Human Gene CRLS1 (ENST00000378863.9_10) from GENCODE V47lift37
  Description: cardiolipin synthase 1, transcript variant 1 (from RefSeq NM_019095.6)
Gencode Transcript: ENST00000378863.9_10
Gencode Gene: ENSG00000088766.12_14
Transcript (Including UTRs)
   Position: hg19 chr20:5,986,769-6,020,699 Size: 33,931 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr20:5,986,893-6,017,804 Size: 30,912 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:5,986,769-6,020,699)mRNA (may differ from genome)Protein (301 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CRLS1_HUMAN
DESCRIPTION: RecName: Full=Cardiolipin synthase; Short=CLS; EC=2.7.8.-; AltName: Full=Protein GCD10 homolog;
FUNCTION: Catalyzes the reversible phosphatidyl group transfer from one phosphatidylglycerol molecule to another to form cardiolipin (CL) (diphosphatidylglycerol) and glycerol.
CATALYTIC ACTIVITY: 2 Phosphatidylglycerol = diphosphatidylglycerol + glycerol.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Highly expressed in tissues such as heart, skeletal muscle and liver.
SIMILARITY: Belongs to the CDP-alcohol phosphatidyltransferase class-I family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CRLS1
Diseases sorted by gene-association score: catastrophic antiphospholipid syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.22 RPKM in Liver
Total median expression: 400.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.30124-0.462 Picture PostScript Text
3' UTR -749.302895-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000462 - CDP-OH_P_trans

Pfam Domains:
PF01066 - CDP-alcohol phosphatidyltransferase

ModBase Predicted Comparative 3D Structure on Q9UJA2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity
GO:0008808 cardiolipin synthase activity
GO:0016740 transferase activity
GO:0016780 phosphotransferase activity, for other substituted phosphate groups
GO:0043337 CDP-diacylglycerol-phosphatidylglycerol phosphatidyltransferase activity
GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0008654 phospholipid biosynthetic process
GO:0032049 cardiolipin biosynthetic process
GO:0036148 phosphatidylglycerol acyl-chain remodeling
GO:0097068 response to thyroxine
GO:1905711 response to phosphatidylethanolamine

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  BC069010 - Homo sapiens cardiolipin synthase 1, mRNA (cDNA clone MGC:78525 IMAGE:5092704), complete cds.
AF241784 - Homo sapiens CAPTase-iso mRNA, complete cds.
BC015333 - Homo sapiens cDNA clone IMAGE:4426118, **** WARNING: chimeric clone ****.
AB463464 - Synthetic construct DNA, clone: pF1KB6390, Homo sapiens CRLS1 gene for cardiolipin synthase 1, without stop codon, in Flexi system.
DQ386730 - Homo sapiens cardiolipin synthase (CLS1) gene, complete cds.
AL832419 - Homo sapiens mRNA; cDNA DKFZp762C112 (from clone DKFZp762C112).
AK310368 - Homo sapiens cDNA, FLJ17410.
JD330373 - Sequence 311397 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5269 - cardiolipin biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9UJA2 (Reactome details) participates in the following event(s):

R-HSA-1482689 1-acyl LPG is acylated to PG by CRLS1 (IM)
R-HSA-1482546 2-acyl LPG is acylated to PG by CRLS1 (IM)
R-HSA-1483063 PG and CDP-DAG are converted to CL by CRLS1
R-HSA-1482925 Acyl chain remodelling of PG
R-HSA-1483076 Synthesis of CL
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: C20orf155, CLS1, CRLS1_HUMAN, D3DW09, E9PAT4, ENST00000378863.1, ENST00000378863.2, ENST00000378863.3, ENST00000378863.4, ENST00000378863.5, ENST00000378863.6, ENST00000378863.7, ENST00000378863.8, NM_019095, Q27RP0, Q69YQ5, Q9UJA2, uc318oow.1, uc318oow.2
UCSC ID: ENST00000378863.9_10
RefSeq Accession: NM_019095.6
Protein: Q9UJA2 (aka CRLS1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.