Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
79783 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Succinyl-CoA:glutarate-CoA transferase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SUGCT |
SynonymsGene synonyms aliases
|
C7orf10, DERP13, GA3, ORF19 |
ChromosomeChromosome number
|
7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7p14.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs137852860 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs137852861 |
C>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0005739 |
Component |
Mitochondrion |
IDA |
23893049 |
GO:0047369 |
Function |
Succinate-hydroxymethylglutarate CoA-transferase activity |
IDA |
23893049 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9HAC7 |
Protein name |
Succinyl-CoA:glutarate CoA-transferase (EC 2.8.3.-) (Dermal papilla-derived protein 13) (Dicarboxyl-CoA:dicarboxylic acid coenzyme A transferase SUGCT) (Succinate--hydroxymethylglutarate CoA-transferase) (EC 2.8.3.13) |
Protein function |
Coenzyme A (CoA) transferase that reversibly catalyzes the transfer of a CoA moiety from a dicarboxyl-CoA to a dicarboxylate in a metabolite recycling process. Displays preference for succinyl-CoA and glutarate-CoA as dicarboxyl-CoA donors and g |
PDB |
9BR6
,
9BR7
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02515 |
CoA_transf_3 |
48 → 415 |
CoA-transferase family III |
Family |
|
Sequence |
|
Sequence length |
445 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Glutaric acidemia |
Glutaric Aciduria III, Glutaric acidemia type 3 |
rs104894677, rs2123572141, rs387907170, rs377656387 |
27604308, 18926513, 23893049 |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
|
Migraine |
Cervical Migraine Syndrome, Migraine Disorders |
rs794727411 |
23793025, 27182965, 23793025, 27322543 |
Pancreatic cancer |
Malignant neoplasm of pancreas |
rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497 |
26098869 |
Prostate cancer |
Prostate carcinoma, Prostate cancer, familial |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29892016 |
Prostate cancer, hereditary |
PROSTATE CANCER, HEREDITARY, 1 |
rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466 |
29892016 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Abdominal migraine |
Abdominal Migraine |
|
23793025 |
Acne |
Acne Vulgaris |
|
30542056 |
Common migraine |
Common Migraine |
|
23793025 |
Confusional migraine |
Acute Confusional Migraine |
|
23793025 |
Hemicrania migraine |
Hemicrania migraine |
|
23793025 |
Pancreatic neoplasm |
Pancreatic Neoplasm |
|
26098869 |
Pancreatic carcinoma |
Pancreatic carcinoma |
|
26098869, 29422604 |
Status migrainosus |
Status Migrainosus |
|
23793025 |
|