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	116285
Gene name	Acyl-CoA synthetase medium chain family member 1
Gene symbol	ACSM1
Synonyms (NCBI Gene)	BUCS1MACS1
Chromosome	16
Chromosome location	16p12.3

Show/Hide all (5)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016971	hsa-miR-335-5p	Microarray	18185580
MIRT2443089	hsa-miR-1252	CLIP-seq
MIRT2443090	hsa-miR-2681	CLIP-seq
MIRT2443091	hsa-miR-3673	CLIP-seq
MIRT2443092	hsa-miR-570	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001676	Process	Long-chain fatty acid metabolic process	IEA
GO:0004321	Function	Fatty-acyl-CoA synthase activity	IBA
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IDA	11470804
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	11470804
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
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:0006805	Process	Xenobiotic metabolic process	TAS
GO:0015645	Function	Fatty acid ligase activity	IBA
GO:0015645	Function	Fatty acid ligase activity	IEA
GO:0015980	Process	Energy derivation by oxidation of organic compounds	NAS	11470804
GO:0016405	Function	CoA-ligase activity	IEA
GO:0016405	Function	CoA-ligase activity	TAS
GO:0016874	Function	Ligase activity	IEA
GO:0016878	Function	Acid-thiol ligase activity	IEA
GO:0018858	Function	Benzoate-CoA ligase activity	IDA	10434065
GO:0018858	Function	Benzoate-CoA ligase activity	IEA
GO:0018874	Process	Benzoate metabolic process	NAS	11470804
GO:0019395	Process	Fatty acid oxidation	NAS	11470804
GO:0019605	Process	Butyrate metabolic process	NAS	11470804
GO:0031956	Function	Medium-chain fatty acid-CoA ligase activity	IDA	10434065, 11470804
GO:0031956	Function	Medium-chain fatty acid-CoA ligase activity	IEA
GO:0042632	Process	Cholesterol homeostasis	NAS	15361761
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0102391	Function	Decanoate-CoA ligase activity	IDA	10434065
GO:0102391	Function	Decanoate-CoA ligase activity	IEA

MIM	HGNC	e!Ensembl
614357	18049	ENSG00000166743

Q08AH1

Protein name

Acyl-coenzyme A synthetase ACSM1, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 1) (Benzoate--CoA ligase) (EC 6.2.1.25) (Butyrate--CoA ligase 1) (Butyryl-coenzyme A synthetase 1) (Lipoate-activating enzyme) (Middle-chain acyl-

Protein function

Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00501	AMP-binding	62 → 475	AMP-binding enzyme	Family
PF13193	AMP-binding_C	483 → 563	AMP-binding enzyme C-terminal domain	Domain

Sequence

MQWLMRFRTLWGIHKSFHNIHPAPSQLRCRSLSEFGAPRWNDYEVPEEFNFASYVLDYWA
QKEKEGKRGPNPAFWWVNGQGDEVKWSFREMGDLTRRVANVFTQTCGLQQGDHLALMLPR
VPEWWLVAVGCMRTGIIFIPATILLKAKDILYRLQLSKAKGIVTIDALASEVDSIASQCP
SLKTKLLVSDHSREGWLDFRSLVKSASPEHTCVKSKTLDPMVIFFTSGTTGFPKMAKHSH
GLALQPSFPGSRKLRSLKTSDVSWCLSDSGWIVATIWTLVEPWTAGCTVFIHHLPQFDTK
VIIQTLLKYPINHFWGVSSIYRMILQQDFTSIRFPALEHCYTGGEVVLPKDQEEWKRRTG
LLLYENYGQSETGLICATYWGMKIKPGFMGKATPPYDVQVIDDKGSILPPNTEGNIGIRI
KPVRPVSLFMCYEGDPEKTAKVECGDFYNTGDRGKMDEEGYICFLGRSDDIINASGYRIG
PAEVESALVEHPAVAESAVVGSPDPIRGEVVKAFIVLTPQFLSHDKDQLTKELQQHVKSV
TAPYKYPRKVEFVSELPKTITGKIERKELRKKETGQM

Sequence length

577

Interactions

View interactions

	KEGG		Reactome
	Butanoate metabolism Lipoic acid metabolism Metabolic pathways		Conjugation of benzoate with glycine Conjugation of phenylacetate with glutamine

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	18632593	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23945349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	19393583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30138846, 31403825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33633844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15361761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25389781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17114358		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	25656805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	25656805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17114358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16521160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20185149, 25656805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20185149, 25656805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20185149	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	25656805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	25656805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ACSM1 (acyl-CoA synthetase medium chain family member 1)