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    CRLS1 cardiolipin synthase 1 [ Homo sapiens (human) ]

    Gene ID: 54675, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CRLS1provided by HGNC
    Official Full Name
    cardiolipin synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:16148
    See related
    Ensembl:ENSG00000088766 MIM:608188; AllianceGenome:HGNC:16148
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLS; CLS1; GCD10; COSPD57; C20orf155; dJ967N21.6
    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]
    Expression
    Ubiquitous expression in liver (RPKM 13.5), lung (RPKM 13.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (6005938..6040053)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (6046248..6080373)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (5986584..6020699)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17533 Neighboring gene minichromosome maintenance 8 homologous recombination repair factor Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:5950104-5950670 Neighboring gene MCM8 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:5986511-5987012 Neighboring gene RNA, 7SL, cytoplasmic 498, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14083 Neighboring gene leucine rich repeat neuronal 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:6033043-6033844 Neighboring gene uncharacterized LOC124904865

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Lee RG, et al. Hum Mol Genet, 2022 Oct 28. PMID 35147173, Free PMC Article
    2. Infections and the antiphospholipid syndrome. García-Carrasco M, et al. Clin Rev Allergy Immunol, 2009 Jun. PMID 19089659
    3. Malignancies and catastrophic anti-phospholipid syndrome. Miesbach W. Clin Rev Allergy Immunol, 2009 Jun. PMID 19048416
    4. Renal involvement in the antiphospholipid syndrome (APS)-APS nephropathy. Tektonidou MG. Clin Rev Allergy Immunol, 2009 Jun. PMID 19048414
    5. Cardiolipin deficiency releases cytochrome c from the inner mitochondrial membrane and accelerates stimuli-elicited apoptosis. Choi SY, et al. Cell Death Differ, 2007 Mar. PMID 16888643

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
      Title: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
    2. LINC01272 Suppressed Cell Multiplication and Induced Apoptosis Via Regulating MiR-7-5p/CRLS1 Axis in Lung Cancer.
      Title: LINC01272 Suppressed Cell Multiplication and Induced Apoptosis Via Regulating MiR-7-5p/CRLS1 Axis in Lung Cancer.
    3. Functionally, LINC00961 overexpression obviously inhibited cell proliferation, migration, and invasion in hepatocellular carcinoma cells. Mechanistically, LINC00961 regulated cardiolipin synthase 1 expression via sponging miR-5581-3p.
      Title: Small regulatory polypeptide of amino acid response negatively relates to poor prognosis and controls hepatocellular carcinoma progression via regulating microRNA-5581-3p/human cardiolipin synthase 1.
    4. Knockdown of human CRLS1 leads to a cardiolipin decrease, phosphatidylglycerol accumulation and mitochondrial elongation.
      Title: Inactivation of cardiolipin synthase triggers changes in mitochondrial morphology.
    5. transgenic expression of cardiolipin synthase attenuated maladaptive cardiolipin remodeling and bioenergetic inefficiency in myocardium rendered diabetic by streptozotocin treatment.
      Title: Myocardial regulation of lipidomic flux by cardiolipin synthase: setting the beat for bioenergetic efficiency.
    6. CLS mRNA levels cannot be correlated with CLS enzyme activity nor CL content in the LPS model of inflammation.
      Title: Cardiolipin synthase-1 mRNA expression does not correlate with endogenous cardiolipin synthase enzyme activity in vitro and in vivo in mammalian lipopolysaccharide models of inflammation.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. antibodies occur frequently in viral infections, particularly, in HIV but not in bacterial infections
      Title: Infections and the antiphospholipid syndrome.
    9. associated with Libman-Sacks endocarditis, cardiac manifestation of SLE
      Title: Revisiting Libman-Sacks endocarditis: a historical review and update.
    10. Patients with solid and non-solid malignancies display anticardiolipin antibodies associated with increased rate of thrombosis
      Title: Malignancies and catastrophic anti-phospholipid syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 57
    MedGen: C5774275 OMIM: 620167 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables 2-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables cardiolipin synthase (CMP-forming) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cardiolipin synthase (CMP-forming) IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cardiolipin synthase (CMP-forming) IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables cardiolipin synthase (CMP-forming) TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in cardiolipin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiolipin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cardiolipin biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylglycerol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
    		  
    involved_in response to phosphatidylethanolamine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to thyroxine IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cardiolipin synthase (CMP-forming)
    NP_001120930.1
    NP_001310490.1
    NP_001310491.1
    NP_001310492.1
    NP_001310493.1
    NP_061968.1
    XP_005260795.1
    XP_011527565.1
    XP_047296180.1
    XP_047296181.1
    XP_054179527.1
    XP_054179528.1
    XP_054179529.1
    XP_054179530.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001127458.2 → NP_001120930.1  cardiolipin synthase (CMP-forming) isoform 2

      See identical proteins and their annotated locations for NP_001120930.1

      Status: REVIEWED

      Source sequence(s)
      AK310368, AL035461, AL832419, BP368984
      Consensus CDS
      CCDS46578.1
      UniProtKB/Swiss-Prot
      Q9UJA2
      Related
      ENSP00000368145.3, ENST00000378868.4
      Conserved Domains (1) summary
      PLN02794
      Location:10 → 189
      PLN02794; cardiolipin synthase

    2. NM_001323561.2 → NP_001310490.1  cardiolipin synthase (CMP-forming) isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL035461, AL832419, BM563835, BP368984
      UniProtKB/Swiss-Prot
      Q9UJA2
      Conserved Domains (1) summary
      PLN02794
      Location:1 → 177
      PLN02794; cardiolipin synthase

    3. NM_001323562.2 → NP_001310491.1  cardiolipin synthase (CMP-forming) isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL035461, KF456796
      UniProtKB/Swiss-Prot
      Q9UJA2
      Conserved Domains (1) summary
      PLN02794
      Location:1 → 177
      PLN02794; cardiolipin synthase

    4. NM_001323563.2 → NP_001310492.1  cardiolipin synthase (CMP-forming) isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL035461, KF456796
      UniProtKB/Swiss-Prot
      Q9UJA2
      Conserved Domains (1) summary
      PLN02794
      Location:1 → 177
      PLN02794; cardiolipin synthase

    5. NM_001323564.2 → NP_001310493.1  cardiolipin synthase (CMP-forming) isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL035461, AL832419, BU852955
      UniProtKB/Swiss-Prot
      Q9UJA2
      Conserved Domains (1) summary
      PLN02794
      Location:1 → 177
      PLN02794; cardiolipin synthase

    6. NM_019095.6 → NP_061968.1  cardiolipin synthase (CMP-forming) isoform 1

      See identical proteins and their annotated locations for NP_061968.1

      Status: REVIEWED

      Source sequence(s)
      AL035461, KF456796
      Consensus CDS
      CCDS13096.1
      UniProtKB/Swiss-Prot
      D3DW09, E9PAT4, Q27RP0, Q69YQ5, Q9UJA2
      Related
      ENSP00000368140.4, ENST00000378863.9
      Conserved Domains (1) summary
      PLN02794
      Location:101 → 288
      PLN02794; cardiolipin synthase

    RNA

    1. NR_136617.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL035461
      Related
      ENST00000452938.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      6005938..6040053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529263.3 → XP_011527565.1  cardiolipin synthase (CMP-forming) isoform X2

      UniProtKB/TrEMBL
      Q6NTG3
      Conserved Domains (1) summary
      COG0558
      Location:107 → 193
      PgsA; Phosphatidylglycerophosphate synthase [Lipid transport and metabolism]

    2. XM_047440224.1 → XP_047296180.1  cardiolipin synthase (CMP-forming) isoform X1

    3. XM_047440225.1 → XP_047296181.1  cardiolipin synthase (CMP-forming) isoform X4

    4. XM_005260738.5 → XP_005260795.1  cardiolipin synthase (CMP-forming) isoform X3

      See identical proteins and their annotated locations for XP_005260795.1

      Conserved Domains (1) summary
      PLN02794
      Location:1 → 177
      PLN02794; cardiolipin synthase

    RNA

    1. XR_007067457.1 RNA Sequence

    2. XR_007067458.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      6046248..6080373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323553.1 → XP_054179528.1  cardiolipin synthase (CMP-forming) isoform X2

    2. XM_054323552.1 → XP_054179527.1  cardiolipin synthase (CMP-forming) isoform X1

    3. XM_054323555.1 → XP_054179530.1  cardiolipin synthase (CMP-forming) isoform X4

    4. XM_054323554.1 → XP_054179529.1  cardiolipin synthase (CMP-forming) isoform X3

    RNA

    1. XR_008485262.1 RNA Sequence

    2. XR_008485263.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJA2.1 GenPept UniProtKB/Swiss-Prot:Q9UJA2

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