CRAT - carnitine O-acetyltransferase Gene

Also Known as CAT; CAT1; NBIA8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1384

About CRAT

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,094,794-129,110,793 (from NCBI)

This gene has 22 transcripts (splice variants), 228 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 76.6), duodenum (RPKM 25.0) and 23 other tissues.

Summary

This gene encodes carnitine O-acetyltransferase, a member of the carnitine Acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]

CRAT Products (7)

mRNA Protein Name
NM_000755.5 NP_000746.3 carnitine O-acetyltransferase isoform 1
NM_001257363.3 NP_001244292.2 carnitine O-acetyltransferase isoform 2
NM_001346546.2 NP_001333475.2 carnitine O-acetyltransferase isoform 3
NM_001346547.2 NP_001333476.2 carnitine O-acetyltransferase isoform 4
NM_001346548.2 NP_001333477.2 carnitine O-acetyltransferase isoform 5
NM_001346549.2 NP_001333478.2 carnitine O-acetyltransferase isoform 6
NM_004003.4 NP_003994.3 carnitine O-acetyltransferase isoform 2
Molecular Function GO Annotation Evidence References Source
enables acyl-CoA oxidase activity IDA
IDA: Inferred from direct assay
23485643 GOA
enables carnitine O-acetyltransferase activity IDA
IDA: Inferred from direct assay
2351134 GOA
Biological Process GO Annotation Evidence References Source
involved in carnitine metabolic process, CoA-linked IDA
IDA: Inferred from direct assay
2351134 GOA
involved in fatty acid beta-oxidation using acyl-CoA oxidase IDA
IDA: Inferred from direct assay
23485643 GOA
involved in medium-chain fatty acid metabolic process IDA
IDA: Inferred from direct assay
23485643 GOA
involved in short-chain fatty acid metabolic process IDA
IDA: Inferred from direct assay
23485643 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
2351134 GOA
located in peroxisome IDA
IDA: Inferred from direct assay
2351134 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

CRAT Protein Structure

Carn_acyltransf

Carn_acyltransf: Choline/Carnitine o-acyltransferase (34 - 615)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 626 a.a.
Protein Preferred Names Protein Names

carnitine O-acetyltransferase

  • carnitine acetylase

Related Diseases

Diseases Alias
Neurodegeneration With Brain Iron Accumulation 8
  • NBIA8

Neurodegeneration With Brain Iron Accumulation
  • Nbia

  • Neurodegeneration With Brain Iron Accumulation Disorders

  • Neurodegeneration, With Brain Iron Accumulation

Carnitine Acetyltransferase Deficiency
  • Acetyl-Carnitine Deficiency

  • Deficiency Of Carnitine Acetyltransferase

Overnutrition
Basal Ganglia Disease
  • Basal Ganglia Diseases

  • Basal Ganglia Disorders

  • Abnormality Of The Basal Ganglia

Apical Myocardial Infarction
Carnitine Palmitoyltransferase I Deficiency
  • Carnitine Palmitoyl Transferase 1a Deficiency

  • Cpt1a Deficiency

  • Cpt I Deficiency

  • Carnitine Palmitoyl Transferase Ia Deficiency

  • Hepatic Carnitine Palmitoyl Transferase 1 Deficiency

  • Hepatic Carnitine Palmitoyl Transferase I Deficiency

  • L-Cpt1 Deficiency

  • Carnitine Palmitoyltransferase 1a Deficiency

  • Carnitine Palmitoyltransferase Ia Deficiency

  • Cpt Deficiency, Hepatic, Type I

  • Cpt Deficiency, Hepatic, Type Ia

  • Hepatic Carnitine Palmitoyltransferase 1 Deficiency

  • L-Cpti Deficiency

  • Hepatic Cpt Deficiency Type I

  • Hepatic Cpt1

  • L-Cpt 1 Deficiency

  • Cpt 1a Deficiency

  • Liver Form Of Carnitine Palmitoyltransferase Deficiency

  • CPT1AD

  • Cpt-I Deficiency

Narcolepsy
  • Paroxysmal Sleep

  • Gelineau Syndrome

  • Narcoleptic Syndrome

  • Narcolepsy-Cataplexy Syndrome

  • Cataplexy And Narcolepsy

  • Narcolepsy, Without Cataplexy

  • Gelineau'S Syndrome

  • Narcolepsy With Or Without Cataplexy

  • Narcolepsy Nos

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Myopathy
  • Muscular Diseases

  • Myopathies

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 CRAT VGNC VGNC:71483
Rattus norvegicus CRAT RGD RGD:1303031
Felis catus CRAT VGNC VGNC:61159
Mus musculus CRAT MGD MGI:109501
Bos taurus CRAT VGNC VGNC:27687
Canis familiaris CRAT VGNC VGNC:39592
Others CRAT NCBI