Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1384
Gene name Gene Name - the full gene name approved by the HGNC.	Carnitine O-acetyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CRAT
Synonyms (NCBI Gene) Gene synonyms aliases	CAT, CAT1, NBIA8
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.11
Summary Summary of gene provided in NCBI Entrez 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 a

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138665095	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs141970897	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs762425351	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(119)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020803	hsa-miR-155-5p	Proteomics	18668040
MIRT908142	hsa-miR-204	CLIP-seq
MIRT908143	hsa-miR-211	CLIP-seq
MIRT908144	hsa-miR-2355-5p	CLIP-seq
MIRT908145	hsa-miR-3122	CLIP-seq
MIRT908146	hsa-miR-3192	CLIP-seq
MIRT908147	hsa-miR-3692	CLIP-seq
MIRT908148	hsa-miR-3913-5p	CLIP-seq
MIRT908149	hsa-miR-4446-3p	CLIP-seq
MIRT908150	hsa-miR-4492	CLIP-seq
MIRT908151	hsa-miR-4498	CLIP-seq
MIRT908152	hsa-miR-4747-5p	CLIP-seq
MIRT908153	hsa-miR-4755-5p	CLIP-seq
MIRT908154	hsa-miR-623	CLIP-seq
MIRT908155	hsa-miR-762	CLIP-seq
MIRT1969215	hsa-miR-1908	CLIP-seq
MIRT1969216	hsa-miR-3141	CLIP-seq
MIRT1969217	hsa-miR-3914	CLIP-seq
MIRT1969218	hsa-miR-486-3p	CLIP-seq
MIRT1969219	hsa-miR-663	CLIP-seq
MIRT1969220	hsa-miR-873	CLIP-seq
MIRT2205149	hsa-miR-1202	CLIP-seq
MIRT2205150	hsa-miR-1207-5p	CLIP-seq
MIRT2205151	hsa-miR-1275	CLIP-seq
MIRT2205152	hsa-miR-1343	CLIP-seq
MIRT1969215	hsa-miR-1908	CLIP-seq
MIRT2205153	hsa-miR-1976	CLIP-seq
MIRT2205154	hsa-miR-199a-3p	CLIP-seq
MIRT2205155	hsa-miR-199b-3p	CLIP-seq
MIRT908142	hsa-miR-204	CLIP-seq
MIRT908143	hsa-miR-211	CLIP-seq
MIRT2205156	hsa-miR-214	CLIP-seq
MIRT908144	hsa-miR-2355-5p	CLIP-seq
MIRT2205157	hsa-miR-24	CLIP-seq
MIRT2205158	hsa-miR-3120-3p	CLIP-seq
MIRT908145	hsa-miR-3122	CLIP-seq
MIRT2205159	hsa-miR-3127-3p	CLIP-seq
MIRT2205160	hsa-miR-3129-5p	CLIP-seq
MIRT1969216	hsa-miR-3141	CLIP-seq
MIRT908146	hsa-miR-3192	CLIP-seq
MIRT2205161	hsa-miR-3194-3p	CLIP-seq
MIRT2205162	hsa-miR-3605-5p	CLIP-seq
MIRT2205163	hsa-miR-3612	CLIP-seq
MIRT2205164	hsa-miR-3619-5p	CLIP-seq
MIRT2205165	hsa-miR-3677-5p	CLIP-seq
MIRT908147	hsa-miR-3692	CLIP-seq
MIRT2205166	hsa-miR-370	CLIP-seq
MIRT2205167	hsa-miR-3908	CLIP-seq
MIRT908148	hsa-miR-3913-5p	CLIP-seq
MIRT1969217	hsa-miR-3914	CLIP-seq
MIRT2205168	hsa-miR-3925-3p	CLIP-seq
MIRT2205169	hsa-miR-3942-5p	CLIP-seq
MIRT2205170	hsa-miR-3972	CLIP-seq
MIRT2205171	hsa-miR-4260	CLIP-seq
MIRT2205172	hsa-miR-4270	CLIP-seq
MIRT2205173	hsa-miR-4284	CLIP-seq
MIRT2205174	hsa-miR-4421	CLIP-seq
MIRT2205175	hsa-miR-4441	CLIP-seq
MIRT908149	hsa-miR-4446-3p	CLIP-seq
MIRT2205176	hsa-miR-4481	CLIP-seq
MIRT908150	hsa-miR-4492	CLIP-seq
MIRT908151	hsa-miR-4498	CLIP-seq
MIRT2205177	hsa-miR-4508	CLIP-seq
MIRT2205178	hsa-miR-4653-3p	CLIP-seq
MIRT2205179	hsa-miR-4665-5p	CLIP-seq
