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CRLS1 Gene

protein-coding   GIFtS: 53
GCID: GC20P005986

Cardiolipin Synthase 1

(Previous name: chromosome 20 open reading frame 155)
(Previous symbol: C20orf155)
  See CRLS1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cardiolipin Synthase 11 2     GCD10 Homolog (S. Cerevisiae)1
C20orf1551 2 3 5     Cardiolipin Synthase2
CLS2 3     dJ967N21.62
CLS12 3     EC 2.7.8.-3
GCD102 5     Protein GCD10 Homolog3
Chromosome 20 Open Reading Frame 1551     

External Ids:    HGNC: 161481   Entrez Gene: 546752   Ensembl: ENSG000000887667   OMIM: 6081885   UniProtKB: Q9UJA23   

Export aliases for CRLS1 gene to outside databases

Previous GC identifers: GC20P005935 GC20P005936 GC20P005943


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CRLS1 Gene:
CRLS1 (cardiolipin synthase 1) is a protein-coding gene. Diseases associated with CRLS1 include catastrophic antiphospholipid syndrome. GO annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups.

UniProtKB/Swiss-Prot: CRLS1_HUMAN, Q9UJA2
Function: Catalyzes the reversible phosphatidyl group transfer from one phosphatidylglycerol molecule to another
to form cardiolipin (CL) (diphosphatidylglycerol) and glycerol




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CRLS1 gene promoter:
         AhR   COMP1   FOXD3   Nkx2-5   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRLS1 promoter sequence
   Search Chromatin IP Primers for CRLS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRLS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13-p12.3   Ensembl cytogenetic band:  20p12.3   HGNC cytogenetic band: 20p13-p12.3

CRLS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRLS1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P005986:  view genomic region     (about GC identifiers)

Start:
5,986,736 bp from pter      End:
6,020,699 bp from pter
Size:
33,964 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CRLS1_HUMAN, Q9UJA2 (See protein sequence)
Recommended Name: Cardiolipin synthase  
Size: 301 amino acids; 32593 Da
Secondary accessions: D3DW09 E9PAT4 Q27RP0 Q69YQ5
Alternative splicing: 2 isoforms:  Q9UJA2-1   Q9UJA2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CRLS1: NX_Q9UJA2

Explore proteomics data for CRLS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys225
  • Modification sites at PhosphoSitePlus

  • See CRLS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120930.1  NP_061968.1  

    ENSEMBL proteins: 
     ENSP00000368140   ENSP00000368145   ENSP00000416770  
    Reactome Protein details: Q9UJA2

    CRLS1 Human Recombinant Protein Products:

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    Novus Biologicals CRLS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CRLS1 

    CRLS1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    CRLS1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CRLS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000462 CDP-OH_P_trans

    Graphical View of Domain Structure for InterPro Entry Q9UJA2

    ProtoNet protein and cluster: Q9UJA2

    1 Blocks protein domain: IPB000462 CDP-alcohol phosphatidyltransferase

    UniProtKB/Swiss-Prot: CRLS1_HUMAN, Q9UJA2
    Similarity: Belongs to the CDP-alcohol phosphatidyltransferase class-I family


    Find genes that share domains with CRLS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRLS1_HUMAN, Q9UJA2
    Function: Catalyzes the reversible phosphatidyl group transfer from one phosphatidylglycerol molecule to another
    to form cardiolipin (CL) (diphosphatidylglycerol) and glycerol
    Catalytic activity: 2 Phosphatidylglycerol = diphosphatidylglycerol + glycerol

         Enzyme Number (IUBMB): EC 2.7.8.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008444CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity ----
    GO:0016780phosphotransferase activity, for other substituted phosphate groups IEA--
         
    Find genes that share ontologies with CRLS1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRLS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CRLS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRLS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRLS1

    miRNA
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    miRTarBase miRNAs that target CRLS1:
    hsa-mir-7-5p (MIRT025804)

    Block miRNA regulation of human, mouse, rat CRLS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CRLS1 (see all 30):
    hsa-miR-21* hsa-miR-3149 hsa-miR-498 hsa-miR-495 hsa-miR-520f hsa-miR-4307 hsa-miR-3660 hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidCRLS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CRLS1

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    Sino Biological Human cDNA Clone for CRLS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRLS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRLS1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRLS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CRLS1_HUMAN, Q9UJA2: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CRLS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CRLS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Acyl chain remodelling of PG0.00
    Phospholipid metabolism0.64
    Synthesis of CL0.00
    Glycerophospholipid metabolism0.62
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with CRLS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for CRLS1
        Synthesis of CL
    Acyl chain remodelling of PG


