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 mitochond... See more...

Aliases for CRAT Gene

Aliases for CRAT Gene

  • Carnitine O-Acetyltransferase 2 3 4 5
  • Carnitine Acetyltransferase 2 4
  • Carnitine Acetylase 3 4
  • EC 2.3.1.7 4 52
  • CAT1 3 4
  • CAT 3 4
  • EC 2.3.1 52
  • NBIA8 3
  • CrAT 4

External Ids for CRAT Gene

Previous GeneCards Identifiers for CRAT Gene

  • GC09M122971
  • GC09M123503
  • GC09M125310
  • GC09M127233
  • GC09M128936
  • GC09M130896
  • GC09M131857
  • GC09M101464

Summaries for CRAT Gene

Entrez Gene Summary for CRAT Gene

  • 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]

GeneCards Summary for CRAT Gene

CRAT (Carnitine O-Acetyltransferase) is a Protein Coding gene. Diseases associated with CRAT include Neurodegeneration With Brain Iron Accumulation 8 and Neurodegeneration With Brain Iron Accumulation. Among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Peroxisomal lipid metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and carnitine O-acetyltransferase activity. An important paralog of this gene is CHAT.

UniProtKB/Swiss-Prot Summary for CRAT Gene

  • Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation. May be specific for short chain fatty acids.

Gene Wiki entry for CRAT Gene

Additional gene information for CRAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRAT Gene

Genomics for CRAT Gene

GeneHancer (GH) Regulatory Elements for CRAT Gene

Promoters and enhancers for CRAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRAT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CRAT

Top Transcription factor binding sites by QIAGEN in the CRAT gene promoter:
  • NF-kappaB
  • YY1

Genomic Locations for CRAT Gene

Genomic Locations for CRAT Gene
chr9:129,094,794-129,111,189
(GRCh38/hg38)
Size:
16,396 bases
Orientation:
Minus strand
chr9:131,857,073-131,873,468
(GRCh37/hg19)
Size:
16,396 bases
Orientation:
Minus strand

Genomic View for CRAT Gene

Genes around CRAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRAT Gene

Proteins for CRAT Gene

  • Protein details for CRAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43155-CACP_HUMAN
    Recommended name:
    Carnitine O-acetyltransferase
    Protein Accession:
    P43155
    Secondary Accessions:
    • Q5T952
    • Q9BW16

    Protein attributes for CRAT Gene

    Size:
    626 amino acids
    Molecular mass:
    70858 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CRAT Gene

    Alternative splice isoforms for CRAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRAT Gene

Selected DME Specific Peptides for CRAT Gene

P43155:
  • HITVVHN
  • DRHLLGL
  • NSGNRWFDKTLQFI
  • EYTKKPELVRSP
  • LPVPPLQQ
  • WWLKTAYL
  • ALQLAYYR
  • CATYESASLRMF
  • NSGNRWFDKT
  • AHYLEKALLDMR
  • QLEKIWN
  • QGQLRFAAKLIEG
  • DRHLLGLKLQAIEDLVS

Post-translational modifications for CRAT Gene

  • Glycosylation at Asn238 and Asn586
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for CRAT Gene

Gene Families for CRAT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CRAT Gene

Blocks:
  • Acyltransferase ChoActase/COT/CPT
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CRAT Gene

GenScript: Design optimal peptide antigens:
  • Carnitine acetyltransferase (A6PVN2_HUMAN)
  • Carnitine acetyltransferase (CACP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P43155

UniProtKB/Swiss-Prot:

CACP_HUMAN :
  • Belongs to the carnitine/choline acetyltransferase family.
Family:
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CRAT: view

Function for CRAT Gene

Molecular function for CRAT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation. May be specific for short chain fatty acids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-carnitine + acetyl-CoA = CoA + O-acetyl-(R)-carnitine; Xref=Rhea:RHEA:21136, ChEBI:CHEBI:16347, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57589; EC=2.3.1.7;.
GENATLAS Biochemistry:
carnitine acetyltransferase,localized in mitochondrial matrix,peroxisomes,and endoplasmic reticulum,specific for short chain fatty acyl-CoA (C2-C14)

