dldh dihydrolipoamide dehydrogenase [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dldhprovided by ZNC
Official Full Name: dihydrolipoamide dehydrogenaseprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040120-4
See related: Ensembl:ENSDARG00000008785 AllianceGenome:ZFIN:ZDB-GENE-040120-4
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: fb24b05; wu:fb24b05
Summary: Predicted to enable dihydrolipoyl dehydrogenase activity and flavin adenine dinucleotide binding activity. Acts upstream of or within heart contraction. Predicted to be located in acrosomal vesicle and motile cilium. Predicted to be part of oxoglutarate dehydrogenase complex. Predicted to be active in mitochondrion. Is expressed in several structures, including adaxial cell; digestive system; midbrain; musculature system; and retina. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human DLD (dihydrolipoamide dehydrogenase). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 25

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	25	NC_007136.7 (26877705..26892990, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	25	NC_007136.6 (26434503..26449788, complement)
103	previous assembly	Zv9 (GCF_000002035.4)	25	NC_007136.5 (27744409..27759694, complement)

Chromosome 25 - NC_007136.7 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?

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General gene information

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Markers

fb24b05 (e-PCR)
- UniSTS:188985

fc04g02.y1 (e-PCR)
- UniSTS:192174

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables dihydrolipoyl dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables dihydrolipoyl dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell redox homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in motile cilium	IEA Inferred from Electronic Annotation more info
part_of oxoglutarate dehydrogenase complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: dihydrolipoyl dehydrogenase, mitochondrial

NP_958914.1

EC 1.8.1.4

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_201506.1 → NP_958914.1 dihydrolipoyl dehydrogenase, mitochondrial

See identical proteins and their annotated locations for NP_958914.1

Status: PROVISIONAL

Source sequence(s)

BC044432

UniProtKB/TrEMBL

Q803L1

Related

ENSDARP00000017217.6, ENSDART00000006709.7

Conserved Domains (5) summary

PRK06327
Location:42 → 507

PRK06327; dihydrolipoamide dehydrogenase; Validated

pfam00070
Location:214 → 286

Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase

pfam02852
Location:388 → 494

Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerization domain

cl10013
Location:282 → 376

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

cl21454
Location:44 → 220

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins