1. Gene
  2. ACSM3 - acyl-CoA synthetase medium chain family member 3 Gene

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

Homo sapiens

Also known as SA; SAH

Gene ID: 6296 | Gene type: protein coding

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

ACSM3 Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (72 - 481)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (492 - 572)

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  • 586 a.a.
Protein Preferred Names Protein Names

acyl-coenzyme A synthetase ACSM3, mitochondrial

SA (rat hypertension-associated) homolog

Related Diseases

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

Orthologs Information

Species Symbol Source 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