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CRLS1 cardiolipin synthase 1 [ Homo sapiens (human) ]

Gene ID: 54675, updated on 16-Jul-2016
Official Symbol
CRLS1provided by HGNC
Official Full Name
cardiolipin synthase 1provided by HGNC
Primary source
HGNC:HGNC:16148
See related
Ensembl:ENSG00000088766 HPRD:12187; MIM:608188; Vega:OTTHUMG00000031823
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; 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]
Orthologs
Location:
20p13-p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (6005938..6040053)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (5986739..6020699)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance 8 homologous recombination repair factor Neighboring gene MCM8 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 498, pseudogene Neighboring gene leucine rich repeat neuronal 4 Neighboring gene fermitin family member 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Acyl chain remodelling of PG, organism-specific biosystem (from REACTOME)
    Acyl chain remodelling of PG, organism-specific biosystemIn the acyl chain remodelling pathway (Lands cycle), phosphatidylglycerol (PG) is hydrolyzed by phopholipases and subsequently reacylated by acyltransferases. These cycles modify the fatty acid comp...
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
    Glycerophospholipid metabolism, organism-specific biosystem
    Glycerophospholipid metabolism
  • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
    Glycerophospholipid metabolism, conserved biosystem
    Glycerophospholipid metabolism
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of CL, organism-specific biosystem (from REACTOME)
    Synthesis of CL, organism-specific biosystemCardiolipin(CL) is synthesized in the inner mitochondrial membrane (IM), when phosphatidylglycerol (PG) and cytidine diphosphate-diacylglycerol (CDP-DAG) are converted into CL (Lu et al. 2006, Houtko...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiolipin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
cardiolipin biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylglycerol acyl-chain remodeling TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
cardiolipin synthase (CMP-forming)
NP_001120930.1
NP_001310490.1
NP_001310491.1
NP_001310492.1
NP_001310493.1
NP_061968.1

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_001127458.1NP_001120930.1  cardiolipin synthase (CMP-forming) isoform 2

    See identical proteins and their annotated locations for NP_001120930.1

    Status: VALIDATED

    Source sequence(s)
    AK310368, AL832419, BP368984
    Consensus CDS
    CCDS46578.1
    UniProtKB/Swiss-Prot
    Q9UJA2
    Related
    ENSP00000368145, OTTHUMP00000274067, ENST00000378868, OTTHUMT00000471915
    Conserved Domains (1) summary
    COG0558
    Location:8198
    PgsA; Phosphatidylglycerophosphate synthase [Lipid transport and metabolism]
  2. NM_001323561.1NP_001310490.1  cardiolipin synthase (CMP-forming) isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL832419, BM563835, BP368984
    UniProtKB/Swiss-Prot
    Q9UJA2
  3. NM_001323562.1NP_001310491.1  cardiolipin synthase (CMP-forming) isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL035461, AL832419, HY011345, KF456796
    UniProtKB/Swiss-Prot
    Q9UJA2
  4. NM_001323563.1NP_001310492.1  cardiolipin synthase (CMP-forming) isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL035461, AL832419, BI553536, HY011345, KF456796
    UniProtKB/Swiss-Prot
    Q9UJA2
  5. NM_001323564.1NP_001310493.1  cardiolipin synthase (CMP-forming) isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL035461, AL832419, BU852955
    UniProtKB/Swiss-Prot
    Q9UJA2
  6. NM_019095.5NP_061968.1  cardiolipin synthase (CMP-forming) isoform 1

    See identical proteins and their annotated locations for NP_061968.1

    Status: REVIEWED

    Source sequence(s)
    AF241784, AL832419, BM763234, HY011345
    Consensus CDS
    CCDS13096.1
    UniProtKB/Swiss-Prot
    Q9UJA2
    Related
    ENSP00000368140, OTTHUMP00000030219, ENST00000378863, OTTHUMT00000077902
    Conserved Domains (1) summary
    COG0558
    Location:107297
    PgsA; Phosphatidylglycerophosphate synthase [Lipid transport and metabolism]

RNA

  1. NR_136617.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL832419, BC069010, BI553536, HY011345
    Related
    ENST00000452938

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011529263.1XP_011527565.1  

    Conserved Domains (1) summary
    COG0558
    Location:107193
    PgsA; Phosphatidylglycerophosphate synthase [Lipid transport and metabolism]
  2. XM_005260738.4XP_005260795.1  

    See identical proteins and their annotated locations for XP_005260795.1

    Conserved Domains (1) summary
    COG0558
    Location:1186
    PgsA; Phosphatidylglycerophosphate synthase [Lipid transport and metabolism]

RNA

  1. XR_001754297.1 RNA Sequence

  2. XR_001754298.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    5986657..6020722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)