Gene Gene information from NCBI Gene database.
Entrez ID 54675
Gene name Cardiolipin synthase 1
Gene symbol CRLS1
Synonyms (NCBI Gene)
C20orf155CLSCLS1COSPD57GCD10dJ967N21.6
Chromosome 20
Chromosome location 20p12.3
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. [
miRNA miRNA information provided by mirtarbase database.
326
miRTarBase ID miRNA Experiments Reference
MIRT025804 hsa-miR-7-5p Sequencing 20371350
MIRT629475 hsa-miR-548a-3p HITS-CLIP 22927820
MIRT629474 hsa-miR-548ar-3p HITS-CLIP 22927820
MIRT629473 hsa-miR-548az-3p HITS-CLIP 22927820
MIRT629472 hsa-miR-548e-3p HITS-CLIP 22927820
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 38322995
GO:0005739 Component Mitochondrion IDA 16716149
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608188 16148 ENSG00000088766
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJA2
Protein name Cardiolipin synthase (CMP-forming) (CLS) (EC 2.7.8.41) (Protein GCD10 homolog)
Protein function Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG) (PubMed:16547353, PubMed:16678169, PubMed:16716149, PubMed:35147173). CL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01066 CDP-OH_P_transf 108 173 CDP-alcohol phosphatidyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in tissues such as heart, skeletal muscle and liver. {ECO:0000269|PubMed:16547353}.
Sequence
MLALRVARGSWGALRGAAWAPGTRPSKRRACWALLPPVPCCLGCLAERWRLRPAALGLRL
PGIGQRNHCSGAGKAAPRPAAGAGAAAEAPGGQWGPASTPSLYENPWTIPNMLSMTRIGL
APVLGYLIIEEDFNIALGVFALAGLTDLLDGFIARNWANQRSALGSALDPLAD
KILISIL
YVSLTYADLIPVPLTYMIISRDVMLIAAVFYVRYRTLPTPRTLAKYFNPCYATARLKPTF
ISKVNTAVQLILVAASLAAPVFNYADSIYLQILWCFTAFTTAASAYSYYHYGRKTVQVIK
D
Sequence length 301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism
Metabolic pathways
  Acyl chain remodelling of PG
Synthesis of CL
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 57 Pathogenic rs1568615047, rs759395960, rs764608497 RCV003152310
RCV003152311
RCV003152312
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Fatty Liver Associate 30270343
★☆☆☆☆
Found in Text Mining only
Leigh Disease Associate 19542079
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 34099597
★☆☆☆☆
Found in Text Mining only
Mitochondrial complex I deficiency Associate 19542079
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Associate 37552373
★☆☆☆☆
Found in Text Mining only
Non alcoholic Fatty Liver Disease Associate 30270343
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Associate 37259036
★☆☆☆☆
Found in Text Mining only