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Aliases for CRLS1 Gene

Aliases for CRLS1 Gene

  • Cardiolipin Synthase 1 2 3 5
  • C20orf155 3 4
  • CLS1 3 4
  • CLS 3 4
  • Chromosome 20 Open Reading Frame 155 2
  • GCD10 Homolog (S. Cerevisiae) 2
  • Protein GCD10 Homolog 4
  • EC 2.7.8.41 4
  • DJ967N21.6 3
  • GCD10 3

External Ids for CRLS1 Gene

Previous HGNC Symbols for CRLS1 Gene

  • C20orf155

Previous GeneCards Identifiers for CRLS1 Gene

  • GC20P005935
  • GC20P005936
  • GC20P005986
  • GC20P005943

Summaries for CRLS1 Gene

Entrez Gene Summary for CRLS1 Gene

  • 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]

GeneCards Summary for CRLS1 Gene

CRLS1 (Cardiolipin Synthase 1) is a Protein Coding gene. Diseases associated with CRLS1 include Catastrophic Antiphospholipid Syndrome. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups and CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity.

UniProtKB/Swiss-Prot for CRLS1 Gene

  • Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRLS1 Gene

Genomics for CRLS1 Gene

Regulatory Elements for CRLS1 Gene

Enhancers for CRLS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CRLS1 on UCSC Golden Path with GeneCards custom track

Promoters for CRLS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CRLS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRLS1 Gene

Chromosome:
20
Start:
6,006,090 bp from pter
End:
6,040,072 bp from pter
Size:
33,983 bases
Orientation:
Plus strand

Genomic View for CRLS1 Gene

Genes around CRLS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRLS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRLS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRLS1 Gene

Proteins for CRLS1 Gene

  • Protein details for CRLS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJA2-CRLS1_HUMAN
    Recommended name:
    Cardiolipin synthase (CMP-forming)
    Protein Accession:
    Q9UJA2
    Secondary Accessions:
    • D3DW09
    • E9PAT4
    • Q27RP0
    • Q69YQ5

    Protein attributes for CRLS1 Gene

    Size:
    301 amino acids
    Molecular mass:
    32593 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CRLS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRLS1 Gene

Proteomics data for CRLS1 Gene at MOPED

Post-translational modifications for CRLS1 Gene

  • Ubiquitination at Lys 225
  • Modification sites at PhosphoSitePlus

Other Protein References for CRLS1 Gene

No data available for DME Specific Peptides for CRLS1 Gene

Domains & Families for CRLS1 Gene

Protein Domains for CRLS1 Gene

Suggested Antigen Peptide Sequences for CRLS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJA2

UniProtKB/Swiss-Prot:

CRLS1_HUMAN :
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
Family:
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
genes like me logo Genes that share domains with CRLS1: view

No data available for Gene Families for CRLS1 Gene

Function for CRLS1 Gene

Molecular function for CRLS1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.2. {ECO:0000269 PubMed:16678169};
UniProtKB/Swiss-Prot CatalyticActivity:
A CDP-diacylglycerol + a phosphatidylglycerol = a cardiolipin + CMP.
UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions.

Enzyme Numbers (IUBMB) for CRLS1 Gene

Phenotypes for CRLS1 Gene

genes like me logo Genes that share phenotypes with CRLS1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CRLS1

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CRLS1 Gene

Localization for CRLS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRLS1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRLS1 Gene COMPARTMENTS Subcellular localization image for CRLS1 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CRLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with CRLS1: view

Pathways & Interactions for CRLS1 Gene

genes like me logo Genes that share pathways with CRLS1: view

Gene Ontology (GO) - Biological Process for CRLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with CRLS1: view

No data available for SIGNOR curated interactions for CRLS1 Gene

Drugs & Compounds for CRLS1 Gene

(2) Drugs for CRLS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Experimental Pharma 205

(95) Additional Compounds for CRLS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:1(11Z))
  • 1'-[1,2-Divaccenoyl-rac-glycero-3-phospho],3'-[1,2-divaccenoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(11Z)/18:1(11Z)],3'-[18:1(11Z)/18:1(11Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:2(9Z,12Z))
  • 1'-[1,2-Divaccenoyl-rac-glycero-3-phospho],3'-[1,2-divaccenoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(11Z)/18:1(11Z)],3'-[18:1(11Z)/18:1(11Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:1(9Z))
  • 1'-[1,2-Dioleoyl-rac-glycero-3-phospho],3'-[1,2-dioleoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(9Z)/18:1(9Z)],3'-[18:1(9Z)/18:1(9Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))
  • 1'-[1,2-Dioleoyl-rac-glycero-3-phospho],3'-[1,2-dioleoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(9Z)/18:1(9Z)],3'-[18:1(9Z)/18:1(9Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:2(9Z,12Z)/18:1(11Z)/18:1(11Z)/16:0)
  • 1'-[1-Linoleoyl-2-vaccenoyl-sn-glycero-3-phospho],3'-[1,2-divaccenoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:2/18:1/18:1/18:1)
  • Cardiolipin(18:2n6/18:1n7/18:1n7/18:1n7)
  • Cardiolipin(18:2w6/18:1w7/18:1w7/18:1w7)
  • Cardiolipin(72:5)
genes like me logo Genes that share compounds with CRLS1: view

