Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8802
Gene name Gene Name - the full gene name approved by the HGNC.	Succinate-CoA ligase GDP/ADP-forming subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SUCLG1
Synonyms (NCBI Gene) Gene synonyms aliases	GALPHA, MTDPS9, SUCLA1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are th

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140626260	A>G	Pathogenic	Coding sequence variant, missense variant
rs143030960	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267607097	C>G	Pathogenic	Coding sequence variant, missense variant
rs267607098	G>A	Pathogenic	Coding sequence variant, stop gained
rs267607099	G>C	Pathogenic	Coding sequence variant, missense variant
rs369610897	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs773748583	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs796052050	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796052051	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052052	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs797046017	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1573369929	AC>TA	Pathogenic	Coding sequence variant, stop gained
rs1573374828	C>A	Pathogenic	Splice donor variant

Show/Hide all(61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049513	hsa-miR-92a-3p	CLASH	23622248
MIRT042752	hsa-miR-339-5p	CLASH	23622248
MIRT042588	hsa-miR-423-3p	CLASH	23622248
MIRT2120531	hsa-miR-145	CLIP-seq
MIRT2120532	hsa-miR-199a-5p	CLIP-seq
MIRT2120533	hsa-miR-199b-5p	CLIP-seq
MIRT2120534	hsa-miR-2052	CLIP-seq
MIRT2120535	hsa-miR-2054	CLIP-seq
MIRT2120536	hsa-miR-2115	CLIP-seq
MIRT2120537	hsa-miR-217	CLIP-seq
MIRT2120538	hsa-miR-2276	CLIP-seq
MIRT2120539	hsa-miR-3607-3p	CLIP-seq
MIRT2120540	hsa-miR-3613-5p	CLIP-seq
MIRT2120541	hsa-miR-3686	CLIP-seq
MIRT2120542	hsa-miR-3920	CLIP-seq
MIRT2120543	hsa-miR-4418	CLIP-seq
MIRT2120544	hsa-miR-4436a	CLIP-seq
MIRT2120545	hsa-miR-4687-3p	CLIP-seq
MIRT2120546	hsa-miR-4696	CLIP-seq
MIRT2120547	hsa-miR-4760-3p	CLIP-seq
MIRT2120548	hsa-miR-509-3-5p	CLIP-seq
MIRT2120549	hsa-miR-509-5p	CLIP-seq
MIRT2120550	hsa-miR-593	CLIP-seq
MIRT2120551	hsa-miR-626	CLIP-seq
MIRT2120552	hsa-miR-647	CLIP-seq
MIRT2120532	hsa-miR-199a-5p	CLIP-seq
MIRT2120533	hsa-miR-199b-5p	CLIP-seq
MIRT2120537	hsa-miR-217	CLIP-seq
MIRT2120538	hsa-miR-2276	CLIP-seq
MIRT2342667	hsa-miR-4269	CLIP-seq
MIRT2120543	hsa-miR-4418	CLIP-seq
MIRT2342668	hsa-miR-4514	CLIP-seq
MIRT2342669	hsa-miR-4692	CLIP-seq
MIRT2120546	hsa-miR-4696	CLIP-seq
MIRT2342670	hsa-miR-4742-5p	CLIP-seq
MIRT2120548	hsa-miR-509-3-5p	CLIP-seq
MIRT2120549	hsa-miR-509-5p	CLIP-seq
MIRT2636466	hsa-miR-3138	CLIP-seq
MIRT2636467	hsa-miR-3618	CLIP-seq
MIRT2636468	hsa-miR-3692	CLIP-seq
MIRT2120542	hsa-miR-3920	CLIP-seq
MIRT2636469	hsa-miR-3929	CLIP-seq
MIRT2636470	hsa-miR-4328	CLIP-seq
MIRT2636471	hsa-miR-4419b	CLIP-seq
MIRT2636472	hsa-miR-4478	CLIP-seq
MIRT2636473	hsa-miR-4666-5p	CLIP-seq
MIRT2636474	hsa-miR-4731-5p	CLIP-seq
MIRT2636475	hsa-miR-640	CLIP-seq
MIRT2636476	hsa-miR-651	CLIP-seq
MIRT2636477	hsa-miR-934	CLIP-seq
MIRT2636466	hsa-miR-3138	CLIP-seq
MIRT2636467	hsa-miR-3618	CLIP-seq
MIRT2636468	hsa-miR-3692	CLIP-seq
MIRT2120542	hsa-miR-3920	CLIP-seq
MIRT2636469	hsa-miR-3929	CLIP-seq
MIRT2636471	hsa-miR-4419b	CLIP-seq
MIRT2636472	hsa-miR-4478	CLIP-seq
MIRT2636473	hsa-miR-4666-5p	CLIP-seq
MIRT2636474	hsa-miR-4731-5p	CLIP-seq
MIRT2636475	hsa-miR-640	CLIP-seq
MIRT2636477	hsa-miR-934	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003824	Function	Catalytic activity	IEA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	IBA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	IEA
GO:0004776	Function	Succinate-CoA ligase (GDP-forming) activity	IBA
GO:0004776	Function	Succinate-CoA ligase (GDP-forming) activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32627745, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	32627745
GO:0005739	Component	Mitochondrion	TAS	9128182
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	32627745
GO:0009361	Component	Succinate-CoA ligase complex (ADP-forming)	IBA
GO:0009361	Component	Succinate-CoA ligase complex (ADP-forming)	NAS	32627745
GO:0016874	Function	Ligase activity	IEA
GO:0045244	Component	Succinate-CoA ligase complex (GDP-forming)	IEA
GO:0045244	Component	Succinate-CoA ligase complex (GDP-forming)	IPI	32627745
GO:1901289	Process	Succinyl-CoA catabolic process	NAS	32627745

