DBT (dihydrolipoamide branched chain transacylase E2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1629 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Dihydrolipoamide branched chain transacylase E2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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DBT |
SynonymsGene synonyms aliases
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BCATE2, BCKAD-E2, BCKADE2, BCKDH-E2, BCOADC-E2, E2, E2B |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p21.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs12021720 |
T>A,C |
Pathogenic, benign |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs74103423 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs75525811 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs121964999 |
A>C |
Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
rs121965000 |
C>A |
Pathogenic |
Genic downstream transcript variant, terminator codon variant, stop lost |
rs121965001 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant |
rs121965002 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs121965003 |
G>C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs138796800 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Synonymous variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant |
rs185492864 |
G>A,C |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs201559874 |
G>C,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs398123660 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs398123662 |
A>C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs398123663 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, stop lost, terminator codon variant |
rs398123665 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant |
rs398123666 |
ACTG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
rs398123667 |
ATCATAA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
rs398123668 |
T>-,TT |
Pathogenic, likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
rs398123669 |
C>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
rs398123674 |
T>C |
Pathogenic |
Splice acceptor variant |
rs398123675 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs398123676 |
C>G |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs727503895 |
GTAACAAGGTAA>- |
Pathogenic |
Intron variant |
rs748851630 |
CAACTTTG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs754004231 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs767760099 |
C>T |
Uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
rs768832921 |
AT>- |
Pathogenic-likely-pathogenic, pathogenic |
Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
rs770981889 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs775808731 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
rs794727262 |
A>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, upstream transcript variant, non coding transcript variant |
rs794727635 |
C>A |
Pathogenic |
Splice donor variant, intron variant |
rs796052134 |
C>- |
Pathogenic |
Splice donor variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant |
rs796052135 |
T>C |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, intron variant |
rs869312132 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1064795955 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1131691488 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant |
rs1553228653 |
TAGA>- |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, splice acceptor variant |
rs1553229661 |
TG>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
rs1553230841 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs1553231037 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1553232188 |
T>C |
Likely-pathogenic |
Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant |
rs1553232197 |
CTGTATCTCCTTCTTTTACA>- |
Likely-pathogenic |
Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant |
rs1553233152 |
TA>- |
Likely-pathogenic |
Inframe indel, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained |
rs1557943881 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
rs1570806631 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1570816218 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs1570820579 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant |
rs1570836175 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P11182 |
Protein name |
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (EC 2.3.1.168) (52 kDa mitochondrial autoantigen of primary biliary cirrhosis) (Branched chain 2-oxo-acid dehydrogenase complex component E2) (BCOADC-E2) (Branched-chain alpha-keto acid dehydrogenase complex component E2) (BCKAD-E2) (BCKADE2) (Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex) (Dihydrolipoamide branched chain transacylase) (Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase) |
Protein function |
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component. |
PDB |
1K8M
,
1K8O
,
1ZWV
,
2COO
,
3RNM
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00364 |
Biotin_lipoyl |
65 → 138 |
Biotin-requiring enzyme |
Domain |
PF02817 |
E3_binding |
171 → 206 |
e3 binding domain |
Family |
PF00198 |
2-oxoacid_dh |
248 → 479 |
2-oxoacid dehydrogenases acyltransferase (catalytic domain) |
Domain |
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Sequence |
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Sequence length |
482 |
Interactions |
View interactions |
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