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 2... See more...

Aliases for SUCLG1 Gene

Aliases for SUCLG1 Gene

  • Succinate-CoA Ligase GDP/ADP-Forming Subunit Alpha 2 3 5
  • Succinate--CoA Ligase [ADP/GDP-Forming] Subunit Alpha, Mitochondrial 3 4
  • Succinyl-CoA Synthetase Subunit Alpha 3 4
  • EC 6.2.1.4 4 51
  • SCS-Alpha 3 4
  • Succinyl-CoA Ligase [ADP/GDP-Forming] Subunit Alpha, Mitochondrial 3
  • Succinyl-CoA Ligase [GDP-Forming] Subunit Alpha, Mitochondrial 3
  • Succinate-CoA Ligase, GDP-Forming, Alpha Subunit 2
  • Succinate-CoA Ligase, Alpha Subunit 2
  • Succinate-CoA Ligase Alpha Subunit 3
  • EC 6.2.1.5 4
  • EC 6.2.1 51
  • GALPHA 3
  • MTDPS9 3
  • SUCLA1 3
  • SUCLG1 5

External Ids for SUCLG1 Gene

Previous GeneCards Identifiers for SUCLG1 Gene

  • GC02M084632
  • GC02M084944
  • GC02M084625
  • GC02M084562

Summaries for SUCLG1 Gene

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 GDP/ADP-Forming Subunit Alpha) is a Protein Coding gene. Diseases associated with SUCLG1 include Mitochondrial Dna Depletion Syndrome 9 and Mitochondrial Dna Depletion Syndrome. Among its related pathways are Valproic Acid Pathway, Pharmacodynamics and Metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding.

UniProtKB/Swiss-Prot Summary for SUCLG1 Gene

  • Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.

Gene Wiki entry for SUCLG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUCLG1 Gene

Genomics for SUCLG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUCLG1 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
GH02J084456 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.2 +0.3 254 6.6 BRCA1 ARHGAP35 CEBPG CREB1 GATAD2A PRDM10 ZNF629 SIX5 LEF1 IKZF1 DNAH6 SUCLG1 lnc-TRABD2A-8 TCF7L1
GH02J084485 Enhancer 0.9 Ensembl ENCODE 17.3 -26.7 -26746 2.9 GATAD2A RCOR2 SP1 CEBPA SOX13 MAFF ATF3 MAFK TEAD1 JUND SUCLG1 TRABD2A RPS2P17 DNAH6 lnc-SUCLG1-1 piR-39341-193 TMSB10
GH02J084481 Enhancer 0.5 Ensembl 12.3 -22.1 -22055 1.4 TAL1 HDAC2 KDM1A TEAD4 CBFA2T2 CBFA2T3 DNAH6 SUCLG1 TRABD2A RPS2P17 lnc-SUCLG1-1 piR-39341-193 TMSB10
GH02J084493 Enhancer 0.9 Ensembl ENCODE 5.5 -34.6 -34556 3.2 CTCF ZNF7 ZNF143 REST RAD21 TRIM22 CEBPA SP1 JUND JUN TRABD2A SUCLG1 piR-39341-193 lnc-SUCLG1-1 DNAH6 TMSB10
GH02J084740 Enhancer 0.8 Ensembl ENCODE 6 -281.5 -281456 1.4 CTCF LARP7 ZIC2 RAD21 CTBP1 ESRRA SMC3 YY1 ZNF792 STAT1 SUCLG1 TRABD2A DUXAP1 LOC107985906 TMSB10 DNAH6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUCLG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUCLG1

Top Transcription factor binding sites by QIAGEN in the SUCLG1 gene promoter:
  • aMEF-2
  • AML1a
  • Bach2
  • E2F
  • E2F-1
  • HSF2
  • MEF-2A
  • N-Myc
  • Olf-1
  • Pbx1a

Genomic Locations for SUCLG1 Gene

Genomic Locations for SUCLG1 Gene
chr2:84,423,528-84,460,045
(GRCh38/hg38)
Size:
36,518 bases
Orientation:
Minus strand
chr2:84,650,647-84,687,169
(GRCh37/hg19)
Size:
36,523 bases
Orientation:
Minus strand

Genomic View for SUCLG1 Gene

Genes around SUCLG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUCLG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUCLG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUCLG1 Gene

Proteins for SUCLG1 Gene

  • Protein details for SUCLG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53597-SUCA_HUMAN
    Recommended name:
    Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial
    Protein Accession:
    P53597
    Secondary Accessions:
    • Q9BWB0
    • Q9UNP6

