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

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 116285
• Gene name: Acyl-CoA synthetase medium chain family member 1
• Gene symbol: ACSM1
• Synonyms (NCBI Gene): BUCS1, MACS1
• Chromosome: 16
• Chromosome location: 16p12.3

miRNA

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

Gene ontology (GO) 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

Other IDs

• MIM: 614357
• HGNC: 18049
• e!Ensembl: 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

Pathways

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

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	17114358	★★☆☆☆ 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	18347602, 20185149	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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	PSYGENET_DG	20185149, 25656805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	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	PSYGENET_DG	25656805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	25656805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

IL24 2 shared diseasesDepression, Lung neoplasms 2 shared evidence sourcesDisgenet (Depression), CTD (Lung neoplasms) Related via 2 shared diseases including Depression, Lung neoplasms — evidence mostly Disgenet. ACSM2B 3 shared pathwaysButanoate metabolism, Conjugation of benzoate with glycine, Conjugation of phenylacetate with glutamine Related via 3 shared pathways including Butanoate metabolism, Conjugation of benzoate with glycine. MAPK14 2 shared diseasesDepression, Lung neoplasms 2 shared evidence sourcesDisgenet (Depression), CTD (Lung neoplasms) Related via 2 shared diseases including Depression, Lung neoplasms — evidence mostly Disgenet. ERBB3 2 shared diseasesDepression, Lung neoplasms 2 shared evidence sourcesDisgenet (Depression), CTD (Lung neoplasms) Related via 2 shared diseases including Depression, Lung neoplasms — evidence mostly Disgenet. SOX9 2 shared diseasesDepression, Lung neoplasms 2 shared evidence sourcesDisgenet (Depression), CTD (Lung neoplasms) Related via 2 shared diseases including Depression, Lung neoplasms — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
IL24	2	["Depression","Lung neoplasms"]	0	[]	2	["Disgenet (Depression)","CTD (Lung neoplasms)"]
ACSM2B	0	[]	3	["Butanoate metabolism","Conjugation of benzoate with glycine","Conjugation of phenylacetate with glutamine"]	0	[]
MAPK14	2	["Depression","Lung neoplasms"]	0	[]	2	["Disgenet (Depression)","CTD (Lung neoplasms)"]
ERBB3	2	["Depression","Lung neoplasms"]	0	[]	2	["Disgenet (Depression)","CTD (Lung neoplasms)"]
SOX9	2	["Depression","Lung neoplasms"]	0	[]	2	["Disgenet (Depression)","CTD (Lung neoplasms)"]

Diseases Linked via Similar Genes

Breast neoplasms Linked via 2 of 5 related genesIL24, ERBB3 Prostatic neoplasms Linked via 2 of 5 related genesIL24, ERBB3 Attention deficit hyperactivity disorder Linked via 2 of 5 related genesMAPK14, ERBB3 Rheumatoid arthritis Linked via 2 of 5 related genesMAPK14, ERBB3 Substance abuse Linked via 2 of 5 related genesMAPK14, ERBB3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast neoplasms	2	["IL24","ERBB3"]
Prostatic neoplasms	2	["IL24","ERBB3"]
Attention deficit hyperactivity disorder	2	["MAPK14","ERBB3"]
Rheumatoid arthritis	2	["MAPK14","ERBB3"]
Substance abuse	2	["MAPK14","ERBB3"]