MIM	HGNC	e!Ensembl
611224	11449	ENSG00000163541

Protein

UniProt ID

P53597

Protein name

Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (EC 6.2.1.4) (EC 6.2.1.5) (Succinyl-CoA synthetase subunit alpha) (SCS-alpha)

Protein function

Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of

PDB

6G4Q , 6WCV , 7MSR , 7MSS , 7MST , 8Z02 , 8Z03

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02629	CoA_binding	53 → 146	CoA binding domain	Domain
PF00549	Ligase_CoA	199 → 324	CoA-ligase	Domain

Sequence

MTATLAAAADIATMVSGSSGLAAARLLSRSFLLPQNGIRHCSYTASRQHLYVDKNTKIIC
QGFTGKQGTFHSQQALEYGTKLVGGTTPGKGGQTHLGLPVFNTVKEAKEQTGATASVIYV
PPPFAAAAINEAIEAEIPLVVCITEGIPQQDMVRVKHKLLRQEKTRLIGPNCPGVINPGE
CKIGIMPGHIHKKGRIGIVSRSGTLTYEAVHQTTQVGLGQSLCVGIGGDPFNGTDFIDCL
EIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSKPVVSFIAGLTAPPGRRMGHA
GAIIAGGKGGAKEKISALQSAGVVVSMSPAQLGTTIYKEFEKRKML

Sequence length

346

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways Carbon metabolism		Citric acid cycle (TCA cycle)

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mitochondrial DNA Depletion Syndrome	Mitochondrial DNA depletion syndrome 9	rs1308442327, rs1369567672, rs750388794, rs1573369925, rs1573374828, rs267607097, rs1573369929, rs267607099, rs786205871, rs267607098, rs797046017, rs796052053	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Astrocytoma	Astrocytoma	N/A	N/A	GWAS
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acidosis Lactic	Associate	17668387
Alzheimer Disease	Associate	9257698
Aphasia	Associate	28087732
Carcinoma Hepatocellular	Associate	36308411
Cardiomyopathy Hypertrophic	Associate	10843907
Developmental Disabilities	Associate	28087732
Dyskinesia Drug Induced	Associate	33454781
Glioblastoma	Associate	28035070
Glioma	Associate	28035070
Growth Hormone Secreting Pituitary Adenoma	Associate	31578227
Immunologic Deficiency Syndromes	Associate	27484306
Leigh Disease	Associate	36675121
Methylmalonic acidemia	Associate	27484306, 35361390
Mitochondrial Diseases	Associate	20453710
Mitochondrial Encephalomyopathies	Associate	27484306
Neoplasms	Associate	24982418, 31578227, 31949161, 36626984
Night blindness congenital stationary	Associate	10702259
Night Blindness Congenital Stationary Autosomal Dominant 3	Associate	10702259
Ovarian Diseases	Associate	33454781
Ovarian Hyperstimulation Syndrome	Associate	33454781
Parkinson Disease	Associate	36593912
Proximal Myopathy with Focal Depletion of Mitochondria	Associate	35762302
Spondylometaepiphyseal Dysplasia Short Limb Hand Type	Associate	33454781
Succinate Coa Ligase Deficiency	Associate	20453710, 27484306, 35762302
Uveal melanoma	Associate	21828154, 24551032, 25030020, 35352024
Visceral myopathy familial external ophthalmoplegia	Associate	19667227, 35762302

SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha)