1. Gene
  2. ACSS1 - acyl-CoA synthetase short chain family member 1 Gene

ACSS1 - acyl-CoA synthetase short chain family member 1 Gene

Homo sapiens

Also known as ACAS2L; ACECS1; AceCS2L

Gene ID: 84532 | Gene type: protein coding

About ACSS1

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:25,006,237-25,058,139 (from NCBI)

This gene has 5 transcripts (splice variants), 188 orthologues and 13 paralogues. Broad expression in placenta (RPKM 70.4), duodenum (RPKM 23.0) and 24 other tissues.

Summary

This gene encodes a mitochondrial acetyl-CoA synthetase Enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ACSS1 Products(4)

mRNA Protein Name
NM_001252675.2 NP_001239604.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 2 precursor
NM_001252676.2 NP_001239605.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 3
NM_001252677.2 NP_001239606.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 4 precursor
NM_032501.4 NP_115890.2 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 1 precursor

ACSS1 Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (116 - 556)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (564 - 642)

  • 0
  • 200
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  • 600
  • 689 a.a.
Protein Preferred Names Protein Names

acetyl-coenzyme A synthetase 2-like, mitochondrial

acetate--CoA ligase 2

Recombinant ACSS1 Proteins

Cat. No. Product Name Accession Purity
HY-P71851 ACSS1 Protein, Human (P.pastoris, His) Q9NUB1 (38A-689K) ≥95%

Related Diseases

Diseases Alias
Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy

Foamy Myocardial Transformation Of Infancy

Infantile Histiocytoid Cardiomyopathy

Infantile Xanthomatous Cardiomyopathy

Oncocytic Cardiomyopathy

Cardiomyopathy, Infantile Xanthomatous

Cardiomyopathy, Focal Lipid

Cardiomyopathy, Oncocytic

Focal Lipid Cardiomyopathy

Infantile Cardiomyopathy With Histiocytoid Change

CMIH

Cardiomyopathy Focal Lipid

Cardiomyopathy Infantile Xanthomatous

Cardiomyopathy Oncocytic

Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal

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
Rattus norvegicus ACSS1 RGD RGD:1306246
Macaca mulatta ACSS1 VGNC VGNC:69416
Canis familiaris ACSS1 VGNC VGNC:52863
Bos taurus ACSS1 VGNC VGNC:25570
Mus musculus ACSS1 MGD MGI:1915988
Felis catus ACSS1 VGNC VGNC:82636
Others ACSS1 NCBI