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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
//

Annotations:

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

by @meso_cacase at DBCLS
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