MIRT2205180	hsa-miR-4695-5p	CLIP-seq
MIRT2205181	hsa-miR-4703-5p	CLIP-seq
MIRT2205182	hsa-miR-4715-5p	CLIP-seq
MIRT2205183	hsa-miR-4721	CLIP-seq
MIRT2205184	hsa-miR-4736	CLIP-seq
MIRT2205185	hsa-miR-4743	CLIP-seq
MIRT2205186	hsa-miR-4745-5p	CLIP-seq
MIRT908152	hsa-miR-4747-5p	CLIP-seq
MIRT908153	hsa-miR-4755-5p	CLIP-seq
MIRT2205187	hsa-miR-4758-5p	CLIP-seq
MIRT2205188	hsa-miR-4763-3p	CLIP-seq
MIRT2205189	hsa-miR-4766-3p	CLIP-seq
MIRT2205190	hsa-miR-4797-3p	CLIP-seq
MIRT2205191	hsa-miR-485-3p	CLIP-seq
MIRT1969218	hsa-miR-486-3p	CLIP-seq
MIRT2205192	hsa-miR-487a	CLIP-seq
MIRT2205193	hsa-miR-490-5p	CLIP-seq
MIRT2205194	hsa-miR-516b	CLIP-seq
MIRT2205195	hsa-miR-571	CLIP-seq
MIRT2205196	hsa-miR-621	CLIP-seq
MIRT908154	hsa-miR-623	CLIP-seq
MIRT2205197	hsa-miR-650	CLIP-seq
MIRT1969219	hsa-miR-663	CLIP-seq
MIRT2205198	hsa-miR-761	CLIP-seq
MIRT908155	hsa-miR-762	CLIP-seq
MIRT2205199	hsa-miR-766	CLIP-seq
MIRT1969220	hsa-miR-873	CLIP-seq
MIRT2205200	hsa-miR-889	CLIP-seq
MIRT2205201	hsa-miR-936	CLIP-seq
MIRT2508461	hsa-miR-1228	CLIP-seq
MIRT2205152	hsa-miR-1343	CLIP-seq
MIRT908145	hsa-miR-3122	CLIP-seq
MIRT908146	hsa-miR-3192	CLIP-seq
MIRT2508462	hsa-miR-3620	CLIP-seq
MIRT908148	hsa-miR-3913-5p	CLIP-seq
MIRT2205168	hsa-miR-3925-3p	CLIP-seq
MIRT2205174	hsa-miR-4421	CLIP-seq
MIRT2508463	hsa-miR-4749-3p	CLIP-seq
MIRT2205199	hsa-miR-766	CLIP-seq
MIRT2508461	hsa-miR-1228	CLIP-seq
MIRT2205152	hsa-miR-1343	CLIP-seq
MIRT908145	hsa-miR-3122	CLIP-seq
MIRT908146	hsa-miR-3192	CLIP-seq
MIRT2508462	hsa-miR-3620	CLIP-seq
MIRT908148	hsa-miR-3913-5p	CLIP-seq
MIRT2205168	hsa-miR-3925-3p	CLIP-seq
MIRT2205174	hsa-miR-4421	CLIP-seq
MIRT2205178	hsa-miR-4653-3p	CLIP-seq
MIRT2205182	hsa-miR-4715-5p	CLIP-seq
MIRT908152	hsa-miR-4747-5p	CLIP-seq
MIRT2508463	hsa-miR-4749-3p	CLIP-seq
MIRT2205193	hsa-miR-490-5p	CLIP-seq
MIRT2205195	hsa-miR-571	CLIP-seq
MIRT2205199	hsa-miR-766	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003997	Function	Acyl-CoA oxidase activity	IDA	23485643
GO:0004092	Function	Carnitine O-acetyltransferase activity	EXP	15099582
GO:0004092	Function	Carnitine O-acetyltransferase activity	IBA
GO:0004092	Function	Carnitine O-acetyltransferase activity	IDA	2351134, 15099582, 23485643
GO:0004092	Function	Carnitine O-acetyltransferase activity	IEA
GO:0004092	Function	Carnitine O-acetyltransferase activity	TAS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	2351134
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	2351134
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0008458	Function	Carnitine O-octanoyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0019254	Process	Carnitine metabolic process, CoA-linked	IBA
GO:0019254	Process	Carnitine metabolic process, CoA-linked	IDA	2351134, 15099582, 23485643
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IDA	23485643
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0046459	Process	Short-chain fatty acid metabolic process	IDA	23485643
GO:0051791	Process	Medium-chain fatty acid metabolic process	IDA	23485643