Enzyme Numbers (IUBMB) for CRAT Gene

Phenotypes From GWAS Catalog for CRAT Gene

Gene Ontology (GO) - Molecular Function for CRAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004092 carnitine O-acetyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with CRAT: view
genes like me logo Genes that share phenotypes with CRAT: view

Human Phenotype Ontology for CRAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CRAT Gene

miRTarBase miRNAs that target CRAT

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CRAT Gene

Localization for CRAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRAT Gene

Endoplasmic reticulum. Peroxisome. Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
[Isoform 1]: Mitochondrion.
[Isoform 2]: Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRAT gene
Compartment Confidence
mitochondrion 5
peroxisome 5
endoplasmic reticulum 4
cytosol 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 2351134
GO:0005743 mitochondrial inner membrane IEA --
GO:0005777 peroxisome IDA,IBA 2351134
GO:0005782 peroxisomal matrix TAS --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with CRAT: view

Pathways & Interactions for CRAT Gene

genes like me logo Genes that share pathways with CRAT: view

Pathways by source for CRAT Gene

1 KEGG pathway for CRAT Gene
1 Qiagen pathway for CRAT Gene
  • AMPK Enzyme Complex Pathway

Gene Ontology (GO) - Biological Process for CRAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0019254 carnitine metabolic process, CoA-linked IDA 2351134
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase TAS --
genes like me logo Genes that share ontologies with CRAT: view

No data available for SIGNOR curated interactions for CRAT Gene

Drugs & Compounds for CRAT Gene

(67) Drugs for CRAT Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Carnitine Approved, Investigational Pharma Target 0
Acetylcarnitine Approved, Investigational Pharma 48
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Pharma Target 0
Propanoyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra Target 0

(53) Additional Compounds for CRAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
Phytanoyl-CoA
  • 3,7,11,15-Tetramethyl hexadecanoyl CoA
  • 3,7,11,15-Tetramethyl hexadecanoyl coenzyme A
  • Phytanoyl CoA
  • Phytanoyl coenzyme A
  • Phytanoyl-coenzyme A
146622-45-9
Propionylcarnitine
  • 3-Carboxy-N,N,N-trimethyl-2-(1-oxopropoxy)-1-propanaminium inner salt
  • O-Propionylcarnitine
  • Propionyl carnitine
  • (+/-)-propionylcarnitine chloride
  • (3-Carboxy-2-hydroxypropyl)trimethyl-hydroxide ammonium inner salt
17298-37-2
genes like me logo Genes that share compounds with CRAT: view

Transcripts for CRAT Gene

mRNA/cDNA for CRAT Gene

8 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRAT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a ·
SP1: -
SP2: - - - - - -
SP3: - - -
SP4:
SP5: -
SP6: - -
SP7: -
SP8: - - -

ExUns: 17b · 17c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CRAT Gene

GeneLoc Exon Structure for
CRAT

Expression for CRAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRAT Gene

mRNA differential expression in normal tissues according to GTEx for CRAT Gene

This gene is overexpressed in Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for CRAT Gene

This gene is overexpressed in Heart (10.9), Tonsil (8.3), and Liver (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRAT Gene



Protein tissue co-expression partners for CRAT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CRAT

SOURCE GeneReport for Unigene cluster for CRAT Gene:

Hs.12068

mRNA Expression by UniProt/SwissProt for CRAT Gene:

P43155-CACP_HUMAN
Tissue specificity: Mostly in skeletal muscle, less in heart, liver and pancreas, only weakly detectable in brain, placenta, lung and kidney.

