SUGCT (succinyl-CoA:glutarate-CoA transferase)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79783
Gene name Gene Name - the full gene name approved by the HGNC.
Succinyl-CoA:glutarate-CoA transferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SUGCT
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf10, DERP13, GA3, ORF19
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary 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,
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
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.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 23893049
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609187 16001 ENSG00000175600
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney. Intermediate expression in liver, skeletal muscle and pancreas. Little to no expression detected in other tissues examined. {ECO:0000269|PubMed:11829489}.
Sequence
Sequence length 445
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acne acne vulgaris N/A N/A GWAS
Asthma Asthma N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Moyamoya Disease Moyamoya disease N/A N/A GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Glutaric Acidemia I Associate 18926513
Leukoencephalopathies Associate 32779420
Melanoma Associate 8151792
Migraine Disorders Associate 26231841
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Associate 18926513, 32779420
Pancreatic Neoplasms Associate 26098869, 27197284
Prostatic Neoplasms Associate 36095024
Thrombosis Associate 28750087
Venous Thromboembolism Associate 28750087