacgcgggcgccccacacggactgaaggccgcccgggctgccgccagccaagtgcaacttgaattgtcaatgagtatttttggaagcatttggaggaattcctagacattgcgttttctgtgttgccaaaatcccttcggacatttctcagacatctcccaagttcccatcacgtcagatttggagctggtagcgcttacgatgcccccacgtgtgaacatctgtcttggtcacagagctgggtgctgccggtcaccttgagctgtggtggctcccggcacacgagtgtccggggttcggccatgtcctcacgcgggcaggggtgggagccctcacaggcaagggggctgttggatttccatttcaggtggttttctaagtgctccttatgtgaatttcaaacacgtatggaattcattccgcatggactctgggatcaaaggctctttcctcttttgtttgagagttggttgttttaaagcttaatgtatgtttctattttaaaataaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:81037 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:81037 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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@meso_cacase at
DBCLS
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