LOCUS       NM_030782               2492 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens CLPTM1 like (CLPTM1L), mRNA.
ACCESSION   NM_030782 XM_001722978
VERSION     NM_030782.5
KEYWORDS    RefSeq; MANE Select.
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 2492)
  AUTHORS   Jeong,M.S., Mun,J.Y., Yang,G.E., Kim,M.H., Lee,S.Y., Choi,Y.H.,
            Kim,H.S., Nam,J.K., Kim,T.N. and Leem,S.H.
  TITLE     Exploring the Relationship between CLPTM1L-MS2 Variants and
            Susceptibility to Bladder Cancer
  JOURNAL   Genes (Basel) 15 (1), 50 (2023)
   PUBMED   38254939
  REMARK    GeneRIF: Exploring the Relationship between CLPTM1L-MS2 Variants
            and Susceptibility to Bladder Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2492)
  AUTHORS   Kol,I., Rishiq,A., Cohen,M., Kahlon,S., Pick,O., Dassa,L.,
            Stein,N., Bar-On,Y., Wolf,D.G., Seidel,E. and Mandelboim,O.
  TITLE     CLPTM1L is a GPI-anchoring pathway component targeted by HCMV
  JOURNAL   J Cell Biol 222 (9) (2023)
   PUBMED   37389656
  REMARK    GeneRIF: CLPTM1L is a GPI-anchoring pathway component targeted by
            HCMV.
REFERENCE   3  (bases 1 to 2492)
  AUTHORS   Derrien,A.C., Houy,A., Ganier,O., Dingli,F., Ningarhari,M.,
            Mobuchon,L., Espejo Diaz,M.I., Loew,D., Cassoux,N., Cussenot,O.,
            Cancel-Tassin,G., Margueron,R., Noirel,J., Zucman-Rossi,J.,
            Rodrigues,M. and Stern,M.H.
  TITLE     Functional characterization of 5p15.33 risk locus in uveal melanoma
            reveals rs452384 as a functional variant and NKX2.4 as an
            allele-specific interactor
  JOURNAL   Am J Hum Genet 109 (12), 2196-2209 (2022)
   PUBMED   36459980
  REMARK    GeneRIF: Functional characterization of 5p15.33 risk locus in uveal
            melanoma reveals rs452384 as a functional variant and NKX2.4 as an
            allele-specific interactor.
REFERENCE   4  (bases 1 to 2492)
  AUTHORS   Wang,Y., Menon,A.K., Maki,Y., Liu,Y.S., Iwasaki,Y., Fujita,M.,
            Guerrero,P.A., Silva,D.V., Seeberger,P.H., Murakami,Y. and
            Kinoshita,T.
  TITLE     Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase
            required for efficient glycosylphosphatidylinositol biosynthesis
  JOURNAL   Proc Natl Acad Sci U S A 119 (14), e2115083119 (2022)
   PUBMED   35344438
REFERENCE   5  (bases 1 to 2492)
  AUTHORS   Bowden,S.J., Bodinier,B., Kalliala,I., Zuber,V., Vuckovic,D.,
            Doulgeraki,T., Whitaker,M.D., Wielscher,M., Cartwright,R.,
            Tsilidis,K.K., Bennett,P., Jarvelin,M.R., Flanagan,J.M.,
            Chadeau-Hyam,M. and Kyrgiou,M.
  CONSRTM   FinnGen consortium
  TITLE     Genetic variation in cervical preinvasive and invasive disease: a
            genome-wide association study
  JOURNAL   Lancet Oncol 22 (4), 548-557 (2021)
   PUBMED   33794208
  REMARK    GeneRIF: Genetic variation in cervical preinvasive and invasive
            disease: a genome-wide association study.
REFERENCE   6  (bases 1 to 2492)
  AUTHORS   Jin,G., Xu,L., Shu,Y., Tian,T., Liang,J., Xu,Y., Wang,F., Chen,J.,
            Dai,J., Hu,Z. and Shen,H.
  TITLE     Common genetic variants on 5p15.33 contribute to risk of lung
            adenocarcinoma in a Chinese population
  JOURNAL   Carcinogenesis 30 (6), 987-990 (2009)
   PUBMED   19369581
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2492)
  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 2492)
  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 2492)
  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 2492)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026748.7, CD109529.1,
            BC025305.1, BQ019182.1 and AC114291.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_030782.4.
