LOCUS       NM_019095               3925 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1,
            mRNA.
ACCESSION   NM_019095
VERSION     NM_019095.6
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 3925)
  AUTHORS   Ikari,N., Honjo,K., Sagami,Y., Nakamura,Y. and Arakawa,H.
  TITLE     Mieap forms membrane-less organelles involved in cardiolipin
            metabolism
  JOURNAL   iScience 27 (2), 108916 (2024)
   PUBMED   38322995
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3925)
  AUTHORS   Lee,R.G., Balasubramaniam,S., Stentenbach,M., Kralj,T.,
            McCubbin,T., Padman,B., Smith,J., Riley,L.G., Priyadarshi,A.,
            Peng,L., Nuske,M.R., Webster,R., Peacock,K., Roberts,P., Stark,Z.,
            Lemire,G., Ito,Y.A., Boycott,K.M., Geraghty,M.T., van Klinken,J.B.,
            Ferdinandusse,S., Zhou,Y., Walsh,R., Marcellin,E., Thorburn,D.R.,
            Rosciolli,T., Fletcher,J., Rackham,O., Vaz,F.M., Reid,G.E. and
            Filipovska,A.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Deleterious variants in CRLS1 lead to cardiolipin deficiency and
            cause an autosomal recessive multi-system mitochondrial disease
  JOURNAL   Hum Mol Genet 31 (21), 3597-3612 (2022)
   PUBMED   35147173
  REMARK    GeneRIF: Deleterious variants in CRLS1 lead to cardiolipin
            deficiency and cause an autosomal recessive multi-system
            mitochondrial disease.
            Erratum:[Hum Mol Genet. 2023 Mar 20;32(7):1236. doi:
            10.1093/hmg/ddac294.. PMID: 36563328]
REFERENCE   3  (bases 1 to 3925)
  AUTHORS   Pinho,S.A., Costa,C.F., Deus,C.M., Pinho,S.L.C., Miranda-Santos,I.,
            Afonso,G., Bagshaw,O., Stuart,J.A., Oliveira,P.J. and
            Cunha-Oliveira,T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   4  (bases 1 to 3925)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 3925)
  AUTHORS   Chen,D., Zhang,X.Y. and Shi,Y.
  TITLE     Identification and functional characterization of hCLS1, a human
            cardiolipin synthase localized in mitochondria
  JOURNAL   Biochem J 398 (2), 169-176 (2006)
   PUBMED   16716149
  REMARK    GeneRIF: hCLS1 protein was localized to the mitochondria when
            transiently expressed in COS-7 cells
REFERENCE   6  (bases 1 to 3925)
  AUTHORS   Lu,B., Xu,F.Y., Jiang,Y.J., Choy,P.C., Hatch,G.M., Grunfeld,C. and
            Feingold,K.R.
  TITLE     Cloning and characterization of a cDNA encoding human cardiolipin
            synthase (hCLS1)
  JOURNAL   J Lipid Res 47 (6), 1140-1145 (2006)
   PUBMED   16547353
REFERENCE   7  (bases 1 to 3925)
  AUTHORS   Houtkooper,R.H., Akbari,H., van Lenthe,H., Kulik,W., Wanders,R.J.,
            Frentzen,M. and Vaz,F.M.
  TITLE     Identification and characterization of human cardiolipin synthase
  JOURNAL   FEBS Lett 580 (13), 3059-3064 (2006)
   PUBMED   16678169
  REMARK    GeneRIF: A human candidate gene/cDNA for cardiolipin synthase,
            C20orf155, was identified.
REFERENCE   8  (bases 1 to 3925)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 3925)
  AUTHORS   Johnson,E.M., Kinoshita,Y. and Daniel,D.C.
  TITLE     A new member of the MCM protein family encoded by the human MCM8
            gene, located contrapodal to GCD10 at chromosome band 20p12.3-13
  JOURNAL   Nucleic Acids Res 31 (11), 2915-2925 (2003)
   PUBMED   12771218
REFERENCE   10 (bases 1 to 3925)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035461.11 and KF456796.1.
            
            On May 17, 2019 this sequence version replaced NM_019095.5.
            
            Summary: This gene encodes a member of the CDP-alcohol
            phosphatidyltransferase class-I family of proteins. The encoded
            enzyme catalyzes the synthesis of cardiolipin, a phospholipid
            component of mitochondrial membranes that is critical for
            mitochondrial function. [provided by RefSeq, Apr 2016].
