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SUCLG1 Gene

protein-coding   GIFtS: 65
GCID: GC02M084562

Succinate-CoA Ligase, Alpha Subunit

(Previous names: succinate-CoA ligase, GDP-forming, alpha subunit)
  See related diseases
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
Succinate-CoA Ligase, Alpha Subunit1 2     Succinate-CoA Ligase, GDP-Forming, Alpha Subunit1
Succinyl-CoA Synthetase Subunit Alpha2 3     GALPHA2
SCS-alpha2 3     Succinyl-CoA Ligase [ADP/GDP-Forming] Subunit Alpha, Mitochondrial2
EC 6.2.1.43 8     Succinyl-CoA Ligase [GDP-Forming] Subunit Alpha, Mitochondrial2
MTDPS92 5     EC 6.2.1.53
SUCLA12 5     EC 6.2.18

External Ids:    HGNC: 114491   Entrez Gene: 88022   Ensembl: ENSG000001635417   OMIM: 6112245   UniProtKB: P535973   

Export aliases for SUCLG1 gene to outside databases

Previous GC identifers: GC02M084632 GC02M084944 GC02M084625


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SUCLG1 Gene:
This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is
targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or
GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and
mitochondrial DNA depletion. (provided by RefSeq, Feb 2010)

GeneCards Summary for SUCLG1 Gene:
SUCLG1 (succinate-CoA ligase, alpha subunit) is a protein-coding gene. Diseases associated with SUCLG1 include suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria, and mitochondrial dna depletion syndrome 9. GO annotations related to this gene include GDP binding and protein heterodimerization activity. An important paralog of this gene is ACLY.

UniProtKB/Swiss-Prot: SUCA_HUMAN, P53597
Function: Catalyzes the ATP- or GTP-dependent ligation of succinate and CoA to form succinyl-CoA. The nature of
the beta subunit determines the nucleotide specificity (By similarity)

Gene Wiki entry for SUCLG1 Gene


(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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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SUCLG1 gene promoter:
         AML1a   Pbx1a   Bach2   Olf-1   N-Myc   MEF-2A   E2F-1   E2F   HSF2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUCLG1 promoter sequence
   Search Chromatin IP Primers for SUCLG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SUCLG1


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

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.3

SUCLG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUCLG1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M084562:  view genomic region     (about GC identifiers)

Start:
84,650,647 bp from pter      End:
84,687,169 bp from pter
Size:
36,523 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SUCA_HUMAN, P53597 (See protein sequence)
Recommended Name: Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial precursor  
Size: 346 amino acids; 36250 Da
Subunit: Heterodimer of an alpha and a beta subunit
Sequence caution: Sequence=AAD17940.2; Type=Erroneous initiation; Sequence=AAH00504.1; Type=Erroneous initiation;
Sequence=CAA92426.1; Type=Erroneous initiation;
Secondary accessions: Q9BWB0 Q9UNP6

Explore the universe of human proteins at neXtProt for SUCLG1: NX_P53597

Explore proteomics data for SUCLG1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys66, Lys280
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SUCLG1 (P53597) (see all 18)
     ASVIYVP  ICQGFTG  IGPNCPG  VGIGGDP 


    See SUCLG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003840.2  
    ENSEMBL proteins: 
     ENSP00000377446   ENSP00000403884  
    Reactome Protein details: P53597

    SUCLG1 Human Recombinant Protein Products:

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    Novus Biologicals SUCLG1 Proteins
    Novus Biologicals SUCLG1 Lysate
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    Cloud-Clone Corp. Proteins for SUCLG1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR005810 CoA_lig_alpha
     IPR005811 CoA_ligase
     IPR016040 NAD(P)-bd_dom
     IPR017440 Cit_synth/succinyl-CoA_lig_AS
     IPR003781 CoA-bd

    Graphical View of Domain Structure for InterPro Entry P53597

    ProtoNet protein and cluster: P53597

    1 Blocks protein domain: IPB003781 CoA Binding Domain

    UniProtKB/Swiss-Prot: SUCA_HUMAN, P53597
    Similarity: Belongs to the succinate/malate CoA ligase alpha subunit family