    2 Kegg Pathways  (Kegg details for CRLS1):
        Glycerophospholipid metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CRLS1
    Interactions:

        Search GeneGlobe Interaction Network for CRLS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CRLS1 (Q9UJA23 ENSP000003681404) via UniProtKB, MINT, STRING, and/or I2D (see all 134)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DARSP148683, ENSP000002641614I2D: score=1 STRING: ENSP00000264161
    ENSG00000258947Q135093I2D: score=1 
    NAPEPLDQ6IQ203, ENSP000003400934I2D: score=1 STRING: ENSP00000340093
    NARS2Q96I593, ENSP000002810384I2D: score=1 STRING: ENSP00000281038
    PRELID1Q9Y2553, ENSP000003021144I2D: score=1 STRING: ENSP00000302114
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0008654phospholipid biosynthetic process ----
    GO:0032049cardiolipin biosynthetic process TAS--
    GO:0036148phosphatidylglycerol acyl-chain remodeling TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with CRLS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRLS1

    Selected HMDB Compounds for CRLS1 (see all 94)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:1(11Z))Cardiolipins(72:4) (see all 14)----
    CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:2(9Z,12Z))Cardiolipins(72:4) (see all 14)----
    CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:1(9Z))Cardiolipin(18:1n9/18:1n9/18:1n9/18:1n9) (see all 14)----
    CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))Cardiolipin(18:1n9/18:1n9/18:1n9/18:1n9) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(11Z)/16:0)Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(11Z)/16:1(9Z))Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(9Z)/16:0)Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(9Z)/16:1(9Z))Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(9Z)/18:1(11Z)/16:0)Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(9Z)/18:1(11Z)/16:1(9Z))Cardiolipins(72:5) (see all 14)----

    2 Novoseek inferred chemical compound relationships for CRLS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylglycerophosphate 93.8 3 8858564 (1), 19001357 (1)
    cardiolipin 87.5 21 16678169 (4), 16547353 (2), 20025994 (2), 16716149 (2) (see all 9)



    Find genes that share compounds with CRLS1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CRLS1 gene (2 alternative transcripts): 
    NM_001127458.1  NM_019095.4  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378863(uc002wmn.4 uc010gbq.3) ENST00000378868(uc010gbs.1 uc010gbr.3)
    ENST00000609154 ENST00000489345 ENST00000464921 ENST00000478846 ENST00000452938

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CRLS1 (see all 30):
    hsa-miR-21* hsa-miR-3149 hsa-miR-498 hsa-miR-495 hsa-miR-520f hsa-miR-4307 hsa-miR-3660 hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidCRLS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CRLS1
    Clone
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    OriGene clones in human, mouse for CRLS1 (see all 12)
    OriGene ORF clones in mouse, rat for CRLS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CRLS1 (NM_001127458)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRLS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRLS1
    Primer
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    OriGene qPCR primer pairs and template standards for CRLS1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRLS1
      QuantiTect SYBR Green Assays in human, mouse, rat CRLS1
      QuantiFast Probe-based Assays in human, mouse, rat CRLS1

    Selected AceView cDNA sequences (see all 311):

    BE348354 CK904797 BM761180 AW058219 BU624399 AW294325 BM693330 AW025718 
    F02824 BF510585 BU521886 AA393313 AA045566 CK904798 T93496 NM_019095 
    AW571928 CR607380 BE219140 CD369486 AA256421 BM843106 AA974906 AL536601 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CRLS1 (see all 11)    About this scheme

    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:                                                        -                             -     -     -                                                   


    ECgene alternative splicing isoforms for CRLS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CRLS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAATATGCA
    CRLS1 Expression
    About this image


    CRLS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)
             Metanephros
     
     Brain (Nervous System)
             Medulla Oblongata
     
     Liver (Hepatobiliary System)
     
     Prostate (Endocrine System)
    CRLS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRLS1 Protein Expression

    UniProtKB/Swiss-Prot: CRLS1_HUMAN, Q9UJA2
    Tissue specificity: Highly expressed in tissues such as heart, skeletal muscle and liver