            
            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 :: AL832419.1, SRR1803615.150482.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378863.9/ ENSP00000368140.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-430               AL035461.11        99386-99815
            431-568             AL035461.11        103038-103175
            569-698             AL035461.11        108624-108753
            699-784             KF456796.1         195-280
            785-853             AL035461.11        125275-125343
            854-945             AL035461.11        127727-127818
            946-3925            AL035461.11        130337-133316
FEATURES             Location/Qualifiers
     source          1..3925
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.3"
     gene            1..3925
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /note="cardiolipin synthase 1"
                     /db_xref="GeneID:54675"
                     /db_xref="HGNC:HGNC:16148"
                     /db_xref="MIM:608188"
     exon            1..430
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..1030
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /EC_number="2.7.8.41"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cardiolipin synthase (CMP-forming)"
                     /codon_start=1
                     /product="cardiolipin synthase (CMP-forming) isoform 1"
                     /protein_id="NP_061968.1"
                     /db_xref="CCDS:CCDS13096.1"
                     /db_xref="GeneID:54675"
                     /db_xref="HGNC:HGNC:16148"
                     /db_xref="MIM:608188"
                     /translation="MLALRVARGSWGALRGAAWAPGTRPSKRRACWALLPPVPCCLGC
                     LAERWRLRPAALGLRLPGIGQRNHCSGAGKAAPRPAAGAGAAAEAPGGQWGPASTPSL
                     YENPWTIPNMLSMTRIGLAPVLGYLIIEEDFNIALGVFALAGLTDLLDGFIARNWANQ
                     RSALGSALDPLADKILISILYVSLTYADLIPVPLTYMIISRDVMLIAAVFYVRYRTLP
                     TPRTLAKYFNPCYATARLKPTFISKVNTAVQLILVAASLAAPVFNYADSIYLQILWCF
                     TAFTTAASAYSYYHYGRKTVQVIKD"
     exon            431..568
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /inference="alignment:Splign:2.1.0"
     exon            569..698
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /inference="alignment:Splign:2.1.0"
     exon            699..784
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /inference="alignment:Splign:2.1.0"
     exon            785..853
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /inference="alignment:Splign:2.1.0"
     exon            854..945
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /inference="alignment:Splign:2.1.0"
     exon            946..3925
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1239..1244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /note="hexamer: AATAAA"
     polyA_site      1265
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /note="major polyA site"
     regulatory      3899..3904
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
                     /note="hexamer: AATAAA"
     polyA_site      3925
                     /gene="CRLS1"
                     /gene_synonym="C20orf155; CLS; CLS1; COSPD57; dJ967N21.6;
                     GCD10"
ORIGIN      
        1 agtatggagg cagcggtagc ccagtgtctg agtggttgcc gggtctccat ggagaagcgg
       61 ctcgccagtg tcccaggctg ctgagctctc gccgcccgag accccgcggc gcggccgcag
      121 ggccatgcta gccttgcgcg tggcgcgcgg ctcgtggggg gccctgcgcg gcgccgcttg
      181 ggctccggga acgcggccga gtaagcgacg cgcctgctgg gccctgctgc cgcccgtgcc
      241 ctgctgcttg ggctgcctgg ccgaacgctg gaggctgcgt ccggccgctc ttggcttgcg
      301 gctgcccggg atcggccagc ggaaccactg ttcgggcgcg gggaaggcgg ctcccaggcc
      361 agcggccgga gcgggcgccg ctgccgaagc cccgggcggc cagtggggcc cggcgagcac
      421 ccccagcctg tatgaaaacc catggacaat cccgaatatg ttgtcaatga cgagaattgg
      481 cttggcccca gttctgggct atttgattat tgaagaagat tttaatattg cactaggagt
      541 ttttgcttta gctggactaa cagatttgtt ggatggattt attgctcgaa actgggccaa
      601 tcaaagatca gctttgggaa gtgctcttga tccacttgct gataaaatac ttatcagtat