    SUCLG1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUCA_HUMAN, P53597
    Function: Catalyzes the ATP- or GTP-dependent ligation of succinate and CoA to form succinyl-CoA. The nature of
    the beta subunit determines the nucleotide specificity (By similarity)
    Catalytic activity: GTP + succinate + CoA = GDP + phosphate + succinyl-CoA
    Catalytic activity: ATP + succinate + CoA = ADP + phosphate + succinyl-CoA

         Enzyme Numbers (IUBMB): EC 6.2.1.41 2 EC 6.2.12 EC 6.2.1.51

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003878ATP citrate synthase activity IEA--
    GO:0004775succinate-CoA ligase (ADP-forming) activity IEA--
    GO:0004776succinate-CoA ligase (GDP-forming) activity IEA--
    GO:0005525GTP binding IEA--
         
    SUCLG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Suclg1 (no phenotypes)

    SUCLG1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SUCLG1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SUCLG1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SUCLG1

    miRNA
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    miRTarBase miRNAs that target SUCLG1:
    hsa-mir-339-5p (MIRT042752), hsa-mir-92a-3p (MIRT049513), hsa-mir-423-3p (MIRT042588)

    Block miRNA regulation of human, mouse, rat SUCLG1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate SUCLG1:
    hsa-miR-593 hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSUCLG1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SUCLG1
    Predesigned siRNA for gene silencing in human, mouse, rat SUCLG1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SUCLG1 (NM_003849)
    Sino Biological Human cDNA Clone for SUCLG1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUCLG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUCLG1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUCLG1


    (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
    SUCA_HUMAN, P53597: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane4
    cytosol3
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion TAS9128182
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005886plasma membrane ----

    SUCLG1 for ontologies           About GeneDecksing


    (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 SUCLG1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    Citrate cycle (TCA cycle)0.55
    TCA Cycle0.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    TCA cycle0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    4Carbon metabolism
    Carbon metabolism0.38
    5Valine, leucine and isoleucine degradation
    Propanoate metabolism0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SUCLG1
        Glucose / Energy Metabolism

    3 BioSystems Pathways for SUCLG1
        TCA Cycle
    TCA cycle
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    1 Reactome Pathway for SUCLG1
        Citric acid cycle (TCA cycle)

    1 PharmGKB Pathway for SUCLG1
        Valproic Acid Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for SUCLG1):
        Citrate cycle (TCA cycle)
    Propanoate metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: SUCA_HUMAN, P53597
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle


    SUCLG1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SUCLG1: 

              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SUCLG1

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

    Selected Interacting proteins for SUCLG1 (P535972, 3 ENSP000003774464) via UniProtKB, MINT, STRING, and/or I2D (see all 112)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUCLA2Q9P2R73, ENSP000003679234I2D: score=7 STRING: ENSP00000367923
    MYCP011063, ENSP000003672074I2D: score=4 STRING: ENSP00000367207
    DLSTP369573, ENSP000003353044I2D: score=1 STRING: ENSP00000335304
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    SDHBP219123, ENSP000003646494I2D: score=1 STRING: ENSP00000364649
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006104succinyl-CoA metabolic process IEA--
    GO:0006105succinate metabolic process IEA--
    GO:0008152metabolic process ----
    GO:0044237cellular metabolic process TAS--

    SUCLG1 for ontologies           About GeneDecksing



    (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 SUCLG1 (SUCA)

    10 HMDB Compounds for SUCLG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    IDP5'-IDP (see all 10)86-04-4--
    Inosine triphosphateinosine 5'-(tetrahydrogen triphosphate) (see all 13)132-06-9--
    Itaconic acid2-Hydroxy-3-Naphthoyl-2-Naphthylamine (see all 12)97-65-4--
    Itaconyl-CoAS-(1-hydrogen methylenesuccinate) Coenzyme A (see all 8)6008-93-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
    Succinyl-CoACoenzyme A S-(hydrogen succinate) (see all 24)604-98-8--

    1 DrugBank Compound for SUCLG1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17668387



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SUCLG1 gene: 
    NM_003849.3  

    Unigene Cluster for SUCLG1:

    Succinate-CoA ligase, alpha subunit
    Hs.270428  [show with all ESTs]
    Unigene Representative Sequence: NM_003849
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393868(uc002son.3 uc010ysk.1) ENST00000484365 ENST00000491123
    ENST00000487809 ENST00000488234 ENST00000483605 ENST00000442240 ENST00000491642
    ENST00000430989
    miRNA
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    hsa-miR-593 hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSUCLG1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SUCLG1 (NM_003849)
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      QuantiTect SYBR Green Assays in human, mouse, rat SUCLG1
      QuantiFast Probe-based Assays in human, mouse, rat SUCLG1

    Additional mRNA sequence: 

    AF104921.2 AK024767.1 AK225737.1 AK291082.1 AK296741.1 AK313290.1 BC000504.2 CR457139.1 
    Z68204.1 

    16 DOTS entries:

    DT.217884  DT.217885  DT.95208285  DT.75115187  DT.100651144  DT.100728043  DT.120970846  DT.40107104 
    DT.97847652  DT.99943233  DT.120970832  DT.91806966  DT.92451611  DT.97847653  DT.100882973  DT.97782599 

    Selected AceView cDNA sequences (see all 482):

    CB141914 BM924619 CB109025 BM916450 BF793333 BF437124 BM793469 BQ083754 
    BX444375 CB141397 BU178493 BX115483 BG576051 CR622153 CR598959 CD251642 
    AI392779 CR603992 BQ937900 AW945175 CB140706 BU189412 BU663578 BC000504 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SUCLG1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11
    SP1:                          -                 -                             -           -                       -         
    SP2:                                            -                                                                           
    SP3:                                                                          -           -                                 
    SP4:                          -                                                                                             
    SP5:        -     -     -     -                                                                                             


    ECgene alternative splicing isoforms for SUCLG1

    (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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    SUCLG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACCCAGCA
    SUCLG1 Expression
    About this image


    SUCLG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Thymus (Hematopoietic System)
             Thymus
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
    SUCLG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SUCLG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.270428
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SUCLG1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SUCLG1
    OriGene qSTAR qPCR primer pairs in human, mouse for SUCLG1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SUCLG1
    QuantiTect SYBR Green Assays in human, mouse, rat SUCLG1
    QuantiFast Probe-based Assays in human, mouse, rat SUCLG1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUCLG1

    (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 eukaryotes.

    Orthologs for SUCLG1 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Suclg11 , 5 succinate-CoA ligase, GDP-forming, alpha subunit1, 5 87.19(n)1
    93.09(a)1
      6 (32.40 cM)5
    564511  NM_019879.31  NP_063932.21 
     732483825 
    chicken
    (Gallus gallus)
    Aves SUCLG11 succinate-CoA ligase, alpha subunit 81.23(n)
    87.08(a)
      422932  NM_001012892.1  NP_001012910.1 
    lizard
    (Anolis carolinensis)
    Reptilia SUCLG16
    succinate-CoA ligase, alpha subunit
    81(a)
    1 ↔ 1
    5(148200997-148216620)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB200855.22   -- 79.91(n)    CB200855.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CA474697.12   -- 79.17(n)    CA474697.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Scsalpha1 , 3 tricarboxylic acid cycle succinate-CoA
    ligase (GDP-forming) less3
    Succinyl coenzyme A synthetase alpha subunit1
    70(a)
    (best of 2)3
    64.73(n)1
    70.32(a)1
      3 63F13
    384471  NM_079181.41  NP_523905.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F23H11.33
    sucl-11
    succinyl-CoA ligase3
    sucl-11
    73(a)
    (best of 2)3
    64.88(n)1
    71.81(a)1
      III(900200-901396)3
    1815701  NM_078049.41  NP_510450.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LSC11 LSC1 61.26(n)
    60.26(a)
      854310   NP_014785.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G083001 AT5G08300 66.44(n)
    71.77(a)
      830726  NM_120913.5  NP_196447.1 
    rice
    (Oryza sativa)
    Liliopsida Os.387992 Rice mRNA for succinyl-CoA sythetase (475 gene), partial sequence less 74.95(n)    D10415.1 