Evidence on tissue expression from TISSUES for CRAT Gene

  • Liver(4.6)
  • Muscle(3.4)
  • Nervous system(2.8)
  • Skin(2.7)
  • Heart(2.5)
genes like me logo Genes that share expression patterns with CRAT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CRAT Gene

Orthologs for CRAT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CRAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRAT 31 30
  • 99.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MGC142781 31
  • 93 (a)
OneToOne
CRAT 30
  • 89.51 (n)
dog
(Canis familiaris)
Mammalia CRAT 31 30
  • 89.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Crat 17 31 30
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Crat 30
  • 86.26 (n)
oppossum
(Monodelphis domestica)
Mammalia CRAT 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRAT 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRAT 31 30
  • 73.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRAT 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crat.1 30
  • 73.17 (n)
zebrafish
(Danio rerio)
Actinopterygii crata 31 30
  • 71.19 (n)
OneToMany
CRAT (2 of 3) 31
  • 67 (a)
OneToMany
cratb 31
  • 54 (a)
OneToMany
hmzeh0248 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9411 30
fruit fly
(Drosophila melanogaster)
Insecta CG5122 31 32 30
  • 50.65 (n)
ManyToMany
Cha 32
  • 35 (a)
CG1041 31 32
  • 34 (a)
ManyToMany
CG5265 31 32
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea B0395.3 31 32 30
  • 47.85 (n)
ManyToMany
cha-1 32
  • 31 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR124C 30
  • 47.34 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAT2 33 31 30
  • 42.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A02123g 30
  • 41.08 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08002 30
  • 52.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.15540 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15540 30
Species where no ortholog for CRAT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRAT Gene

ENSEMBL:
Gene Tree for CRAT (if available)
TreeFam:
Gene Tree for CRAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRAT: view image

Paralogs for CRAT Gene

Paralogs for CRAT Gene

(7) SIMAP similar genes for CRAT Gene using alignment to 6 proteins:

  • CACP_HUMAN
  • A6PVN3_HUMAN
  • B7ZBP5_HUMAN
  • F2Z2C5_HUMAN
  • H0Y4Z7_HUMAN
  • H7C0E1_HUMAN
genes like me logo Genes that share paralogs with CRAT: view

Variants for CRAT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CRAT Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
684522 Not Provided: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 129,100,665(-) C/T MISSENSE_VARIANT
rs138665095 Pathogenic/Likely Pathogenic: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; Neurodegeneration with brain iron accumulation. Neurodegeneration with brain iron accumulation 8 (NBIA8) [MIM:617917] 129,100,533(-) C/Tp.Arg321His MISSENSE_VARIANT
rs141970897 Likely Pathogenic: Deficiency of carnitine acetyltransferase 129,104,269(-) T/C MISSENSE_VARIANT
rs762425351 Likely Pathogenic: Deficiency of carnitine acetyltransferase 129,095,573(-) C/T MISSENSE_VARIANT
rs17459086 - p.Ala624Pro

Additional dbSNP identifiers (rs#s) for CRAT Gene

Structural Variations from Database of Genomic Variants (DGV) for CRAT Gene

Variant ID Type Subtype PubMed ID
nsv509323 CNV insertion 20534489
nsv818725 CNV gain 17921354
nsv831729 CNV loss 17160897

Variation tolerance for CRAT Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.19; 61.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRAT Gene

Human Gene Mutation Database (HGMD)
CRAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRAT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRAT Gene

Disorders for CRAT Gene

MalaCards: The human disease database

(9) MalaCards diseases for CRAT Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CRAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CACP_HUMAN
  • Neurodegeneration with brain iron accumulation 8 (NBIA8) [MIM:617917]: A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Disease onset is in early childhood. Clinical features include speech delay, progressive cerebellar ataxia, unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:29395073}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CRAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CRAT: view

No data available for Genatlas for CRAT Gene

Publications for CRAT Gene

  1. Structural and mutational characterization of L-carnitine binding to human carnitine acetyltransferase. (PMID: 15099582) Govindasamy L … Wu D (Journal of structural biology 2004) 3 4 23 26 54
  2. Structure of human carnitine acetyltransferase. Molecular basis for fatty acyl transfer. (PMID: 12562770) Wu D … McKenna R (The Journal of biological chemistry 2003) 3 4 23 26 54
  3. Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1. (PMID: 7829107) Corti O … DiDonato S (Genomics 1994) 2 3 4 23 54
  4. Divergent sequences in the 5' region of cDNA suggest alternative splicing as a mechanism for the generation of carnitine acetyltransferases with different subcellular localizations. (PMID: 7945262) Corti O … Finocchiaro G (The Biochemical journal 1994) 3 4 23 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for CRAT Gene