            
            Summary: The protein encoded by this gene is a membrane protein
            whose overexpression in cisplatin-sensitive cells causes apoptosis.
            Polymorphisms in this gene have been reported to increase
            susceptibility to several cancers, including lung, pancreatic, and
            breast cancers. [provided by RefSeq, Nov 2015].
            
            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 :: AK027306.1, BC025305.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320895.10/ ENSP00000313854.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                AC026748.7         164674-164702
            30-212              CD109529.1         29-211
            213-2360            BC025305.1         2-2149
            2361-2409           BQ019182.1         108-156             c
            2410-2410           AC114291.2         201841-201841       c
            2411-2492           BQ019182.1         25-106              c
FEATURES             Location/Qualifiers
     source          1..2492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..2492
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /note="CLPTM1 like"
                     /db_xref="GeneID:81037"
                     /db_xref="HGNC:HGNC:24308"
                     /db_xref="MIM:612585"
     exon            1..420
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     CDS             259..1875
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /note="cisplatin resistance related protein CRR9p; cleft
                     lip and palate transmembrane protein 1-like protein;
                     CLPTM1-like protein; cisplatin resistance-related protein
                     9"
                     /codon_start=1
                     /product="lipid scramblase CLPTM1L"
                     /protein_id="NP_110409.2"
                     /db_xref="CCDS:CCDS3862.1"
                     /db_xref="GeneID:81037"
                     /db_xref="HGNC:HGNC:24308"
                     /db_xref="MIM:612585"
                     /translation="MWSGRSSFTSLVVGVFVVYVVHTCWVMYGIVYTRPCSGDANCIQ
                     PYLARRPKLQLSVYTTTRSHLGAENNIDLVLNVEDFDVESKFERTVNVSVPKKTRNNG
                     TLYAYIFLHHAGVLPWHDGKQVHLVSPLTTYMVPKPEEINLLTGESDTQQIEAEKKPT
                     SALDEPVSHWRPRLALNVMADNFVFDGSSLPADVHRYMKMIQLGKTVHYLPILFIDQL
                     SNRVKDLMVINRSTTELPLTVSYDKVSLGRLRFWIHMQDAVYSLQQFGFSEKDADEVK
                     GIFVDTNLYFLALTFFVAAFHLLFDFLAFKNDISFWKKKKSMIGMSTKAVLWRCFSTV
                     VIFLFLLDEQTSLLVLVPAGVGAAIELWKVKKALKMTIFWRGLMPEFQFGTYSESERK
                     TEEYDTQAMKYLSYLLYPLCVGGAVYSLLNIKYKSWYSWLINSFVNGVYAFGFLFMLP
                     QLFVNYKLKSVAHLPWKAFTYKAFNTFIDDVFAFIITMPTSHRLACFRDDVVFLVYLY
                     QRWLYPVDKRRVNEFGESYEEKATRAPHTD"
     exon            421..521
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            522..711
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            712..857
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            858..936
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            937..1054
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1149
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1234
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1338
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1404
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1455
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1538
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1573
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1629
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1674
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..1790
