1. Gene
  2. CRLS1 - cardiolipin synthase 1 Gene

CRLS1 - cardiolipin synthase 1 Gene

Homo sapiens

Also known as CLS; CLS1; GCD10; C20orf155; dJ967N21.6

Gene ID: 54675 | Gene type: protein coding

About CRLS1

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:6,005,938-6,040,053 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues and 1 paralogue. Ubiquitous expression in liver (RPKM 13.5), lung (RPKM 13.1) and 25 other tissues.

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]

CRLS1 Products(6)

mRNA Protein Name
NM_001127458.2 NP_001120930.1 cardiolipin synthase (CMP-forming) isoform 2
NM_001323561.2 NP_001310490.1 cardiolipin synthase (CMP-forming) isoform 3
NM_001323562.2 NP_001310491.1 cardiolipin synthase (CMP-forming) isoform 3
NM_001323563.2 NP_001310492.1 cardiolipin synthase (CMP-forming) isoform 3
NM_001323564.2 NP_001310493.1 cardiolipin synthase (CMP-forming) isoform 3
NM_019095.6 NP_061968.1 cardiolipin synthase (CMP-forming) isoform 1

CRLS1 Protein Structure

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (107 - 203)

  • 0
  • 100
  • 200
  • 301 a.a.
Protein Preferred Names Protein Names

cardiolipin synthase (CMP-forming)

Related Diseases

Diseases Alias
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CRLS1 VGNC VGNC:27719
Macaca mulatta CRLS1 VGNC VGNC:71419
Rattus norvegicus CRLS1 RGD RGD:1311037
Canis familiaris CRLS1 VGNC VGNC:39623
Mus musculus CRLS1 MGD MGI:1913836
Felis catus CRLS1 VGNC VGNC:61185