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    QuantiFast Probe-based Assays in human, mouse, rat CRLS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRLS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CRLS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crls11 , 5 cardiolipin synthase 11, 5 86.11(n)1
    85.67(a)1
      2 (64.77 cM)5
    665861  NM_001024385.11  NP_001019556.11 
     1328466665 
    chicken
    (Gallus gallus)
    Aves CRLS11 cardiolipin synthase 1 79.9(n)
    84.42(a)
      428559  XM_426115.4  XP_426115.4 
    lizard
    (Anolis carolinensis)
    Reptilia CRLS16
    cardiolipin synthase 1
    84(a)
    1 ↔ 1
    1(129353214-129360482)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.217072 Xenopus laevis transcribed sequence with weak similarity more 76.45(n)    BX843479.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.182352 Transcribed sequence with moderate similarity to protein more 71.28(n)    BQ091966.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CLS6
    cardiolipin synthase
    33(a)
    1 ↔ 1
    3R(21510958-21513092)
    worm
    (Caenorhabditis elegans)
    Secernentea crls-11 crls-1 54.88(n)
    48.07(a)
      184910  NM_001027375.2  NP_001022546.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CRD1(YDL142C)4 Cardiolipin synthase; produces cardiolipin, which is more   --   4(202570-201719) 851413  NP_010139.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRLS1 (see all 821)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1121891051,2
    C--5968077(+) TTGTT-/AAAAAA 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1417221711,2
    --5984773(+) GGATGG/TTCTCC 1 -- us2k10--------
    rs786565261,2
    F--5984794(+) TGTTAG/AGGAAA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1139806141,2
    C,F--5984873(+) GCCAGC/GCACTT 1 -- us2k12Minor allele frequency- G:0.08CSA WA 120
    rs718827961,2
    C--5985082(+) TAAAC-/ATTGATA 1 -- us2k10--------
    rs1914276081,2
    --5985359(+) ATAAAA/CCCTAT 1 -- us2k10--------
    rs60769071,2
    C,H--5985365(+) CCTATC/GAGAGC 1 -- us2k110Minor allele frequency- G:0.00NA WA CSA EA 138
    rs64176281,2
    C,F,A,H--5985377(+) ACAAAT/GGGAAA 1 -- us2k1 tfbs3 trp311Minor allele frequency- G:0.28NA WA CSA EA 374
    rs60538241,2
    C,F,A,H--5985393(+) CAAAAA/G/TCAAGT 1 -- us2k112NA WA CSA EA 377
    rs1831940731,2
    --5985399(+) CAAGTC/TTGTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRLS1 (5986736 - 6020699 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CRLS1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CRLS1
    DNA2.0 Custom Variant and Variant Library Synthesis for CRLS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608188    OMIM disorders: --

    1 disease for CRLS1:    
    About MalaCards
    catastrophic antiphospholipid syndrome

    1 disease from the University of Copenhagen DISEASES database for CRLS1:
    Leigh disease

    Find genes that share disorders with CRLS1           About GenesLikeMe

    Genetic Association Database (GAD): CRLS1
    Human Genome Epidemiology (HuGE) Navigator: CRLS1 (1 document)

    Export disorders for CRLS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CRLS1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with CRLS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a cDNA encoding human cardiolipin synthase (hCLS1). (PubMed id 16547353)1, 2, 3, 9 Lu B....Feingold K.R. (J. Lipid Res. 2006)
    2. Identification and characterization of human cardiolipin synthase. (PubMed id 16678169)1, 2, 9 Houtkooper R.H.... Vaz F.M. (FEBS Lett. 2006)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. Identification and functional characterization of hCLS1, a human cardiolipin synthase localized in mitochondria. (PubMed id 16716149)1, 9 Chen D....Shi Y. (Biochem. J. 2006)
    6. Myocardial regulation of lipidomic flux by cardiolipin synthase: setting the beat for bioenergetic efficiency. (PubMed id 22584571)1 Kiebish M.A....Gross R.W. (J. Biol. Chem. 2012)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Cardiolipin synthase-1 mRNA expression does not correlate with endogenous cardiolipin synthase enzyme activity in vitro and in vivo in mammalian lipopolysaccharide models of inflammation. (PubMed id 20652826)1 Lu B....Hatch G.M. (Inflammation 2011)
    9. Infections and the antiphospholipid syndrome. (PubMed id 19089659)1 GarcA-a-Carrasco M....Cervera R. (amp 2009)
    10. Clinical and laboratory features of the catastrophic antiphospholipid syndrome. (PubMed id 19052923)1 Stojanovich L....Milinic N. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54675 HGNC: 16148 AceView: C20orf155 Ensembl:ENSG00000088766 euGenes: HUgn54675
    ECgene: CRLS1 Kegg: 54675 H-InvDB: CRLS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CRLS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CRLS1 gene:
    Search GeneIP for patents involving CRLS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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