Format

Send to:

Choose Destination

CRLS1 cardiolipin synthase 1 [ Homo sapiens (human) ]

Gene ID: 54675, updated on 11-Jun-2021

Summary

Official Symbol
CRLS1provided by HGNC
Official Full Name
cardiolipin synthase 1provided by HGNC
Primary source
HGNC:HGNC:16148
See related
Ensembl:ENSG00000088766 MIM:608188
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]
Expression
Ubiquitous expression in liver (RPKM 13.5), lung (RPKM 13.1) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CRLS1 in Genome Data Viewer
Location:
20p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (6005938..6040053)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (5986584..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 Sharpr-MPRA regulatory region 14083 Neighboring gene RNA, 7SL, cytoplasmic 498, pseudogene Neighboring gene leucine rich repeat neuronal 4 Neighboring gene FERM domain containing kindlin 1 Neighboring gene TARDBP pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CDP-diacylglycerol-phosphatidylglycerol phosphatidyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables cardiolipin synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cardiolipin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiolipin biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in glycerophospholipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
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
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001127458.2NP_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:10189
    PLN02794; cardiolipin synthase
  2. NM_001323561.2NP_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:1177
    PLN02794; cardiolipin synthase
  3. NM_001323562.2NP_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:1177
    PLN02794; cardiolipin synthase
  4. NM_001323563.2NP_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:1177
    PLN02794; cardiolipin synthase
  5. NM_001323564.2NP_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:1177
    PLN02794; cardiolipin synthase
  6. NM_019095.6NP_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
    Q9UJA2
    Related
    ENSP00000368140.4, ENST00000378863.9
    Conserved Domains (1) summary
    PLN02794
    Location:101288
    PLN02794; cardiolipin synthase

RNA

  1. NR_136617.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL035461
    Related
    ENST00000452938.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011529263.2XP_011527565.1  cardiolipin synthase (CMP-forming) isoform X1

    Conserved Domains (1) summary
    COG0558
    Location:107193
    PgsA; Phosphatidylglycerophosphate synthase [Lipid transport and metabolism]
  2. XM_005260738.4XP_005260795.1  cardiolipin synthase (CMP-forming) isoform X2

    See identical proteins and their annotated locations for XP_005260795.1

    Conserved Domains (1) summary
    PLN02794
    Location:1177
    PLN02794; cardiolipin synthase

RNA

  1. XR_001754297.2 RNA Sequence

  2. XR_001754298.2 RNA Sequence

Support Center