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

Gene

• Entrez ID: 6296
• Gene name: Acyl-CoA synthetase medium chain family member 3
• Gene symbol: ACSM3
• Synonyms (NCBI Gene): SA, SAH
• Chromosome: 16
• Chromosome location: 16p12.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 145505
• HGNC: 10522
• e!Ensembl: ENSG00000005187

Protein

• UniProt ID: 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

Pathways

KEGG:

Butanoate metabolism
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
Phenotype Name	Clinical Significance	Source	Evidence Score
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	BEFREE	29973245		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	31885770	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19248090, 24850148	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31133774		★☆☆☆☆ Found in Text Mining only
Brain Aneurysm	Brain Aneurysm	BEFREE	19122033		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28082263		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30248218		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	16736499	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35196258	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29772479		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28082263		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	26971811		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26352407	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27982555, 28327554, 28502692, 29650786, 30337436, 31171518		★☆☆☆☆ Found in Text Mining only
Cerebral Vasospasm	Cerebral Vasospasm	BEFREE	21976047		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21976047, 24497844, 27955808, 29030048, 29247493, 30937557, 31629144, 31636598		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31672662		★☆☆☆☆ Found in Text Mining only
Cyclical vomiting syndrome (disorder)	Cyclical Vomiting Syndrome	BEFREE	30529453		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31672662		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	19108963		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30529453, 30568071		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	14567496, 15361761		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	14567496	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	12484505	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Coproporphyria	Hereditary Coproporphyria	BEFREE	28373987		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	28964945		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29101862		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	14567496, 19262474	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	14567496, 17070428, 17278971, 18192838, 19262474		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	17278971		★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	25329069	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	28193628		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	1615764, 25676693, 31649161		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30937557, 31049728, 31313138		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	12484505	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30428930		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11175813, 12444172	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28390038, 28401010		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28082263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30248218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28390038		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19208208		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28401010		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29030048		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19108963		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28390038, 31693878		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17278971, 19262474		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19262474	Associate	★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	BEFREE	28006728		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35031699	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28726440		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19208208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	BEFREE	30834980		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	1615764, 24497844, 27128592, 27474439, 27775820, 27955808, 27982555, 29030048, 29093065, 29408347, 29455413, 30002147, 30219029, 30504576, 30566611, 30744667, 30773476, 30952117, 30952121, 30971151, 31313138, 31608819, 7762046		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	31629144		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	31049728		★☆☆☆☆ Found in Text Mining only