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SUCLG1 Gene(Protein Coding)

Succinate-CoA Ligase Alpha Subunit

GCID:
GC02M084423
GIFtS:
53
Genes Participants
UDN Logo

Aliases for SUCLG1 Gene

Aliases for SUCLG1 Gene

  • Succinate-CoA Ligase Alpha Subunit 2 3 5
  • Succinyl-CoA Synthetase Subunit Alpha 3 4
  • EC 6.2.1.4 4 56
  • SCS-Alpha 3 4
  • Succinate--CoA Ligase [ADP/GDP-Forming] Subunit Alpha, Mitochondrial 3
  • 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
  • EC 6.2.1.5 4
  • EC 6.2.1 56
  • GALPHA 3
  • MTDPS9 3
  • SUCLA1 3

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 Alpha Subunit) is a Protein Coding gene. Diseases associated with SUCLG1 include Mitochondrial Dna Depletion Syndrome 9 and Succinate-Coa Ligase Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is ACLY.

UniProtKB/Swiss-Prot 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

Additional gene information for SUCLG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUCLG1 Gene

Genomics for SUCLG1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SUCLG1 Gene

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
GH02I084456 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.3 +0.3 254 6.6 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 DNAH6 SUCLG1 LOC100996506 ELMOD3
GH02I084485 Enhancer 0.7 ENCODE 17.3 -26.7 -26746 2.9 SOX13 FOXA2 SAP130 CEBPG FEZF1 THRB RAD21 TEAD3 HNF4G NR2F6 SUCLG1 TRABD2A RPS2P17 DNAH6 PIR55247 GC02P084502
GH02I084740 Enhancer 0.8 Ensembl ENCODE 6 -281.4 -281400 1.2 CTCF STAT1 ESRRA ZNF792 MNT ZIC2 RAD21 CTBP1 SMC3 SUCLG1 TRABD2A DUXAP1 GC02P084565 DNAH6
GH02I084493 Enhancer 0.5 ENCODE 5.5 -33.7 -33666 1.2 SP1 JUND JUN FOSL2 FOS TRABD2A SUCLG1 GC02P084502 PIR55247 DNAH6
GH02I084701 Enhancer 0.4 ENCODE 6 -242.1 -242066 2.2 CEBPB FOS DNAH6 SUCLG1 DUXAP1 GC02P084565
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SUCLG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SUCLG1 gene promoter:

Genomic Locations for SUCLG1 Gene

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

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 Structure • Gene Density

RefSeq DNA sequence for SUCLG1 Gene

Proteins for SUCLG1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH00504.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA92426.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SUCLG1 Gene

Protein Expression for SUCLG1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 isoforms=66 and posLast=280280

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 secreted proteins

Protein Domains for SUCLG1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SUCLG1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SUCLG1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + succinate + CoA = ADP + phosphate + succinyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + succinate + CoA = GDP + phosphate + succinyl-CoA.
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.

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,IDA 22658674
GO:0003824 catalytic activity IEA --
GO:0004775 succinate-CoA ligase (ADP-forming) activity IEA --
GO:0004776 succinate-CoA ligase (GDP-forming) activity IBA --
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

CRISPR Products

miRNA for SUCLG1 Gene

miRTarBase miRNAs that target SUCLG1

Inhibitory RNA Products

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
extracellular 5
mitochondrion 5
cytosol 5
nucleus 1
endoplasmic reticulum 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 IDA,TAS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix IBA,TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
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:0008152 metabolic process IEA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Phosphoric acid Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
IDP
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
 86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • 5'-ITP
  • 5-ITP
  • Inosine 5
  • Inosine 5'-(tetrahydrogen triphosphate)
 132-06-9
Itaconic acid
  • Methylenebutanedioate
  • 2-Hydroxy-3-Naphthoyl-2-Naphthylamine
  • 2-Methylenesuccinate
  • 2-Methylenesuccinic acid
  • 2-Propene-1,2-dicarboxylate
 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SUCLG1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(482) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SUCLG1 Gene

