CRAT (carnitine O-acetyltransferase)

Gene

• Entrez ID: 1384
• Gene name: Carnitine O-acetyltransferase
• Gene symbol: CRAT
• Synonyms: CAT, CAT1, NBIA8
• Chromosome: 9
• Chromosome location: 9q34.11
• 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 a

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003997	Function	Acyl-CoA oxidase activity	IDA	23485643
GO:0004092	Function	Carnitine O-acetyltransferase activity	IBA	21873635
GO:0004092	Function	Carnitine O-acetyltransferase activity	IDA	2351134, 15099582, 23485643
GO:0004092	Function	Carnitine O-acetyltransferase activity	TAS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IDA	2351134
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	2351134
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0008458	Function	Carnitine O-octanoyltransferase activity	IEA
GO:0019254	Process	Carnitine metabolic process, CoA-linked	IBA	21873635
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

Other IDs

• MIM: 600184
• HGNC: 2342
• e!Ensembl: 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

• Sequence:

  MLAFAARTVVKPLGFLKPFSLMKASSRFKAHQDALPRLPVPPLQQSLDHYLKALQPIVSE
  EEWAHTKQLVDEFQASGGVGERLQKGLERRARKTENWLSEWWLKTAYLQYRQPVVIYSSP
  GVMLPKQDFVDLQGQLRFAAKLIEGVLDFKVMIDNETLPVEYLGGKPLCMNQYYQILSSC
  RVPGPKQDTVSNFSKTKKPPTHITVVHNYQFFELDVYHSDGTPLTADQIFVQLEKIWNSS
  LQTNKEPVGILTSNHRNSWAKAYNTLIKDKVNRDSVRSIQKSIFTVCLDATMPRVSEDVY
  RSHVAGQMLHGGGSRLNSGNRWFDKTLQFIVAEDGSCGLVYEHAAAEGPPIVTLLDYVIE
  YTKKPELVRSPLVPLPMPKKLRFNITPEIKSDIEKAKQNLSIMIQDLDITVMVFHHFGKD
  FPKSEKLSPDAFIQMALQLAYYRIYGQACATYESASLRMFHLGRTDTIRSASMDSLTFVK
  AMDDSSVTEHQKVELLRKAVQAHRGYTDRAIRGEAFDRHLLGLKLQAIEDLVSMPDIFMD
  TSYAIAMHFHLSTSQVPAKTDCVMFFGPVVPDGYGVCYNPMEAHINFSLSAYNSCAETNA
  ARLAHYLEKALLDMRALLQSHPRAKL

• Sequence length: 626

Pathways

KEGG:

Peroxisome

Reactome:

Beta-oxidation of pristanoyl-CoA
Peroxisomal protein import

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Nephropathy with pretibial epidermolysis bullosa and deafness	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8	rs121908681, rs587784343, rs587784353, rs121908685, rs121908686, rs200075782, rs587784350, rs149712244, rs535486098, rs587784330, rs797045888, rs1555978219, rs1554292444, rs1569243771	29395073

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Motor delay	Clumsiness - motor delay
Sensory neuropathy	Sensory neuropathy