    Protein attributes for SUCLG1 Gene

    Size:
    346 amino acids
    Molecular mass:
    36250 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Different beta subunits determine nucleotide specificity. Together with the ATP-specific beta subunit SUCLA2, forms an ADP-forming succinyl-CoA synthetase (A-SCS). Together with the GTP-specific beta subunit SUCLG2 forms a GDP-forming succinyl-CoA synthetase (G-SCS).
    SequenceCaution:
    • Sequence=AAD17940.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH00504.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA92426.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SUCLG1 Gene

neXtProt entry for SUCLG1 Gene

Selected DME Specific Peptides for SUCLG1 Gene

P53597:
  • GPNCPGVI
  • ECKIGIMPG
  • GIVSRSGTLTYEAV
  • SSGLAAARLLSR
  • VCITEGIP
  • IGIVSRSGTLTYEA
  • MGHAGAI
  • QGFTGKQGTFH
  • KPVVSFIAG
  • VSRSGTLTYEAVHQ
  • LPVFNTV
  • ASVIYVP
  • IGPNCPG
  • VGIGGDP
  • ICQGFTG
  • AEENAAEFLK
  • GIGGDPFNGT
  • VSMSPAQLGT

Post-translational modifications for SUCLG1 Gene

  • Ubiquitination at Lys66
  • Modification sites at PhosphoSitePlus

Other Protein References for SUCLG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SUCLG1 Gene

Gene Families for SUCLG1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for SUCLG1 Gene

Suggested Antigen Peptide Sequences for SUCLG1 Gene

GenScript: Design optimal peptide antigens:
  • SUCLG1 protein (Q6IAL5_HUMAN)
  • Succinyl-CoA synthetase subunit alpha (SUCA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53597

UniProtKB/Swiss-Prot:

SUCA_HUMAN :
  • Belongs to the succinate/malate CoA ligase alpha subunit family.
Family:
  • Belongs to the succinate/malate CoA ligase alpha subunit family.
genes like me logo Genes that share domains with SUCLG1: view

Function for SUCLG1 Gene

Molecular function for SUCLG1 Gene

UniProtKB/Swiss-Prot Function:
Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + succinate = ADP + phosphate + succinyl-CoA; Xref=Rhea:RHEA:17661, ChEBI:CHEBI:30031, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292, ChEBI:CHEBI:456216; EC=6.2.1.5; Evidence={ECO:0000255|HAMAP-Rule:MF_03222};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=CoA + GTP + succinate = GDP + phosphate + succinyl-CoA; Xref=Rhea:RHEA:22120, ChEBI:CHEBI:30031, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292, ChEBI:CHEBI:58189; EC=6.2.1.4; Evidence={ECO:0000255|HAMAP-Rule:MF_03222};.

Enzyme Numbers (IUBMB) for SUCLG1 Gene

Phenotypes From GWAS Catalog for SUCLG1 Gene

Gene Ontology (GO) - Molecular Function for SUCLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003824 catalytic activity IEA --
GO:0004550 nucleoside diphosphate kinase activity IBA --
GO:0004774 succinate-CoA ligase activity IEA --
genes like me logo Genes that share ontologies with SUCLG1: view
genes like me logo Genes that share phenotypes with SUCLG1: view

Human Phenotype Ontology for SUCLG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SUCLG1

CRISPR Products

miRNA for SUCLG1 Gene

miRTarBase miRNAs that target SUCLG1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUCLG1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SUCLG1 Gene

Localization for SUCLG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUCLG1 Gene

Mitochondrion.

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 SUCLG1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytosol 5
extracellular 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SUCLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA,IDA --
GO:0005886 plasma membrane IDA --
GO:0009361 succinate-CoA ligase complex (ADP-forming) IBA 21873635
genes like me logo Genes that share ontologies with SUCLG1: view

Pathways & Interactions for SUCLG1 Gene

genes like me logo Genes that share pathways with SUCLG1: view

UniProtKB/Swiss-Prot P53597-SUCA_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.

Gene Ontology (GO) - Biological Process for SUCLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006104 succinyl-CoA metabolic process IBA --
GO:0006105 succinate metabolic process IBA --
GO:0006165 nucleoside diphosphate phosphorylation IEA --
GO:0009142 nucleoside triphosphate biosynthetic process IBA --
genes like me logo Genes that share ontologies with SUCLG1: view

No data available for SIGNOR curated interactions for SUCLG1 Gene

Drugs & Compounds for SUCLG1 Gene

(8) Drugs for SUCLG1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acyclovir Approved Pharma Enzyme, substrate 117
Phosphoric acid Approved Pharma 0
Succinic acid Approved Nutra Agonist, Full agonist 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(6) Additional Compounds for SUCLG1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
IDP
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
132-06-9
Itaconic acid
  • 2-Methylenesuccinic acid
  • 2-Propene-1,2-dicarboxylic acid
  • Methylenebutanedioic acid
  • Methylenesuccinic acid
  • Propylenedicarboxylic acid
97-65-4
Itaconyl-CoA
  • Itaconoyl CoA
  • Itaconoyl coenzyme A
  • S-(1-Hydrogen methylenesuccinate) CoA
  • S-(1-Hydrogen methylenesuccinate) coenzyme A
  • S-3-Methylenesuccinate CoA
6008-93-1
genes like me logo Genes that share compounds with SUCLG1: view

