CRLS1 (cardiolipin synthase 1)

2014-08-01  

Identity

HGNC
LOCATION
20p12.3
LOCUSID
ALIAS
C20orf155,CLS,CLS1,GCD10,dJ967N21.6
FUSION GENES

Other Information

Locus ID:

NCBI: 54675
MIM: 608188
HGNC: 16148
Ensembl: ENSG00000088766

Variants:

dbSNP: 54675
ClinVar: 54675
TCGA: ENSG00000088766
COSMIC: CRLS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088766ENST00000378863Q9UJA2
ENSG00000088766ENST00000378868Q9UJA2
ENSG00000088766ENST00000452938Q6NTG3

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodelling of PGREACTOMER-HSA-1482925
Synthesis of CLREACTOMER-HSA-1483076

References

Pubmed IDYearTitleCitations
168886432007Cardiolipin deficiency releases cytochrome c from the inner mitochondrial membrane and accelerates stimuli-elicited apoptosis.54
166781692006Identification and characterization of human cardiolipin synthase.36
167161492006Identification and functional characterization of hCLS1, a human cardiolipin synthase localized in mitochondria.34
190484142009Renal involvement in the antiphospholipid syndrome (APS)-APS nephropathy.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
225845712012Myocardial regulation of lipidomic flux by cardiolipin synthase: setting the beat for bioenergetic efficiency.16
190896592009Infections and the antiphospholipid syndrome.11
190896572009Revisiting Libman-Sacks endocarditis: a historical review and update.10
190484162009Malignancies and catastrophic anti-phospholipid syndrome.4
190529232009Clinical and laboratory features of the catastrophic antiphospholipid syndrome.2

Citation

Dessen P

CRLS1 (cardiolipin synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54238/crls1