ID CRLS1_HUMAN Reviewed; 301 AA.
AC Q9UJA2; D3DW09; E9PAT4; Q27RP0; Q69YQ5;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 29-MAY-2013, entry version 93.
DE RecName: Full=Cardiolipin synthase;
DE Short=CLS;
DE EC=2.7.8.-;
DE AltName: Full=Protein GCD10 homolog;
GN Name=CRLS1; Synonyms=C20orf155, CLS1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND FUNCTION.
RX PubMed=16678169; DOI=10.1016/j.febslet.2006.04.054;
RA Houtkooper R.H., Akbari H., van Lenthe H., Kulik W., Wanders R.J.A.,
RA Frentzen M., Vaz F.M.;
RT "Identification and characterization of human cardiolipin synthase.";
RL FEBS Lett. 580:3059-3064(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Liver cancer;
RA Cheng Z., Gao G., Peng Y., Ren S., Chen Z., Han Z.;
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 28-301 (ISOFORM 1).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=16547353; DOI=10.1194/jlr.C600004-JLR200;
RA Lu B., Xu F.Y., Jiang Y.J., Choy P.C., Hatch G.M., Grunfeld C.,
RA Feingold K.R.;
RT "Cloning and characterization of a cDNA encoding human cardiolipin
RT synthase (hCLS1).";
RL J. Lipid Res. 47:1140-1145(2006).
CC -!- FUNCTION: Catalyzes the reversible phosphatidyl group transfer
CC from one phosphatidylglycerol molecule to another to form
CC cardiolipin (CL) (diphosphatidylglycerol) and glycerol.
CC -!- CATALYTIC ACTIVITY: 2 Phosphatidylglycerol =
CC diphosphatidylglycerol + glycerol.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass
CC membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UJA2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UJA2-2; Sequence=VSP_041398, VSP_041399;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Highly expressed in tissues such as heart,
CC skeletal muscle and liver.
CC -!- SIMILARITY: Belongs to the CDP-alcohol phosphatidyltransferase
CC class-I family.
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DR EMBL; DQ386730; ABD46888.1; -; mRNA.
DR EMBL; AF241784; AAG44472.1; -; mRNA.
DR EMBL; AL035461; CAB55278.1; -; Genomic_DNA.
DR EMBL; CH471133; EAX10401.1; -; Genomic_DNA.
DR EMBL; CH471133; EAX10402.1; -; Genomic_DNA.
DR EMBL; AL832419; CAH10649.1; -; mRNA.
DR IPI; IPI00005167; -.
DR IPI; IPI00895872; -.
DR RefSeq; NP_001120930.1; NM_001127458.1.
DR RefSeq; NP_061968.1; NM_019095.4.
DR UniGene; Hs.743956; -.
DR ProteinModelPortal; Q9UJA2; -.
DR STRING; 9606.ENSP00000368140; -.
DR PhosphoSite; Q9UJA2; -.
DR DMDM; 37537857; -.
DR PaxDb; Q9UJA2; -.
DR PRIDE; Q9UJA2; -.
DR Ensembl; ENST00000378863; ENSP00000368140; ENSG00000088766.
DR Ensembl; ENST00000378868; ENSP00000368145; ENSG00000088766.
DR GeneID; 54675; -.
DR KEGG; hsa:54675; -.
DR UCSC; uc002wmn.4; human.
DR UCSC; uc010gbr.3; human.
DR CTD; 54675; -.
DR GeneCards; GC20P005986; -.
DR HGNC; HGNC:16148; CRLS1.
DR MIM; 608188; gene.
DR neXtProt; NX_Q9UJA2; -.
DR PharmGKB; PA25697; -.
DR eggNOG; COG0558; -.
DR HOGENOM; HOG000010898; -.
DR HOVERGEN; HBG051203; -.
DR InParanoid; Q9UJA2; -.
DR KO; K08744; -.
DR OMA; SRYFNPC; -.
DR OrthoDB; EOG4RV2S8; -.
DR PhylomeDB; Q9UJA2; -.
DR Reactome; REACT_111217; Metabolism.
DR ChiTaRS; CRLS1; human.
DR GenomeRNAi; 54675; -.
DR NextBio; 57228; -.
DR ArrayExpress; Q9UJA2; -.
DR Bgee; Q9UJA2; -.
DR CleanEx; HS_CRLS1; -.
DR Genevestigator; Q9UJA2; -.
DR GermOnline; ENSG00000088766; Homo sapiens.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0016780; F:phosphotransferase activity, for other substituted phosphate groups; IEA:InterPro.
DR GO; GO:0032049; P:cardiolipin biosynthetic process; TAS:Reactome.
DR GO; GO:0036148; P:phosphatidylglycerol acyl-chain remodeling; TAS:Reactome.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR InterPro; IPR000462; CDP-OH_P_trans.
DR Pfam; PF01066; CDP-OH_P_transf; 1.
DR PROSITE; PS00379; CDP_ALCOHOL_P_TRANSF; FALSE_NEG.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Lipid biosynthesis;
KW Lipid metabolism; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Phospholipid biosynthesis;
KW Phospholipid metabolism; Reference proteome; Transferase;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1 301 Cardiolipin synthase.
FT /FTId=PRO_0000056816.
FT TRANSMEM 109 129 Helical; (Potential).
FT TRANSMEM 133 153 Helical; (Potential).
FT TRANSMEM 190 212 Helical; (Potential).
FT TRANSMEM 250 270 Helical; (Potential).
FT TRANSMEM 272 292 Helical; (Potential).
FT VAR_SEQ 1 99 Missing (in isoform 2).
FT /FTId=VSP_041398.
FT VAR_SEQ 100 102 PSL -> MPQ (in isoform 2).
FT /FTId=VSP_041399.
SQ SEQUENCE 301 AA; 32593 MW; 15CD406D29D3C405 CRC64;
MLALRVARGS WGALRGAAWA PGTRPSKRRA CWALLPPVPC CLGCLAERWR LRPAALGLRL
PGIGQRNHCS GAGKAAPRPA AGAGAAAEAP GGQWGPASTP SLYENPWTIP NMLSMTRIGL
APVLGYLIIE EDFNIALGVF ALAGLTDLLD GFIARNWANQ RSALGSALDP LADKILISIL
YVSLTYADLI PVPLTYMIIS RDVMLIAAVF YVRYRTLPTP RTLAKYFNPC YATARLKPTF
ISKVNTAVQL ILVAASLAAP VFNYADSIYL QILWCFTAFT TAASAYSYYH YGRKTVQVIK
D
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