dbt dihydrolipoamide branched chain transacylase E2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dbtprovided by ZNC
Official Full Name: dihydrolipoamide branched chain transacylase E2provided by ZNC
Primary source: ZFIN:ZDB-GENE-050320-85
See related: Ensembl:ENSDARG00000101561 AllianceGenome:ZFIN:ZDB-GENE-050320-85
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: im:7147214; zgc:103768
Summary: Predicted to enable acetyltransferase activity and lipoic acid binding activity. Acts upstream of or within branched-chain amino acid metabolic process. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. Is expressed in brain; gut; intestine; liver; and muscle. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human DBT (dihydrolipoamide branched chain transacylase E2). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 22

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	22	NC_007133.7 (16293164..16305821)
105	previous assembly	GRCz10 (GCF_000002035.5)	22	NC_007133.6 (16266894..16279551)

Chromosome 22 - NC_007133.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

que mutant larvae exhibit a progressive locomotor defect that culminates in unusual nose-to-tail compressions and an inability to swim. Peripheral nerve recordings demonstrate abnormal locomotor output to the axial muscles used for swimming.
Title: Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease.

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General gene information

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Markers

fk27e04.y1 (e-PCR)
- UniSTS:200733

fd28f07.y1 (e-PCR)
- UniSTS:195397

fj78e06.x1 (e-PCR)
- UniSTS:199898

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acyltransferase activity, transferring groups other than amino-acyl groups	IEA Inferred from Electronic Annotation more info
enables lipoic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within branched-chain amino acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Names: que

NP_001013533.1

EC 2.3.1.168

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001013515.1 → NP_001013533.1 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

See identical proteins and their annotated locations for NP_001013533.1

Status: PROVISIONAL

Source sequence(s)

BC090917

UniProtKB/TrEMBL

Q5BKV3

Related

ENSDARP00000137558.1, ENSDART00000170960.2

Conserved Domains (4) summary

cd06849
Location:64 → 137

lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...

PLN02528
Location:66 → 493

PLN02528; 2-oxoisovalerate dehydrogenase E2 component

pfam00198
Location:278 → 490

2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)

pfam02817
Location:174 → 206

E3_binding; e3 binding domain