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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SUCLG1 Gene

protein-coding   GIFtS: 61
GCID: GC02M084562

succinate-CoA ligase, alpha subunit

(Previous names: succinate-CoA ligase, GDP-forming, alpha subunit )
 Explore 10 diseases affiliated with
SUCLG1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SUCLG1    

Aliases
for SUCLG1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Succinate-CoA Ligase, Alpha Subunit1 2     Succinate-CoA Ligase, GDP-Forming, Alpha Subunit1
Succinyl-CoA Synthetase Subunit Alpha2 3     GALPHA2
SCS-Alpha1     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


Summaries
for SUCLG1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SUCLG1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences 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 plasmid: SUCLG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SUCLG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SUCLG1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P53597

    • 4/18 DME Specific Peptides for SUCLG1 (P53597) (see all 18)
     ASVIYVP  ICQGFTG  IGPNCPG  VGIGGDP 

    SUCLG1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003840.2  
    ENSEMBL proteins: 
     ENSP00000377446   ENSP00000403884  
    Reactome Protein details: P53597
    Human Recombinant Protein Products: 
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    Uscn Proteins for SUCLG1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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


    SUCLG1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SUCLG1

    Protein Domains /
    Families
    for SUCLG1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SUCLG1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB003781 CoA Binding Domain

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


    Function
    for SUCLG1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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--
    GO:0019003GDP binding IEA--


    SUCLG1 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI phenotypic allele for Suclg1 (no phenotypes)

    SUCLG1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SUCLG1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCA Cycle
    		TCA Cycle1.00
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    		Citrate cycle (TCA cycle)0.65
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3TCA cycle II (eukaryotic)
    		TCA cycle II (eukaryotic)1.00
    		Citric acid cycle (TCA cycle)0.67
    4Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    5Valproic Acid Pathway, Pharmacodynamics
    		Valproic Acid Pathway, Pharmacodynamics1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    2 BioSystems Pathways for SUCLG1 
        TCA Cycle
    TCA cycle II (eukaryotic)

    4        Reactome Pathways for SUCLG1
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport

    1 PharmGKB Pathway for SUCLG1
        Valproic Acid Pathway, Pharmacodynamics

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

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


    SUCLG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SUCLG1

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

    5/107 Interacting proteins for SUCLG1 (P535972, 3 ENSP000003774464) via UniProtKB, MINT, STRING, and/or I2D (see all 107)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUCLA2Q9P2R73, ENSP000003679234I2D: score=7 STRING: ENSP00000367923
    ERCC2P180743, ENSP000003758094I2D: score=4 STRING: ENSP00000375809
    MYCP011063, ENSP000003672074I2D: score=4 STRING: ENSP00000367207
    DLSTP369573, ENSP000003353044I2D: score=1 STRING: ENSP00000335304
    DPH5Q9H2P93, ENSP000003591274I2D: score=1 STRING: ENSP00000359127
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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:0044281small molecule metabolic process TAS--


    SUCLG1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SUCLG1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SUCLG1

    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

    Search CenterWatch for drugs/clinical trials and news about SUCLG1 / SUCA 

    Transcripts
    for SUCLG1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    Clone
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    Additional cDNA 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 

    24/482 AceView cDNA sequences (see all 482):

    BM793469 CB140706 BX115483 CA455112 AA377263 BM767558 BM916450 AA652381 
    BU663578 BU178493 BG576051 BM924619 CR605758 BQ437632 CR611933 CR603992 
    AI392779 CR622153 CB141397 BU857966 BM795380 BI761201 CR598959 AA362008 

    GeneLoc Exon Structure

    5/7 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

    Expression
    for SUCLG1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SUCLG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAACCCAGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SUCLG1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SUCLG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SUCLG1

