Dlst MGI Mouse Gene Detail - MGI:1926170 - dihydrolipoamide S-succinyltransferase

Symbol

Dlst
Name

dihydrolipoamide S-succinyltransferase
Synonyms

1600017E01Rik, 4632413C10Rik, 4930529O08Rik

Feature Type

protein coding gene
IDs

MGI:1926170
NCBI Gene: 78920
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr12:85157597-85180865 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 39.55 cM, cytoband D3
Mapping Data

3 experiments

SNPs within 2kb

89 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926170	protein coding gene	Chr12:85157597-85181619 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019952	protein coding gene	Chr12:85867083-85893064 (+)
A/J	MGP_AJ_G0019909	protein coding gene	Chr12:82614184-82640370 (+)
AKR/J	MGP_AKRJ_G0019885	protein coding gene	Chr12:84838771-84865301 (+)
BALB/cJ	MGP_BALBcJ_G0019889	protein coding gene	Chr12:82947703-82974774 (+)
C3H/HeJ	MGP_C3HHeJ_G0019695	protein coding gene	Chr12:85319106-85343106 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020340	protein coding gene	Chr12:88340968-88366782 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017958	protein coding gene	Chr12:79500068-79522838 (+)
CAST/EiJ	MGP_CASTEiJ_G0019244	protein coding gene	Chr12:80291371-80316752 (+)
CBA/J	MGP_CBAJ_G0019666	protein coding gene	Chr12:91736387-91765740 (+)
DBA/2J	MGP_DBA2J_G0019781	protein coding gene	Chr12:82130104-82153230 (+)
FVB/NJ	MGP_FVBNJ_G0019767	protein coding gene	Chr12:81090619-81114445 (+)
LP/J	MGP_LPJ_G0019853	protein coding gene	Chr12:85744429-85769308 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019806	protein coding gene	Chr12:94611390-94635856 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020374	protein coding gene	Chr12:84449282-84475020 (+)
PWK/PhJ	MGP_PWKPhJ_G0019008	protein coding gene	Chr12:76621147-76644869 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018803	protein coding gene	Chr12:78930440-78957141 (+)
WSB/EiJ	MGP_WSBEiJ_G0019296	protein coding gene	Chr12:85170537-85193454 (+)

Human Ortholog

DLST, dihydrolipoamide S-succinyltransferase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DLST, dihydrolipoamide S-succinyltransferase
Synonyms

DLTS, KGD2, PGL7, PPGL7
Links

HGNC:2911

NCBI Gene ID: 1743

neXtProt AC: NX_P36957

UniProt: P36957
Chr Location

14q24.3; chr14:74881891-74903743 (+) GRCh38

MGI Vertebrate Homology

Dlst stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DLST
Gene Tree

Dlst

Diseases

2 with human DLST associations

				Human Disease	Mouse Models
				Alzheimer's disease IDs Alzheimer's disease DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395
				paraganglioma IDs paraganglioma DOID:0050773 MESH:D010235 NCI:C3308 OMIM:115310 OMIM:168000 OMIM:601650 OMIM:605373 OMIM:614165 OMIM:PS168000 UMLS_CUI:C0030421

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
3 phenotypes from multigenic genotypes
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

4
Targeted

3
Genomic Mutations

1 involving Dlst
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

17 strains or lines available

Mice heterozygous for a gene trap allele exhibit an accelerates amyloid pathology and memory deficit in a transgenic mouse model of amyloid deposition.

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All GO Annotations

34
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

877
Tissues

142
cDNA Data

266
Literature Summary

7

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dlst

ZFIN dlst

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All Sequences

104
RefSeq

4
UniProt

3
CCDS

CCDS26052.1

Ensembl

ENSMUSG00000004789 (Evidence)
NCBI Gene

78920

			Length	Strain/Species	Flank
genomic	78920	NCBI Gene Model \| MGI Sequence Detail	23269	C57BL/6J	± kb
transcript	NM_030225	RefSeq \| MGI Sequence Detail	2767	C57BL/6
polypeptide	Q9D2G2	UniProt \| EBI \| MGI Sequence Detail	454	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000006526 dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial

(term hierarchy)
EC

2.3.1.61
InterPro Domains

IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain

IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site

IPR000089 Biotin/lipoyl attachment

IPR023213 Chloramphenicol acetyltransferase-like domain superfamily

IPR006255 Dihydrolipoamide succinyltransferase

IPR011053 Single hybrid motif

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All nucleic 266

cDNA 266

Microarray probesets 8

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MGI:1921476, MGI:2443879

Summaries

All 56

Developmental Gene Expression 7

Gene Ontology 11

Phenotypes 15
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:288458 Ni M, et al., Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans. Cell Rep. 2019 Apr 30;27(5):1376-1386.e6

TSS for Dlst:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114375	Chr12:85157624-85157640 (+)	35 bp
Tssr114376	Chr12:85157647-85157664 (+)	59 bp
Tssr114377	Chr12:85157935-85157950 (+)	346 bp
Tssr114378	Chr12:85168825-85168849 (+)	11,240 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23