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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
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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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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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