    SOURCE GeneReport for Unigene cluster: Hs.270428
        SABiosciences Expression via Pathway-Focused PCR Arrays including SUCLG1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    In Situ
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    Orthologs
    for SUCLG1 gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for SUCLG1 gene from 10/43 species (see all 43)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 81(a)
    		 1 ↔ 1
    		 5(148207022-148214513)
    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 more3
    Succinyl coenzyme A synthetase alpha subunit1    		 70(a)
    (best of 2)3
    64.73(n)1
    70.32(a)1    		   3 63F13
    384471  NM_079181.31  NP_523905.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea F23H11.33
    sucl-11    		 succinyl-CoA ligase3
    Protein SUCL-11    		 73(a)
    (best of 2)3
    64.88(n)1
    71.81(a)1    		   III(900200-901396)3
    1815701  NM_078049.31  NP_510450.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes LSC11 Lsc1p 61.26(n)
    60.26(a)    		   854310   NP_014785.3 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G083001 Succinyl-CoA ligase [GDP-forming] subunit alpha-1 66.67(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 more 74.95(n)    D10415.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria sucD6
    		 succinyl-CoA synthetase, NAD(P)-binding, alpha sub...
    		 67(a)
    		 1 ↔ 1
    		 Chromosome(763403-764272)


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

    Paralogs
    for SUCLG1 gene

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

    SUCLG1 for paralogs           About GeneDecksing



    Genomic Variants
    for SUCLG1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/686 NCBI SNPs in SUCLG1 are shown (see all 686)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1115180521,2
    		--84546236(+) CCAGCG/ACGGTG 1 -- ds50012Minor allele frequency- A:0.05CSA WA 120
    rs126127071,2
    		C,F,H,--84546449(+) gaagcG/Agaggt 1 -- ds50012Minor allele frequency- A:0.50NA CSA 6
    rs124729971,2
    		C,H,--84546525(+) gaaaaA/C/Gcaaac 1 -- ds50010--------
    rs739426531,2
    		C,--84546659(+) TCAAAC/TAGTAG 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs801664421,2
    		F,--84546811(+) TGCTGC/GTGGGT 1 -- ut311Minor allele frequency- G:0.08WA 118
    rs67563431,2
    		C,H,--84546815(+) GCTGGA/G/TTTACA 2 -- ut314NS EA 420
    rs121046961,2
    		C,F,H,--84547100(+) TTCACG/AAAACA 1 -- int112Minor allele frequency- A:0.04NS EA NA CSA WA 1486
    rs1129043281,2
    		--84547775(+) CTTAAG/AAGGAG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs728301461,2
    		C,--84549451(+) AAAGTA/GGTTGA 1 -- int12Minor allele frequency- G:0.20NA 122
    rs23649031,2
    		--84549613(+) GAAACC/TCCATC 1 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for SUCLG1 (84650647 - 84687169 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SUCLG1: --
    Human Gene Mutation Database (HGMD): SUCLG1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SUCLG1
    DNA2.0 Custom Variant and Variant Library Synthesis for SUCLG1

    Disorders / Diseases
    for SUCLG1 gene

    (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.)
    About This Section
    SUCLG1 for disorders           About GeneDecksing

    OMIM gene information: 611224   
    OMIM disorders: 245400  
    UniProtKB/Swiss-Prot: SUCA_HUMAN, P53597
  • Defects in SUCLG1 are the cause of mitochondrial DNA depletion syndrome type 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

    10 diseases for SUCLG1:    About MalaCards
    fatal infantile lactic acidosis    lactic acidosis    mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)    mitochondrial dna depletion syndrome
    pearson syndrome    metabolic disorders    hypotonia    tuberculosis
    malaria    mycobacterium tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for SUCLG1:
    Methylmalonic acidemia     Pearson syndrome     Lactic acidosis
    Human Genome Epidemiology (HuGE) Navigator: SUCLG1 (1 document)

    Export disorders for SUCLG1 gene to outside databases

    Publications
    for SUCLG1 gene

    (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)
    About This Section

    PubMed articles for SUCLG1 gene, integrated from 9 sources (see all 27):
    (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. (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. (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. (2010)
    4. A novel missense mutation in SUCLG1 associated with m itochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduri a. (PubMed id 19526370)1, 2 Ostergaard E....Holme E. (2010)
    5. 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. (2004)
    6. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ f ailure, and interrupted aortic arch. (PubMed id 20227526)1, 9 Rivera H....Martin M.A. (2010)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for SUCLG1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SUCLG1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8802 HGNC: 11449 AceView: SUCLG1 Ensembl:ENSG00000163541 euGenes: HUgn8802
    ECgene: SUCLG1 Kegg: 8802 H-InvDB: SUCLG1

    Other Databases showing SUCLG1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SUCLG1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SUCLG1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SUCLG1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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