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.	197322
Gene name Gene Name - the full gene name approved by the HGNC.	Acyl-CoA synthetase family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACSF3
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity

Show/Hide all(25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140986055	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs141090143	C>A,T	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs144681140	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, downstream transcript variant, genic downstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs145583876	G>A	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs150487794	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, intron variant, upstream transcript variant, coding sequence variant
rs201954387	G>A	Pathogenic	5 prime UTR variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs202182978	C>A,T	Likely-pathogenic	Synonymous variant, missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs370382601	A>G	Pathogenic	Initiator codon variant, missense variant, upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs387907118	C>T	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs387907119	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, downstream transcript variant
rs387907120	C>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, intron variant, coding sequence variant, missense variant
rs387907121	T>A,G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant, 5 prime UTR variant
rs570233664	G>A,T	Pathogenic	Non coding transcript variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained
rs748382994	C>G,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, stop gained, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs751342087	->G	Likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs752104014	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs752338222	G>T	Pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant
rs760759040	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs761573352	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant, genic upstream transcript variant, missense variant
rs766764090	C>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, stop gained, genic upstream transcript variant
rs796051924	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1064793662	CA>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, inframe indel, stop gained, 5 prime UTR variant, coding sequence variant
rs1131691498	G>A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, intron variant, upstream transcript variant
rs1188774860	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1597898076	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant

Show/Hide all(110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024911	hsa-miR-215-5p	Microarray	19074876
MIRT026799	hsa-miR-192-5p	Microarray	19074876
MIRT763350	hsa-miR-4277	CLIP-seq
MIRT763351	hsa-miR-526b	CLIP-seq
MIRT763352	hsa-miR-1207-5p	CLIP-seq
MIRT763353	hsa-miR-1273	CLIP-seq
MIRT763354	hsa-miR-1293	CLIP-seq
MIRT763355	hsa-miR-1827	CLIP-seq
MIRT763356	hsa-miR-1915	CLIP-seq
MIRT763357	hsa-miR-192	CLIP-seq
MIRT763358	hsa-miR-203	CLIP-seq
MIRT763359	hsa-miR-215	CLIP-seq
MIRT763360	hsa-miR-2467-3p	CLIP-seq
MIRT763361	hsa-miR-3065-3p	CLIP-seq
MIRT763362	hsa-miR-3148	CLIP-seq
MIRT763363	hsa-miR-3151	CLIP-seq
MIRT763364	hsa-miR-3665	CLIP-seq
MIRT763365	hsa-miR-3675-5p	CLIP-seq
MIRT763366	hsa-miR-3683	CLIP-seq
MIRT763367	hsa-miR-3690	CLIP-seq
MIRT763368	hsa-miR-4254	CLIP-seq
MIRT763369	hsa-miR-4257	CLIP-seq
MIRT763370	hsa-miR-4268	CLIP-seq
MIRT763371	hsa-miR-4316	CLIP-seq
MIRT763372	hsa-miR-4446-3p	CLIP-seq
MIRT763373	hsa-miR-4446-5p	CLIP-seq
MIRT763374	hsa-miR-4447	CLIP-seq
MIRT763375	hsa-miR-4453	CLIP-seq
MIRT763376	hsa-miR-4459	CLIP-seq
MIRT763377	hsa-miR-4472	CLIP-seq
MIRT763378	hsa-miR-4483	CLIP-seq
MIRT763379	hsa-miR-4488	CLIP-seq
MIRT763380	hsa-miR-4492	CLIP-seq
MIRT763381	hsa-miR-4498	CLIP-seq
MIRT763382	hsa-miR-4505	CLIP-seq
MIRT763383	hsa-miR-4514	CLIP-seq
MIRT763384	hsa-miR-4538	CLIP-seq
MIRT763385	hsa-miR-4640-5p	CLIP-seq
MIRT763386	hsa-miR-4645-5p	CLIP-seq
MIRT763387	hsa-miR-4649-5p	CLIP-seq
MIRT763388	hsa-miR-4673	CLIP-seq
MIRT763389	hsa-miR-4692	CLIP-seq
MIRT763390	hsa-miR-4697-5p	CLIP-seq
MIRT763391	hsa-miR-4710	CLIP-seq
MIRT763392	hsa-miR-4726-3p	CLIP-seq
MIRT763393	hsa-miR-4726-5p	CLIP-seq
MIRT763394	hsa-miR-4731-5p	CLIP-seq
MIRT763395	hsa-miR-4733-3p	CLIP-seq
MIRT763396	hsa-miR-4736	CLIP-seq
MIRT763397	hsa-miR-4763-3p	CLIP-seq
MIRT763398	hsa-miR-4779	CLIP-seq
MIRT763399	hsa-miR-486-3p	CLIP-seq
MIRT763400	hsa-miR-513a-3p	CLIP-seq
MIRT763401	hsa-miR-541	CLIP-seq
MIRT763402	hsa-miR-570	CLIP-seq
MIRT763403	hsa-miR-637	CLIP-seq
MIRT763404	hsa-miR-654-5p	CLIP-seq
MIRT763405	hsa-miR-665	CLIP-seq
MIRT763406	hsa-miR-762	CLIP-seq
MIRT763407	hsa-miR-875-3p	CLIP-seq
MIRT763408	hsa-miR-940	CLIP-seq
MIRT1545054	hsa-miR-128	CLIP-seq
MIRT1545055	hsa-miR-4300	CLIP-seq
MIRT1545056	hsa-miR-920	CLIP-seq
MIRT2166345	hsa-miR-2113	CLIP-seq
MIRT2166346	hsa-miR-4265	CLIP-seq
MIRT2166347	hsa-miR-4296	CLIP-seq
MIRT2166348	hsa-miR-4322	CLIP-seq
MIRT2166349	hsa-miR-4648	CLIP-seq
MIRT2166350	hsa-miR-4654	CLIP-seq
MIRT2166351	hsa-miR-4769-5p	CLIP-seq
MIRT2464822	hsa-miR-146b-3p	CLIP-seq
MIRT2464823	hsa-miR-3173-5p	CLIP-seq
MIRT2464824	hsa-miR-3192	CLIP-seq
MIRT2464825	hsa-miR-326	CLIP-seq
MIRT2464826	hsa-miR-330-5p	CLIP-seq
MIRT2464827	hsa-miR-3649	CLIP-seq
MIRT763368	hsa-miR-4254	CLIP-seq
MIRT2464828	hsa-miR-4308	CLIP-seq
MIRT2464829	hsa-miR-4314	CLIP-seq
MIRT2464830	hsa-miR-4646-5p	CLIP-seq
MIRT2464831	hsa-miR-492	CLIP-seq
MIRT2464832	hsa-miR-874	CLIP-seq
MIRT2468889	hsa-miR-1538	CLIP-seq
MIRT2468890	hsa-miR-193a-3p	CLIP-seq
MIRT2468891	hsa-miR-193b	CLIP-seq
MIRT2468892	hsa-miR-3144-5p	CLIP-seq
MIRT2468893	hsa-miR-3160-3p	CLIP-seq
MIRT2468894	hsa-miR-3191	CLIP-seq
MIRT2468895	hsa-miR-4487	CLIP-seq
MIRT763382	hsa-miR-4505	CLIP-seq
MIRT2468896	hsa-miR-4652-5p	CLIP-seq
MIRT2468897	hsa-miR-4667-5p	CLIP-seq
MIRT2468898	hsa-miR-4700-5p	CLIP-seq
MIRT2468899	hsa-miR-4717-3p	CLIP-seq
MIRT763394	hsa-miR-4731-5p	CLIP-seq
MIRT763395	hsa-miR-4733-3p	CLIP-seq
MIRT2468900	hsa-miR-4745-3p	CLIP-seq
MIRT2468901	hsa-miR-4772-3p	CLIP-seq
MIRT2468902	hsa-miR-485-5p	CLIP-seq
MIRT2468903	hsa-miR-558	CLIP-seq
MIRT2468889	hsa-miR-1538	CLIP-seq
MIRT2468890	hsa-miR-193a-3p	CLIP-seq
MIRT2468891	hsa-miR-193b	CLIP-seq
MIRT2468893	hsa-miR-3160-3p	CLIP-seq
MIRT2468895	hsa-miR-4487	CLIP-seq
MIRT763395	hsa-miR-4733-3p	CLIP-seq
MIRT2468900	hsa-miR-4745-3p	CLIP-seq
MIRT2468901	hsa-miR-4772-3p	CLIP-seq
MIRT2468903	hsa-miR-558	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	21846720
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IDA	17762044
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IBA
GO:0006633	Process	Fatty acid biosynthetic process	IDA	21846720
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0016405	Function	CoA-ligase activity	IBA
GO:0016874	Function	Ligase activity	IEA
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IDA	17762044
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	TAS
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	TAS
GO:0090409	Function	Malonyl-CoA synthetase activity	IDA	21642549, 21846720
GO:0090409	Function	Malonyl-CoA synthetase activity	IEA
GO:0090410	Process	Malonate catabolic process	IDA	21642549, 21846720
GO:0090410	Process	Malonate catabolic process	IEA

MIM	HGNC	e!Ensembl
614245	27288	ENSG00000176715

Protein

UniProt ID

Q4G176

Protein name

Malonate--CoA ligase ACSF3, mitochondrial (EC 6.2.1.76) (Acyl-CoA synthetase family member 3)

Protein function

Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21841779, PubMed:21846720). May have some preference toward very-l

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00501	AMP-binding	46 → 480	AMP-binding enzyme	Family
PF13193	AMP-binding_C	488 → 563	AMP-binding enzyme C-terminal domain	Domain

Sequence

MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALV
DQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGG
VAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVE
EPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKL
MEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEI
GMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEE
KEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNV
LAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS

Sequence length

576

Interactions

View interactions

	KEGG		Reactome
	Fatty acid biosynthesis Valine, leucine and isoleucine degradation Metabolic pathways Fatty acid metabolism		Synthesis of very long-chain fatty acyl-CoAs

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
Methylmalonic Aciduria	Methylmalonic acidemia	rs1064793662, rs142575695	N/A

Show/Hide Unknown Diseases (3)

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.
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Melanoma	Melanoma	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cardiovascular Diseases	Associate	31882500
Combined Malonic and Methylmalonic Aciduria	Associate	21841779, 33625768, 37987109
Immunologic Deficiency Syndromes	Inhibit	21841779
Stress Disorders Traumatic Acute	Associate	33625768

ACSF3 (acyl-CoA synthetase family member 3)