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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6296
Gene name	Acyl-CoA synthetase medium chain family member 3
Gene symbol	ACSM3
Synonyms (NCBI Gene)	SASAH
Chromosome	16
Chromosome location	16p12.3

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments
MIRT763681	hsa-miR-23a	CLIP-seq
MIRT763682	hsa-miR-23b	CLIP-seq
MIRT763683	hsa-miR-23c	CLIP-seq
MIRT763684	hsa-miR-2681	CLIP-seq
MIRT763685	hsa-miR-3163	CLIP-seq
MIRT763686	hsa-miR-340	CLIP-seq
MIRT763687	hsa-miR-4263	CLIP-seq
MIRT763688	hsa-miR-5096	CLIP-seq
MIRT763689	hsa-miR-548a-5p	CLIP-seq
MIRT763690	hsa-miR-548ab	CLIP-seq
MIRT763691	hsa-miR-548ak	CLIP-seq
MIRT763692	hsa-miR-548b-5p	CLIP-seq
MIRT763693	hsa-miR-548c-3p	CLIP-seq
MIRT763694	hsa-miR-548c-5p	CLIP-seq
MIRT763695	hsa-miR-548d-5p	CLIP-seq
MIRT763696	hsa-miR-548h	CLIP-seq
MIRT763697	hsa-miR-548i	CLIP-seq
MIRT763698	hsa-miR-548j	CLIP-seq
MIRT763699	hsa-miR-548k	CLIP-seq
MIRT763700	hsa-miR-548l	CLIP-seq
MIRT763701	hsa-miR-548w	CLIP-seq
MIRT763702	hsa-miR-548y	CLIP-seq
MIRT763703	hsa-miR-559	CLIP-seq
MIRT763704	hsa-miR-576-5p	CLIP-seq
MIRT2166533	hsa-miR-494	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004321	Function	Fatty-acyl-CoA synthase activity	IBA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	11772874
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IBA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006637	Process	Acyl-CoA metabolic process	IBA
GO:0008217	Process	Regulation of blood pressure	NAS	7907320
GO:0008217	Process	Regulation of blood pressure	TAS	7907320
GO:0015645	Function	Fatty acid ligase activity	IBA
GO:0015645	Function	Fatty acid ligase activity	IEA
GO:0016405	Function	CoA-ligase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0016878	Function	Acid-thiol ligase activity	IEA
GO:0018729	Function	Propionate CoA-transferase activity	IEA
GO:0031956	Function	Medium-chain fatty acid-CoA ligase activity	IDA	11772874
GO:0031956	Function	Medium-chain fatty acid-CoA ligase activity	IEA
GO:0042632	Process	Cholesterol homeostasis	NAS	15361761
GO:0043759	Function	2-methylbutanoate-CoA ligase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050218	Function	Propionate-CoA ligase activity	IEA

MIM	HGNC	e!Ensembl
145505	10522	ENSG00000005187

Q53FZ2

Protein name

Acyl-coenzyme A synthetase ACSM3, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 3) (Butyrate--CoA ligase 3) (Butyryl-coenzyme A synthetase 3) (Middle-chain acyl-CoA synthetase 3) (Propionate--CoA ligase) (EC 6.2.1.17) (Protein

Protein function

Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:11772874). Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00501	AMP-binding	71 → 484	AMP-binding enzyme	Family
PF13193	AMP-binding_C	492 → 572	AMP-binding enzyme C-terminal domain	Domain

Sequence

MLARVTRKMLRHAKCFQRLAIFGSVRALHKDNRTATPQNFSNYESMKQDFKLGIPEYFNF
AKDVLDQWTDKEKAGKKPSNPAFWWINRNGEEMRWSFEELGSLSRKFANILSEACSLQRG
DRVILILPRVPEWWLANVACLRTGTVLIPGTTQLTQKDILYRLQSSKANCIITNDVLAPA
VDAVASKCENLHSKLIVSENSREGWGNLKELMKHASDSHTCVKTKHNEIMAIFFTSGTSG
YPKMTAHTHSSFGLGLSVNGRFWLDLTPSDVMWNTSDTGWAKSAWSSVFSPWIQGACVFT
HHLPRFEPTSILQTLSKYPITVFCSAPTVYRMLVQNDITSYKFKSLKHCVSAGEPITPDV
TEKWRNKTGLDIYEGYGQTETVLICGNFKGMKIKPGSMGKPSPAFDVKIVDVNGNVLPPG
QEGDIGIQVLPNRPFGLFTHYVDNPSKTASTLRGNFYITGDRGYMDKDGYFWFVARADDV
ILSSGYRIGPFEVENALNEHPSVAESAVVSSPDPIRGEVVKAFVVLNPDYKSHDQEQLIK
EIQEHVKKTTAPYKYPRKVEFIQELPKTISGKTKRNELRKKEWKTI

Sequence length

586

Interactions

View interactions

	KEGG
	Butanoate metabolism Metabolic pathways

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Uterine corpus endometrial carcinoma	Likely benign	rs773261352	RCV005939102

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Abdominal	Associate	31885770
Arthritis Rheumatoid	Associate	19248090, 24850148
Burkitt Lymphoma	Associate	16736499
Carcinoma Hepatocellular	Associate	35196258
Cerebral Infarction	Associate	26352407
Essential Hypertension	Associate	14567496
Fatigue	Associate	11092699
Glomerulonephritis IGA	Associate	12484505
Hypertension	Associate	14567496, 19262474
Hypertrophy Left Ventricular	Associate	25329069
Influenza Human	Associate	35815857
Kidney Diseases	Associate	12484505
Leukemia	Associate	11175813, 12444172
Lymphoma Non Hodgkin	Associate	1311213
Obesity	Associate	19262474
Ovarian Neoplasms	Associate	35031699
Overweight	Associate	14567496
Renal Insufficiency Chronic	Associate	26352407

ACSM3 (acyl-CoA synthetase medium chain family member 3)