Transcripts for CRLS1 Gene

Unigene Clusters for CRLS1 Gene

Cardiolipin synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRLS1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c
SP1: - - - - - - - - - -
SP2: - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - -
SP6:
SP7: - - - - - - - - - - -
SP8: - - - - - -
SP9: - -
SP10: -
SP11: - - - - - -

Relevant External Links for CRLS1 Gene

GeneLoc Exon Structure for
CRLS1
ECgene alternative splicing isoforms for
CRLS1

Expression for CRLS1 Gene

mRNA expression in normal human tissues for CRLS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRLS1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRLS1 Gene



SOURCE GeneReport for Unigene cluster for CRLS1 Gene Hs.743956

mRNA Expression by UniProt/SwissProt for CRLS1 Gene

Q9UJA2-CRLS1_HUMAN
Tissue specificity: Highly expressed in tissues such as heart, skeletal muscle and liver.
genes like me logo Genes that share expression patterns with CRLS1: view

Protein tissue co-expression partners for CRLS1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for CRLS1 Gene

Orthologs for CRLS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CRLS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CRLS1 35
  • 89.33 (n)
  • 88.33 (a)
CRLS1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRLS1 35
  • 90.33 (n)
  • 90 (a)
CRLS1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crls1 35
  • 86.11 (n)
  • 85.67 (a)
Crls1 16
Crls1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRLS1 35
  • 99.56 (n)
  • 100 (a)
CRLS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crls1 35
  • 86.22 (n)
  • 85.67 (a)
oppossum
(Monodelphis domestica)
Mammalia CRLS1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRLS1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRLS1 35
  • 79.9 (n)
  • 84.42 (a)
CRLS1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRLS1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crls1 35
  • 72.97 (n)
  • 81.09 (a)
Str.1917 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.21707 35
zebrafish
(Danio rerio)
Actinopterygii crls1 35
  • 69.15 (n)
  • 76.62 (a)
Dr.18235 35
crls1 36
  • 50 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.666 35
fruit fly
(Drosophila melanogaster)
Insecta CLS 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea crls-1 35
  • 54.88 (n)
  • 48.07 (a)
crls-1 36
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CRD1 36
  • 27 (a)
OneToOne
CRD1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for CRLS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRLS1 Gene

ENSEMBL:
Gene Tree for CRLS1 (if available)
TreeFam:
Gene Tree for CRLS1 (if available)

Paralogs for CRLS1 Gene

No data available for Paralogs for CRLS1 Gene

Variants for CRLS1 Gene

Sequence variations from dbSNP and Humsavar for CRLS1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1013184 -- 6,030,122(+) TCAGG(C/T)TTTTT intron-variant
rs1028410 -- 6,028,528(+) GTTAA(A/G)TTTAC intron-variant
rs1042968 -- 6,009,886(-) AGCAA(A/G)AACTC reference, missense
rs2235816 -- 6,038,065(+) AGGTT(A/G)TTCCA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs2143636 -- 6,021,391(+) ttatg(C/T)tgtta intron-variant

Variation tolerance for CRLS1 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.35% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for CRLS1 Gene

Disorders for CRLS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CRLS1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
catastrophic antiphospholipid syndrome
  • catastrophic antiphospholipid antibody syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CRLS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CRLS1

Genetic Association Database (GAD)
CRLS1
Human Genome Epidemiology (HuGE) Navigator
CRLS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRLS1
genes like me logo Genes that share disorders with CRLS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CRLS1 Gene

Publications for CRLS1 Gene

  1. Cloning and characterization of a cDNA encoding human cardiolipin synthase (hCLS1). (PMID: 16547353) Lu B. … Feingold K.R. (J. Lipid Res. 2006) 2 3 4 23 67
  2. Identification and characterization of human cardiolipin synthase. (PMID: 16678169) Houtkooper R.H. … Vaz F.M. (FEBS Lett. 2006) 3 23
  3. Identification and functional characterization of hCLS1, a human cardiolipin synthase localized in mitochondria. (PMID: 16716149) Chen D. … Shi Y. (Biochem. J. 2006) 3 23
  4. E3 ligase subunit Fbxo15 and PINK1 kinase regulate cardiolipin synthase 1 stability and mitochondrial function in pneumonia. (PMID: 24703837) Chen B.B. … Mallampalli R.K. (Cell Rep 2014) 3
  5. Myocardial regulation of lipidomic flux by cardiolipin synthase: setting the beat for bioenergetic efficiency. (PMID: 22584571) Kiebish M.A. … Gross R.W. (J. Biol. Chem. 2012) 3

Products for CRLS1 Gene

Sources for CRLS1 Gene

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