    ENSEMBL Gene Tree for SUCLG1 (if available)
    TreeFam Gene Tree for SUCLG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SUCLG1 gene
    ACLY2  

    SUCLG1 for paralogs           About GeneDecksing



    (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 SUCLG1 (see all 833)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0651574
    Mitochondrial DNA depletion syndrome 9 (MTDPS9)4--see VAR_0651572 G A mis40--------
    VAR_0651214
    Mitochondrial DNA depletion syndrome 9 (MTDPS9)4--see VAR_0651212 P R mis40--------
    VAR_0651204
    Mitochondrial DNA depletion syndrome 9 (MTDPS9)4--see VAR_0651202 M L mis40--------
    rs1162519931,2
    F--84515276(+) TGTCAC/TGTTGA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1115180521,2
    F--84515353(+) CCAGCG/ACGGTG 1 -- ds50012Minor allele frequency- A:0.05CSA WA 120
    rs67555191,2
    C,F,A--84515392(+) GAGGCT/CGAGGC 1 -- ds50018Minor allele frequency- C:0.13NA WA CSA 15
    rs1462512181,2
    --84515497(+) TGTGGC/TGGCAG 1 -- ds50010--------
    rs1168399971,2
    F--84515559(+) ACCCCG/AGGAAG 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs126127071,2
    C,F,H--84515566(+) gaagcG/Agaggt 1 -- ds50012Minor allele frequency- A:0.50NA CSA 6
    rs1414595471,2
    C--84515639(+) AAGAA-/AAAC  
            
    AAACA
    1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SUCLG1 (84650647 - 84687169 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SUCLG1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677941CNV Deletion23128226

    Human Gene Mutation Database (HGMD): SUCLG1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SUCLG1
    DNA2.0 Custom Variant and Variant Library Synthesis for SUCLG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611224   
    OMIM disorders: 245400  
    UniProtKB/Swiss-Prot: SUCA_HUMAN, P53597
  • Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]: A severe disorder due to mitochondrial
    dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor
    retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 13 diseases for SUCLG1:    
    About MalaCards
    suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria    mitochondrial dna depletion syndrome 9    mitochondrial dna depletion syndrome, encephalomyopathic form    fatal infantile lactic acidosis
    lactic acidosis    mitochondrial dna depletion syndrome    pearson syndrome    methylmalonic acidemia
    hypotonia    tuberculosis    multiple myeloma    myeloma
    malaria

    3 diseases from the University of Copenhagen DISEASES database for SUCLG1:
    Methylmalonic acidemia     Lactic acidosis     Pearson syndrome

    SUCLG1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SUCLG1
    Human Genome Epidemiology (HuGE) Navigator: SUCLG1 (1 document)

    Export disorders for SUCLG1 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 SUCLG1 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with SUCLG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. (PubMed id 17668387)1, 2, 7 Ostergaard E.... Wibrand F. (Am. J. Hum. Genet. 2007)
    2. The molecular basis for cross-reaction anti-dystrophin antibody with alpha-actinin. (PubMed id 9128182)1, 2, 3 James M.... Morris G.E. (Biochim. Biophys. Acta 1997)
    3. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. (PubMed id 20693550)1, 2 Rouzier C....Paquis-Flucklinger V. (J. Med. Genet. 2010)
    4. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. (PubMed id 19526370)1, 2 Ostergaard E.... Holme E. (Eur. J. Pediatr. 2010)
    5. 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)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. (PubMed id 20227526)1, 9 Rivera H....Martin M.A. (Mitochondrion 2010)
    8. Genetics of coronary artery calcification among African Americans, a meta-analysis. (PubMed id 23870195)1 Wojczynski M.K....Reilly M.P. (BMC Med. Genet. 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)

    (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: 8802 HGNC: 11449 AceView: SUCLG1 Ensembl:ENSG00000163541 euGenes: HUgn8802
    ECgene: SUCLG1 Kegg: 8802 H-InvDB: SUCLG1

    (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 SUCLG1 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 SUCLG1 gene:
    Search GeneIP for patents involving SUCLG1

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



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