Transcripts for SUCLG1 Gene

mRNA/cDNA for SUCLG1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUCLG1

Alternative Splicing Database (ASD) splice patterns (SP) for SUCLG1 Gene

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: - - - -
SP6: -
SP7: -

Relevant External Links for SUCLG1 Gene

GeneLoc Exon Structure for
SUCLG1

Expression for SUCLG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUCLG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SUCLG1 Gene

This gene is overexpressed in Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for SUCLG1 Gene

This gene is overexpressed in Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUCLG1 Gene



Protein tissue co-expression partners for SUCLG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUCLG1

SOURCE GeneReport for Unigene cluster for SUCLG1 Gene:

Hs.270428

Evidence on tissue expression from TISSUES for SUCLG1 Gene

  • Nervous system(4.8)
  • Lung(4.7)
  • Muscle(4.6)
  • Liver(4.6)
  • Kidney(4.3)
  • Intestine(3.6)
  • Heart(3.6)
  • Skin(3.3)
  • Stomach(3.1)
  • Pancreas(3)
  • Thyroid gland(3)
  • Lymph node(3)
  • Adrenal gland(3)
  • Blood(2.5)
  • Gall bladder(2.5)
  • Spleen(2.5)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SUCLG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SUCLG1: view

No data available for mRNA Expression by UniProt/SwissProt for SUCLG1 Gene

Orthologs for SUCLG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SUCLG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUCLG1 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUCLG1 30 31
  • 91.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUCLG1 30 31
  • 89.22 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Suclg1 30 17 31
  • 87.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Suclg1 30
  • 86.99 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SUCLG1 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUCLG1 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUCLG1 30 31
  • 81.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SUCLG1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia suclg1 30
  • 75.91 (n)
Str.7116 30
Zebrafish
(Danio rerio)
Actinopterygii suclg1 30 31
  • 73.56 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Scsalpha 30 31 32
  • 64.73 (n)
OneToMany
CG6255 31 32
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001312 30
  • 64 (n)
Worm
(Caenorhabditis elegans)
Secernentea F23H11.3 32
  • 73 (a)
C05G5.4 32
  • 71 (a)
sucl-2 31
  • 69 (a)
OneToMany
sucl-1 30 31
  • 64.88 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSC1 30 31
  • 61.26 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03235g 30
  • 59.28 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR134C 30
  • 57.97 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G08300 30
  • 66.44 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7530 30
Barley
(Hordeum vulgare)
Liliopsida Hv.319 30
Rice
(Oryza sativa)
Liliopsida Os.38799 30
Wheat
(Triticum aestivum)
Liliopsida Ta.5528 30
Corn
(Zea mays)
Liliopsida Zm.6083 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 71 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU01227 30
  • 63.16 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC16E8.17c 30
  • 61.48 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2200 30
Species where no ortholog for SUCLG1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SUCLG1 Gene

ENSEMBL:
Gene Tree for SUCLG1 (if available)
TreeFam:
Gene Tree for SUCLG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUCLG1: view image

Paralogs for SUCLG1 Gene

No data available for Paralogs for SUCLG1 Gene

Variants for SUCLG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUCLG1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
669574 Benign: not provided 84,459,633(-) A/G GENIC_UPSTREAM_TRANSCRIPT_VARIANT
673189 Likely Benign: not provided 84,459,805(-) T/G GENIC_UPSTREAM_TRANSCRIPT_VARIANT
684109 Benign: not provided 84,450,016(-) A/G INTRON_VARIANT
684110 Benign: not provided 84,440,740(-) C/T INTRON_VARIANT
684111 Benign: not provided 84,433,116(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SUCLG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SUCLG1 Gene

Variant ID Type Subtype PubMed ID
esv2677941 CNV deletion 23128226
esv3591513 CNV loss 21293372
nsv1002072 CNV gain 25217958

Variation tolerance for SUCLG1 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUCLG1 Gene

Human Gene Mutation Database (HGMD)
SUCLG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUCLG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUCLG1 Gene

Disorders for SUCLG1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for SUCLG1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SUCA_HUMAN
  • 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. {ECO:0000269 PubMed:17668387, ECO:0000269 PubMed:19526370, ECO:0000269 PubMed:20453710, ECO:0000269 PubMed:20693550}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SUCLG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SUCLG1: view

No data available for Genatlas for SUCLG1 Gene

Publications for SUCLG1 Gene

  1. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. (PMID: 17668387) Ostergaard E … Wibrand F (American journal of human genetics 2007) 3 4 26
  2. The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin. (PMID: 9128182) James M … Morris GE (Biochimica et biophysica acta 1997) 2 3 4
  3. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. (PMID: 19526370) Ostergaard E … Holme E (European journal of pediatrics 2010) 3 4
  4. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. (PMID: 20693550) Rouzier C … Paquis-Flucklinger V (Journal of medical genetics 2010) 3 4
  5. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. (PMID: 20227526) Rivera H … Martin MA (Mitochondrion 2010) 3 23

Products for SUCLG1 Gene

Sources for SUCLG1 Gene