DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) [Homo sapiens] - Gene

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Summary

Official Symbol: DLSTprovided by HGNC
Official Full Name: dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)provided by HGNC
Primary source: HGNC:2911
See related: Ensembl:ENSG00000119689; HPRD:00520; MIM:126063; Vega:OTTHUMG00000171483
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DLTS
Summary: This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]

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Genomic context

Location :: 14q24.3

Sequence :: Chromosome: 14; NC_000014.8 (75348594..75370450)

See DLST in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

2-oxoglutarate dehydrogenase complex (OGDHC), the key regulatory enzyme of Krebs cycle. [review]
Title: [2-Oxoglutarate dehydrogenase complex and its multipoint control].
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Association between late-onset Alzheimer disease shows strong linkage disequilibrium across the DLST locus.
Title: Substantial linkage disequilibrium across the dihydrolipoyl succinyltransferase gene region without Alzheimer's disease association.
Data show that the dihydrolipoamide succinyltransferase gene is bifunctional, and truncated mRNA transcribed from it contributes to the biogenesis of the mitochondrial respiratory complexes.
Title: Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P36957	O95376	ARIH2	HPRD	PubMed
P36957	Q9H6F5	CCDC86	HPRD	PubMed
P36957	Q8TDM6	DLG5	HPRD	PubMed
P36957	Q13045	FLII	HPRD	PubMed
P36957	P55209	NAP1L1	HPRD	PubMed
P36957	Q92597	NDRG1	HPRD	PubMed
P36957	Q02218	OGDH	HPRD	PubMed
P36957	O96013	PAK4	HPRD	PubMed
P36957	P35080	PFN2	HPRD	PubMed
P36957	Q8N2Y8	RUSC2	HPRD	PubMed
P36957	Q8WVM8	SCFD1	HPRD	PubMed
P36957	P68371	TUBB4B	HPRD	PubMed
P36957	P11172	UMPS	HPRD	PubMed
P36957	Q05516	ZBTB16	HPRD	PubMed
P36957	Q9UKY1	ZHX1	HPRD	PubMed
BioGRID:108087	BioGRID:115694	ARIH2	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:122529	CCDC86	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:114662	DLG5	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:114023	DYRK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108087	BioGRID:108603	FLII	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:110754	NAP1L1	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:115669	NDRG1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108087	BioGRID:111017	OGDH	BioGRID	PubMed	Reconstituted Complex
BioGRID:108087	BioGRID:115586	PAK4	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:111238	PFN2	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:115187	RUSC2	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:116860	SCFD1	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:112373	SIAH2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108087	BioGRID:115656	TUBB4B	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108087	BioGRID:119697	UIMC1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108087	BioGRID:114465	USP13	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108087	BioGRID:113498	ZBTB16	BioGRID	PubMed	Two-hybrid
BioGRID:108087	BioGRID:116406	ZHX1	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
chaperone binding	IEA Inferred from Electronic Annotation more info
dihydrolipoyllysine-residue succinyltransferase activity	IEA Inferred from Electronic Annotation more info
heat shock protein binding	IEA Inferred from Electronic Annotation more info
transferase activity, transferring acyl groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
2-oxoglutarate metabolic process	IEA Inferred from Electronic Annotation more info
NADH metabolic process	IEA Inferred from Electronic Annotation more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
lysine catabolic process	TAS Traceable Author Statement more info
metabolic process	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
tricarboxylic acid cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
microsome	IEA Inferred from Electronic Annotation more info
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
oxoglutarate dehydrogenase complex	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial

Names: dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial; E2K; OGDC-E2

NP_001924.2

EC 2.3.1.61

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_030313.1 RefSeqGene

Range

5001..26857

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001244883.1 → NP_001231812.1 dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK300396, DA995927, DC338747

UniProtKB/TrEMBL

B7Z6J1

Conserved Domains (1) summary

cd06849
Location:71 – 143
Blast Score: 234

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 ...
NM_001933.4 → NP_001924.2 dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).

Source sequence(s)

AA101667, AI087261, AK289414, BM929953, CN422511, CX163292, DC338747

Consensus CDS

CCDS9833.1

UniProtKB/Swiss-Prot

P36957

Related

ENSP00000335304, OTTHUMP00000246155, ENST00000334220, OTTHUMT00000413637

Conserved Domains (3) summary

cd06849
Location:71 – 143
Blast Score: 233

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 ...

PTZ00144
Location:47 – 453
Blast Score: 1280

PTZ00144; dihydrolipoamide succinyltransferase; Provisional

cl02008
Location:238 – 451
Blast Score: 711

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

RNA

NR_033814.1 RNA Sequence

Description

Transcript Variant: This variant (3) lacks an internal exon and uses an alternate acceptor splice site at another exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA101667, AC006530, AK316463, DC338747
NR_045209.1 RNA Sequence

Description

Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA101667, BC000302, BU623022, BX248774, CX163292, DC338747

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

75348594..75370450

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

55516596..55538452

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC006530.4	AAD30181.1
genomic	CH471061.1	EAW81199.1
		EAW81200.1
		EAW81201.1
		EAW81202.1
genomic	D26535.1	BAA05536.1
mRNA	AA101667.1	None
mRNA	AI087261.1	None
mRNA	AK289414.1	BAF82103.1
mRNA	AK299505.1	BAH13054.1
mRNA	AK300396.1	BAH13277.1
mRNA	AK316463.1	BAH14834.1
mRNA	AL538322.3	None
mRNA	AU133381.1	None
mRNA	BC000302.2	AAH00302.1
mRNA	BC001922.1	AAH01922.1
mRNA	BC002735.2	None
mRNA	BM682697.1	None
mRNA	BM928746.1	None
mRNA	BM929953.1	None
mRNA	BU623022.1	None
mRNA	BX248276.1	CAD62604.1
mRNA	BX248764.1	CAD66571.1
mRNA	BX248774.1	CAD66581.1
mRNA	CN422511.1	None
mRNA	CR456727.1	CAG33008.1
mRNA	CX163292.1	None
mRNA	D16373.1	BAA03871.1
mRNA	DA995927.1	None
mRNA	DC338747.1	None
mRNA	L37418.1	AAB59629.1
mRNA	D17297.1	BAA04130.1
other-genetic	HQ448281.1	ADQ32761.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P36957.4	GenPept	UniProtKB/Swiss-Prot:P36957
Q6IBS5	GenPept	UniProtKB/TrEMBL:Q6IBS5
Q6LEQ7	GenPept	UniProtKB/TrEMBL:Q6LEQ7
Q86SW4	GenPept	UniProtKB/TrEMBL:Q86SW4
Q86TQ8	GenPept	UniProtKB/TrEMBL:Q86TQ8
Q86TW7	GenPept	UniProtKB/TrEMBL:Q86TW7