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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
  • Cardiolipin Synthase (CMP-Forming) 3
  • 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. Gene Ontology (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.

Additional gene information for CRLS1 Gene

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

Genomics for CRLS1 Gene

GeneHancer (GH) Regulatory Elements for CRLS1 Gene

Promoters and enhancers for CRLS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I006005 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.0 1024 4.2 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 CRLS1 MCM8-AS1 MCM8 GC20M006230
GH20I006051 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 17.3 +46.9 46948 3.2 CTCF RING1 MXI1 NFIB SIN3A ZIC2 TEAD3 ZNF366 PRDM10 NR2F6 LRRN4 CRLS1 MCM8 GC20M006230
GH20I006033 Enhancer 1 FANTOM5 ENCODE 18 +28.3 28312 1.9 HDAC1 PKNOX1 TCF12 ETV6 CEBPB ZEB2 ELF1 ZNF592 MEF2D ATF4 CRLS1 CHGB MCM8 GC20M006230
GH20I005788 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.7 -217.6 -217589 0.6 ELF3 FOXA2 RB1 ARID4B RAD21 ARID2 ZNF143 THAP11 SMARCA5 ZNF654 RPS18P1 ENSG00000235820 GPCPD1 CRLS1 MCM8 TRMT6 CHGB C20orf196 GC20P005890
GH20I006074 Enhancer 1 Ensembl ENCODE 11.8 +69.4 69438 3 ARID4B THRB RAD21 RARA YY1 THAP11 MIXL1 RXRA MXD4 REST FERMT1 ENSG00000235820 RPS18P1 CRLS1 MCM8 TRMT6 GC20P006069 GC20M006232
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRLS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRLS1 gene promoter:

Genomic Locations for CRLS1 Gene

Genomic Locations for CRLS1 Gene
chr20:6,006,090-6,040,072
(GRCh38/hg38)
Size:
33,983 bases
Orientation:
Plus strand
chr20:5,986,736-6,020,699
(GRCh37/hg19)

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

Post-translational modifications for CRLS1 Gene

  • Ubiquitination at posLast=225225
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CRLS1 Gene

Domains & Families for CRLS1 Gene

Gene Families for CRLS1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

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

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 From GWAS Catalog for CRLS1 Gene

Gene Ontology (GO) - Molecular Function for CRLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity TAS --
GO:0008444 CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity IEA --
GO:0008808 cardiolipin synthase activity IBA --
GO:0016740 transferase activity IEA --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA --
genes like me logo Genes that share ontologies with CRLS1: view
genes like me logo Genes that share phenotypes with CRLS1: view

Animal Models for CRLS1 Gene

MGI Knock Outs for CRLS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CRLS1

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRLS1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CRLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with CRLS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CRLS1 Gene

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:0006629 lipid metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0032049 cardiolipin biosynthetic process TAS --
GO:0036148 phosphatidylglycerol acyl-chain remodeling TAS --
GO:0097068 response to thyroxine 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 Approved, Investigational Pharma 175

(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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CRLS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRLS1 Gene:

CRLS1

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.

Evidence on tissue expression from TISSUES for CRLS1 Gene

  • Lung(2.4)
  • Liver(2.3)
genes like me logo Genes that share expression patterns with CRLS1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CRLS1 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia CRLS1 33 34
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia CRLS1 33 34
  • 89.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CRLS1 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crls1 33
  • 86.22 (n)
mouse
(Mus musculus)
Mammalia Crls1 33 16 34
  • 86.11 (n)
oppossum
(Monodelphis domestica)
Mammalia CRLS1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRLS1 33 34
  • 79.9 (n)
lizard
(Anolis carolinensis)
Reptilia CRLS1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crls1 33
  • 72.97 (n)
Str.1917 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.21707 33
zebrafish
(Danio rerio)
Actinopterygii crls1 33 34
  • 69.15 (n)
Dr.18235 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.666 33
fruit fly
(Drosophila melanogaster)
Insecta CLS 34
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea crls-1 33 34
  • 54.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CRD1 34 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
Species where no ortholog for CRLS1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000006197 -- 6,016,375(+) A/G intron_variant
rs1000019150 -- 6,038,600(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000043352 -- 6,008,764(+) C/T intron_variant
rs1000266968 -- 6,012,922(+) C/G/T intron_variant
rs1000352425 -- 6,033,184(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CRLS1 Gene

Variant ID Type Subtype PubMed ID
esv3575356 CNV gain 25503493

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)

Additional Variant Information for CRLS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRLS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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

Additional Disease Information for CRLS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 KR (Journal of lipid research 2006) 2 3 4 22 58
  2. Identification and characterization of human cardiolipin synthase. (PMID: 16678169) Houtkooper RH … Vaz FM (FEBS letters 2006) 3 4 22 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Identification and functional characterization of hCLS1, a human cardiolipin synthase localized in mitochondria. (PMID: 16716149) Chen D … Shi Y (The Biochemical journal 2006) 3 22 58
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58

Products for CRLS1 Gene

Sources for CRLS1 Gene

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