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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	116285
Gene name Gene Name - the full gene name approved by the HGNC.	Acyl-CoA synthetase medium chain family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACSM1
Synonyms (NCBI Gene) Gene synonyms aliases	BUCS1, MACS1
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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

Protein

UniProt ID

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

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.
Insomnia	Insomnia	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	18632593
Carcinoma Intraductal Noninfiltrating	Associate	19393583
Down Syndrome	Associate	33633844
Hereditary Breast and Ovarian Cancer Syndrome	Associate	25389781
Neoplasm Invasiveness	Associate	18632593, 19393583
Neoplasms	Associate	27196083
Poroma	Associate	23945349, 25389781
Schizophrenia	Associate	20185149

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