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1791..2492
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2355..2360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /note="hexamer: AATAAA"
     polyA_site      2377
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /note="major polyA site"
     regulatory      2468..2473
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
                     /note="hexamer: ATTAAA"
     polyA_site      2492
                     /gene="CLPTM1L"
                     /gene_synonym="CRR9"
ORIGIN      
        1 acttccggca ggcggcgggg cccggaagcg gcgcgcgggg ccggcgaatc ccgcggcgcc
       61 aggtgggagc ggggccggag catgcggggc ggccggcggt ctgcggcgcg cggcgcattc
      121 gttcccccgc ggcggtggcg gtggcgcgcg gcggctctcc agtgagcggc ggagcccgga
      181 gcggcgggct gggcgccggg cgggcggggc tcgcggctga gaggcgggcg ggccgggggc
      241 gccgggcgcg gggccgccat gtggagcggc cgcagctcct tcaccagctt ggtggtgggc
      301 gtgttcgtgg tctacgtggt gcacacctgc tgggtcatgt acggcatcgt ctacacccgc
      361 ccgtgctccg gcgacgccaa ctgcatccag ccctacctgg cgcggcggcc caagctgcag
      421 ctgagcgtgt acaccacgac gaggtcccac ctgggtgctg agaacaacat cgacctggtc
      481 ttgaatgtgg aagactttga tgtggagtcc aaatttgaaa ggacagttaa tgtttctgta
      541 ccaaagaaaa cgagaaacaa tgggacgctg tatgcctaca tcttcctcca tcacgctggg
      601 gtcctgccgt ggcacgacgg gaagcaggtg cacctggtca gtcctctgac cacctacatg
      661 gtccccaagc cagaagaaat caacctgctc accggggagt ctgatacaca gcagatcgag
      721 gcggagaaga agccgacgag tgccctggat gagccagtgt cccactggcg accgcggctg
      781 gcgctgaacg tgatggcgga caactttgtc tttgacgggt cctccctgcc tgccgatgtg
      841 catcggtaca tgaagatgat ccagctgggg aaaaccgtgc attacctgcc catcctgttc
      901 atcgaccagc tcagcaaccg cgtgaaggac ctgatggtca taaaccgctc caccaccgag
      961 ctgcccctca ccgtgtccta cgacaaggtc tcactggggc ggctgcgctt ctggatccac
     1021 atgcaggacg ccgtgtactc cctgcagcag ttcgggtttt cagagaaaga tgctgatgag
     1081 gtgaaaggaa tttttgtaga taccaactta tacttcctgg cgctgacctt ctttgtcgca
     1141 gcgttccatc ttctctttga tttcctggcc tttaaaaatg acatcagttt ctggaagaag
     1201 aagaagagca tgatcggcat gtccaccaag gcagtgctct ggcgctgctt cagcaccgtg
     1261 gtcatctttc tgttcctgct ggacgagcag acgagcctgc tggtgctggt cccggcgggt
     1321 gttggagccg ccattgagct gtggaaagtg aagaaggcat tgaagatgac tattttttgg
     1381 agaggcctga tgcccgaatt tcagtttggc acttacagcg aatctgagag gaaaaccgag
     1441 gagtacgata ctcaggccat gaagtacttg tcatacctgc tgtaccctct ctgtgtcggg
     1501 ggtgctgtct attcactcct gaatatcaaa tataagagct ggtactcctg gttaatcaac
     1561 agcttcgtca acggggtcta tgcctttggt ttcctcttca tgctgcccca gctctttgtg
     1621 aactacaagt tgaagtcagt ggcacatctg ccctggaagg ccttcaccta caaggctttc
     1681 aacaccttca ttgatgacgt ctttgccttc atcatcacca tgcccacgtc tcaccggctg
     1741 gcctgcttcc gggacgacgt ggtgtttctg gtctacctgt accagcggtg gctttatcct
     1801 gtggataaac gcagagtgaa cgagtttggg gagtcctacg aggagaaggc cacgcgggcg
     1861 ccccacacgg actgaaggcc gcccgggctg ccgccagcca agtgcaactt gaattgtcaa
     1921 tgagtatttt tggaagcatt tggaggaatt cctagacatt gcgttttctg tgttgccaaa
     1981 atcccttcgg acatttctca gacatctccc aagttcccat cacgtcagat ttggagctgg
     2041 tagcgcttac gatgccccca cgtgtgaaca tctgtcttgg tcacagagct gggtgctgcc
     2101 ggtcaccttg agctgtggtg gctcccggca cacgagtgtc cggggttcgg ccatgtcctc
     2161 acgcgggcag gggtgggagc cctcacaggc aagggggctg ttggatttcc atttcaggtg
     2221 gttttctaag tgctccttat gtgaatttca aacacgtatg gaattcattc cgcatggact
     2281 ctgggatcaa aggctctttc ctcttttgtt tgagagttgg ttgttttaaa gcttaatgta
     2341 tgtttctatt ttaaaataaa tttttctggc tgtggcattt ttcttgacct ggtataatga
     2401 aagtatttcg gatatttgag tttaaccctt ttccagaaag taatacatga tatggattta
     2461 tttatgcatt aaaagagcaa atttaaagag cc
//