Succinate-CoA ligase, alpha subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
SUCLG1

Expression for SUCLG1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for SUCLG1 Gene
mRNA expression by BioGPS for SUCLG1 GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for SUCLG1 Gene



Protein tissue co-expression partners for SUCLG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SUCLG1 Gene:

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(4.6)
  • Liver(4.5)
  • Muscle(4.5)
  • Kidney(4)
  • Intestine(3.1)
  • Adrenal gland(2.5)
  • Gall bladder(2.5)
  • Lymph node(2.5)
  • Pancreas(2.5)
  • Stomach(2.5)
  • Thyroid gland(2.5)
  • Skin(2.2)
  • Blood(2)
  • Heart(2)

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
Organs:
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

Primer Products

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 33 34
  • 99.61 (n)
dog
(Canis familiaris)
 Mammalia SUCLG1 33 34
  • 91.54 (n)
cow
(Bos Taurus)
 Mammalia SUCLG1 33 34
  • 89.22 (n)
mouse
(Mus musculus)
 Mammalia Suclg1 33 16 34
  • 87.19 (n)
rat
(Rattus norvegicus)
 Mammalia Suclg1 33
  • 86.99 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SUCLG1 34
  • 86 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SUCLG1 34
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SUCLG1 33 34
  • 81.23 (n)
lizard
(Anolis carolinensis)
 Reptilia SUCLG1 34
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia suclg1 33
  • 75.91 (n)
Str.7116 33
zebrafish
(Danio rerio)
 Actinopterygii suclg1 33 34
  • 73.56 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Scsalpha 35 33 34
  • 64.73 (n)
CG6255 35 34
  • 63 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001312 33
  • 64 (n)
worm
(Caenorhabditis elegans)
 Secernentea F23H11.3 35
  • 73 (a)
C05G5.4 35
  • 71 (a)
sucl-2 34
  • 69 (a)
 OneToMany
sucl-1 33 34
  • 64.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes LSC1 33 34
  • 61.26 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E03235g 33
  • 59.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR134C 33
  • 57.97 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G08300 33
  • 66.44 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7530 33
barley
(Hordeum vulgare)
 Liliopsida Hv.319 33
rice
(Oryza sativa)
 Liliopsida Os.38799 33
wheat
(Triticum aestivum)
 Liliopsida Ta.5528 33
corn
(Zea mays)
 Liliopsida Zm.6083 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 71 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU01227 33
  • 63.16 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC16E8.17c 33
  • 61.48 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2200 33
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)

Paralogs for SUCLG1 Gene

Paralogs for SUCLG1 Gene

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

Variants for SUCLG1 Gene

Sequence variations from dbSNP and Humsavar for SUCLG1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs113840224 benign, uncertain-significance, not specified, Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 84,425,529(-) G/A coding_sequence_variant, synonymous_variant
rs116492610 benign, likely-benign, not specified, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria), Mitochondrial DNA depletion syndrome 84,449,640(-) T/C intron_variant
rs12621740 likely-benign, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria), Mitochondrial DNA depletion syndrome 84,459,402(-) G/A 5_prime_UTR_variant
rs140936198 uncertain-significance, Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 84,459,376(-) T/C 5_prime_UTR_variant
rs141973418 benign, uncertain-significance, not specified, Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 84,443,404(-) A/G intron_variant

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

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

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 9
  • mtdps9
succinate-coa ligase deficiency
  • mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria
lactic acidosis
  • acidosis lactic
hemorrhoid
  • hemorrhoidal disease
methylmalonic aciduria, cblb type
  • methylmalonic acidemia, cblb type
- 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
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 25 58
  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 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. 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 22 58
  5. 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 58

Products for SUCLG1 Gene

Sources for SUCLG1 Gene

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