      661 cttatatgtt agcttgacct atgcagatct tattccagtt ccacttactt acatgatcat
      721 ttcgagagat gtaatgttga ttgctgctgt tttttatgtc agataccgaa ctcttccaac
      781 accacgaaca cttgccaagt atttcaatcc ttgctatgcc actgctaggt taaaaccaac
      841 attcatcagc aaggtgaata cagcagtcca gttaatcttg gtggcagctt ctttggcagc
      901 tccagttttc aactatgctg acagcattta tcttcagata ctatggtgtt ttacagcttt
      961 caccacagct gcatcagctt atagttacta tcattatggc cggaagactg ttcaggtgat
     1021 aaaagactga tgaaagtcat ccctcactgt tagtaaggaa gcagtataca tcaatgggaa
     1081 cagggcccat ggaaatgtac aggagtttcc ctattttggt gttcagcttg aaaaaggact
     1141 tgtcagaatc aactgtgtca tcaaaattta agtaatgtgc attgaaaata aggttgatca
     1201 tgggaatatg cagaatttcc aatgtatttt taaatacaaa taaaattgta atttagaatt
     1261 tttaatctta ggtttcttga ttaatttata agagatcaat tattgtcagt cttttttgta
     1321 tgttttttaa aaacatagtc cagagcatgg gcagaattga cacctctctt ttaagtgaaa
     1381 tttggattgc tcacaaagca ctaggaaatg tcatggggtt caaatatata tcctacacaa
     1441 ctgggcaata catttttgtt tgatttttag gtctgtgtat acattaacag ttcatgtaat
     1501 taatacctga tcatttggga taatgaaagt gaagttagtt gtagatgaag taaagttata
     1561 aaagagatta aaaatgcggt aactttttaa gataataatc atacagaagg tatgaagttc
     1621 attttcggta gtcttccaac ctctcaggtg cctaataatt tatgtttgag gataacaggt
     1681 aacaaagata gtcgagatag gagaacgtgt ctattagtct ttgcatctaa aaggcagtga
     1741 gttacgttcc tgccttccac tgtgtttctg acatagcaat gtttgtttga tattggaacc
     1801 tggattcata ttttatgtaa ataatatcaa gctgtatatt tttcaaaggt tttttaaact
     1861 ttggagactc tttcttttgt taagcagtta aaggaataaa agagctggaa aaaaaattgt
     1921 accttcaact caggttgttc catataacat acgtattctc tgctgttacg taagttttcc
     1981 gattcacaga gtccattcat gtacatcact tacacttaaa ttgtaaaaat aattagtctg
     2041 accatctgac tttaaaagac tgttgctaca cgtacatcat gtttaggaga atgtgggata
     2101 tggggaaggg gagaagaaga cagtccagtg gtgactagtt gctgctgctt aacctatggc
     2161 ctattgctgc ccattgtccc tggttttaat ccaagcctat tatggaatac tgcagtgaga
     2221 ttatccattc tcagcctgtt gagctgcatt aaattagaat gggaggctgt aagtaaaact
     2281 catgcctctt ggccaggcat tctgcaccag cgtgtccctc tgtggcttgc tggtcctggt
     2341 tgttctcaga ctggcagctg agctgcgctt ggcttgaagc atactgaagc ctgcagccag
     2401 ggacaccgcc attgaatcag atggaggggg atgaaaaagc agagaagggg gcatgtggct
     2461 ggctattctt gctctctgga gaacagcttc attgttagga gtagttaggc tgaaagtgga
     2521 cttcccactg ctgagccacc caagaggcac actgagcatt agtgacgggt gagccacata
     2581 agaataatgt ttaaaaaaga gaggacttga agtagctatg cgaaaattta gaactttgca
     2641 ctttgttaac gcttatttat ggtttagtgt tgatgccatt tggagtgacc tatgggttgg
     2701 acccatatct ttttattatt aaggtctcaa tctggctctg gttaataaac gtttcccgct
     2761 tcatccctta ggaaaatggt ccaagtctcc tcaggctttt ggatactgaa ttgttataaa
     2821 acacatcaat tctgccagtt tataaaacac tggaattgta ttagacatgt ctgagtatgt
     2881 acttgtttat agactcaaaa catgatgaaa attcatttca ttgtcttcac tgaatagact
     2941 taaccttgac agtaagctta aagcattagt gtcatttaat tacatgtctg aggaatttat
     3001 gctaactaga ttttgggctt ttgcagcgaa ttttagtcgg ggcctcattc ctgagcccaa
     3061 gtgacccttt cacctcagct tcccaagtag ctgggattac aggtgcacac caactgtgct
     3121 ttgcagtttt gtttgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtattt
     3181 tgtttttttt acaagcccac aacatcatag ctttgcagtt tttaaccagg agctggtgga
     3241 gatctttgaa atcatttagg ccaattcttt tagttacatt tatgatgaaa ctagggatct
     3301 accttaaagt tttgggaagc tctttcaaaa cttcagacac ctagaaatat atatagtgca
     3361 gttcagtttt agtttctgca gcatggtttg gaaacaaaag atacatagga tttaaactcg
     3421 atttgttttc ttcttacagt agaagtaaat gctcttgtgg cttgaatcgc atctcccaag
     3481 aaagatacgt tcacgttcaa acccccagta ctgtacatgt gaccttattt ggaaataggg
     3541 tctttttaga tgcagtcaag atagaattag atcatactgg attacagtgg gccccaataa
     3601 ctaggttttt ttgttaaaaa aaaaaaaaaa ggaaatgtga acagagagag aatgccgtga
     3661 gatgatggag ggatagattg gaatgatgtc tgcgagctaa ggaatactga ggattgctgc
     3721 caaccatccg aagctgggag aggagatgga acaactccct cggagcctcc aagaggaacc
     3781 aaccccactg atgctttgat ttgggatttc cggcctgaac tgtaggaaaa taaatttctg
     3841 ttcttttaag ccatttttac cagtttgtgg taacttgtta cagcagctgc aggaaattaa
     3901 taaatgccaa tgttgaaaat taaaa
//
