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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	197322
Gene name	Acyl-CoA synthetase family member 3
Gene symbol	ACSF3
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16q24.3
Summary	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

110

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

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

1012

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACSF3-related disorder	Likely pathogenic; Pathogenic	rs138156311, rs141090143	RCV003399204 RCV003407360
Combined malonic and methylmalonic acidemia	Likely pathogenic; Pathogenic	rs1912700120, rs1025201214, rs756599931, rs150487794, rs916461556, rs745684193, rs1776373606, rs138156311, rs771558691, rs1567685802, rs1975494455, rs2151416957, rs750594210, rs2151444797, rs775794698 View all (134 more)	RCV001330531 RCV001330534 RCV001378316 RCV001378855 RCV001377030 RCV001387960 RCV001385042 RCV001384669 RCV001384302 RCV001389505 RCV001389079 RCV001383440 RCV001387252 RCV001380093 RCV001390658 RCV001382155 RCV001380278 RCV001382481 RCV001381409 RCV001826392 RCV001783134 RCV001785878 RCV002039124 RCV001902891 RCV001929531 RCV001941649 RCV001877362 RCV001970116 RCV001972657 RCV002007382 RCV002007207 RCV001932674 RCV002015363 RCV001939030 RCV001953501 RCV001898971 RCV001958998 RCV002043777 RCV002266181 RCV005008501 RCV002308699 RCV003086280 RCV003090313 RCV002580689 RCV002609209 RCV001380117 RCV001827991 RCV002658411 RCV002800372 RCV002770389 RCV002774978 RCV002825299 RCV002791548 RCV002806919 RCV002828317 RCV002839225 RCV002876401 RCV002862801 RCV002875830 RCV002858549 RCV002966620 RCV003017872 RCV003042309 RCV003017438 RCV003049618 RCV003027386 RCV003024886 RCV003047875 RCV003230858 RCV003315470 RCV003460333 RCV003460358 RCV003460360 RCV003460364 RCV003460366 RCV003460368 RCV003460369 RCV003460375 RCV003460384 RCV003474482 RCV003474488 RCV003474491 RCV003474500 RCV003474512 RCV003474520 RCV003474528 RCV003474540 RCV003475613 RCV003475623 RCV003475625 RCV003475629 RCV003475631 RCV003475639 RCV003475641 RCV003475644 RCV003475649 RCV003460385 RCV003466676 RCV003466683 RCV003466688 RCV003466695 RCV003466704 RCV003528847 RCV003527941 RCV003527903 RCV003527960 RCV003643745 RCV003643851 RCV003643819 RCV003644048 RCV003644208 RCV003644329 RCV003644417 RCV003642471 RCV003642597 RCV003642740 RCV003643412 RCV003872517 RCV004575451 RCV004575452 RCV004575453 RCV004575457 RCV004575475 RCV004575482 RCV004575487 RCV004575491 RCV004575493 RCV001062791 RCV000024130 RCV000024131 RCV000024137 RCV001383441 RCV001835826 RCV003476188 RCV000690332 RCV001048461 RCV000814483 RCV000796173 RCV000809509 RCV000795961 RCV000801009 RCV000792573 RCV001061070 RCV001044905 RCV001041671 RCV001055927 RCV001047795 RCV001046509 RCV001057166 RCV001042177 RCV001039227 RCV001211942 RCV001204919 RCV001213816 RCV001229626 RCV001232362 RCV001230340 RCV001246335 RCV003460312
Methylmalonic acidemia	Pathogenic; Likely pathogenic	rs1064793662, rs142575695	RCV001274023 RCV001274015
Sarcoma	Likely pathogenic	rs373322510	RCV005928307

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1362504214	-
Acute myeloid leukemia	Benign; Uncertain significance	rs140859425, rs373631805	RCV005890538 RCV005910836
Cervical cancer	Benign	rs140941507	RCV005910593
Cholangiocarcinoma	Benign	rs140859425	RCV005890547
Colorectal cancer	Benign	rs147884845	RCV005867133
Familial cancer of breast	Benign	rs8060043, rs140859425	RCV005911447 RCV005890537
Gastric cancer	Likely benign	rs761564953	RCV005912096
Global developmental delay	Uncertain significance	rs901081235	RCV000449552
Hepatocellular carcinoma	Benign	rs4782456	RCV005911448
Lung cancer	Benign	rs140859425	RCV005890548
Lymphoma	Benign	rs140859425	RCV005890542
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs147884845, rs140859425, rs201022212	RCV005867132 RCV005890540 RCV005913445
Malignant tumor of esophagus	Benign	rs141088268	RCV005898810
Melanoma	Benign	rs140859425	RCV005890546
Nonpapillary renal cell carcinoma	Benign	rs140941507	RCV005910592
Ovarian serous cystadenocarcinoma	Benign	rs140859425	RCV005890543
Thymoma	Benign	rs140859425	RCV005890545
Thyroid cancer, nonmedullary, 1	Benign	rs141088268	RCV005898812
Uterine carcinosarcoma	Benign	rs140859425	RCV005890544
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs140859425, rs141607995	RCV005890549 RCV005899666
Uveal melanoma	Benign	rs140859425	RCV005890539

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)