MIM	HGNC	e!Ensembl
600184	2342	ENSG00000095321

Protein

UniProt ID

P43155

Protein name

Carnitine O-acetyltransferase (Carnitine acetylase) (EC 2.3.1.137) (EC 2.3.1.7) (Carnitine acetyltransferase) (CAT) (CrAT)

Protein 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 (PubMed:15099582, PubMed:29395073). Responsibl

PDB

1NM8 , 1S5O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00755	Carn_acyltransf	35 → 615	Choline/Carnitine o-acyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Mostly in skeletal muscle, less in heart, liver and pancreas, only weakly detectable in brain, placenta, lung and kidney.

Sequence

MLAFAARTVVKPLGFLKPFSLMKASSRFKAHQDALPRLPVPPLQQSLDHYLKALQPIVSE
EEWAHTKQLVDEFQASGGVGERLQKGLERRARKTENWLSEWWLKTAYLQYRQPVVIYSSP
GVMLPKQDFVDLQGQLRFAAKLIEGVLDFKVMIDNETLPVEYLGGKPLCMNQYYQILSSC
RVPGPKQDTVSNFSKTKKPPTHITVVHNYQFFELDVYHSDGTPLTADQIFVQLEKIWNSS
LQTNKEPVGILTSNHRNSWAKAYNTLIKDKVNRDSVRSIQKSIFTVCLDATMPRVSEDVY
RSHVAGQMLHGGGSRLNSGNRWFDKTLQFIVAEDGSCGLVYEHAAAEGPPIVTLLDYVIE
YTKKPELVRSPLVPLPMPKKLRFNITPEIKSDIEKAKQNLSIMIQDLDITVMVFHHFGKD
FPKSEKLSPDAFIQMALQLAYYRIYGQACATYESASLRMFHLGRTDTIRSASMDSLTFVK
AMDDSSVTEHQKVELLRKAVQAHRGYTDRAIRGEAFDRHLLGLKLQAIEDLVSMPDIFMD
TSYAIAMHFHLSTSQVPAKTDCVMFFGPVVPDGYGVCYNPMEAHINFSLSAYNSCAETNA
ARLAHYLEKALLDMRALLQSHPRAKL

Sequence length

626

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Beta-oxidation of pristanoyl-CoA Peroxisomal protein import

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	neurodegeneration with brain iron accumulation 8	N/A	N/A	ClinVar
neurodegeneration with brain iron accumulation	Neurodegeneration with brain iron accumulation	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	35523821
Breast Neoplasms	Associate	35875026
Liver Diseases	Associate	39840890
Neoplasms	Associate	27189278
Neuroferritinopathy	Associate	35180557
Pantothenate Kinase Associated Neurodegeneration	Associate	39419454
Urinary Bladder Neoplasms	Inhibit	27189278

CRAT (carnitine O-acetyltransferase)