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ACSM3 - acyl-CoA synthetase medium chain family member 3 Gene

Also Known as SA; SAH

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6296

About ACSM3

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:20,674,405-20,797,581 (from NCBI)

This gene has 15 transcripts (splice variants), 155 orthologues and 13 paralogues. Broad expression in liver (RPKM 29.1), kidney (RPKM 21.9) and 17 other tissues.

Summary

Enables butyrate-CoA Ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of Ulcerative Colitis. [provided by Alliance of Genome Resources, Apr 2022]

ACSM3 Products (2)

mRNA	Protein	Name
NM_005622.4	NP_005613.2	acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 1
NM_202000.3	NP_973729.1	acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables medium-chain fatty acid-CoA ligase activity	IDA IDA: Inferred from direct assay	11772874	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrion	IDA IDA: Inferred from direct assay	11772874	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACSM3 Protein Structure

AMP-binding

AMP-binding_C

0
100
200
300
400
500
586 a.a.

Protein Preferred Names	Protein Names
acyl-coenzyme A synthetase ACSM3, mitochondrial	SA (rat hypertension-associated) homolog

関連疾患

Diseases	Alias
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	NEDSOA
Colitis
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Spinal Muscular Atrophy, Jerash Type DSMA2 Neuropathy, Distal Hereditary Motor, Jerash Type Hmnj Autosomal Recessive Distal Spinal Muscular Atrophy 2 Neuronopathy, Distal Hereditary Motor, Jerash Type Distal Spinal Muscular Atrophy 2 Dhmnj Hereditary Motor Neuropathy, Jerash Type Motor Neuropathy, Distal, Jerash Type Distal Hereditary Motor Neuropathy, Jerash Type Distal Hereditary Motor Neuropathy Jerash Type Spinal Muscular Atrophy Jerash Type Mndj Autosomal Recessive Distal Spinal Muscular Atrophy Type 2 Distal Spinal Muscular Atrophy, Autosomal Recessive, 2 Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2
Iga Glomerulonephritis	Iga Nephropathy Glomerulonephritis, Iga Berger'S Iga Or Igg Nephropathy Focal Glomerulonephritis Primary Iga Nephropathy Segmental Glomerulonephritis Berger Disease Berger'S Disease Igan Nephritis, Iga Type Nephropathy Iga Glomerulonephritis Focal Iga Nephropathy, Susceptibility To Primary Immunoglobulin A Nephropathy
Iminoglycinuria	Iminoglycinuria, Digenic IG

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS00207	ACSM3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	ACSM3	VGNC	VGNC:69376
Bos taurus	ACSM3	VGNC	VGNC:49960
Canis familiaris	ACSM3	VGNC	VGNC:54007
Mus musculus	ACSM3	MGD	MGI:99538
Rattus norvegicus	ACSM3	RGD	RGD:62086
Felis catus	ACSM3	VGNC	VGNC:59538
Others	ACSM3	NCBI