CRAT
entrez
1384
canonical
uniprot
P43155
canonical
ensembl
ENSG00000095321
resolver
ensp
ENSP00000315013
resolver
ensp
ENSP00000395458
resolver
ensp
ENSP00000506267
resolver
enst
ENST00000455396
resolver
enst
ENST00000681627
resolver
genesymbol
CRAT
resolver
genesymbol_syn
CAT1
resolver
hgnc
HGNC:2342
resolver
uniprot
A0A7P0TAR1
resolver
uniprot
H0Y4Z7
resolver
uniprot
Q5T952
resolver
uniprot
Q9BW16
resolver
uniprot_entry
A0A7P0TAR1_HUMAN
resolver
uniprot_entry
CACP_HUMAN
resolver
uniprot_entry
H0Y4Z7_HUMAN
resolver
uniprot_sec
Q5T952
resolver
uniprot_sec
Q9BW16
resolver
amino_acid_sequence
MLAFAARTVVKPLGFLKPFSLMKASSRFKAHQDALPRLPVPPLQQSLDHYLKALQPIVSEEEWAHTKQLVDEFQASGGVGERLQKGLERRARKTENWLSEWWLKTAYLQYRQPVVIYSSPGVMLPKQDFVDLQGQLRFAAKLIEGVLDFKVMIDNETLPVEYLGGKPLCMNQYYQILSSCRVPGPKQDTVSNFSKTKKPPTHITVVHNYQFFELDVYHSDGTPLTADQIFVQLEKIWNSSLQTNKEPVGILTSNHRNSWAKAYNTLIKDKVNRDSVRSIQKSIFTVCLDATMPRVSEDVYRSHVAGQMLHGGGSRLNSGNRWFDKTLQFIVAEDGSCGLVYEHAAAEGPPIVTLLDYVIEYTKKPELVRSPLVPLPMPKKLRFNITPEIKSDIEKAKQNLSIMIQDLDITVMVFHHFGKDFPKSEKLSPDAFIQMALQLAYYRIYGQACATYESASLRMFHLGRTDTIRSASMDSLTFVKAMDDSSVTEHQKVELLRKAVQAHRGYTDRAIRGEAFDRHLLGLKLQAIEDLVSMPDIFMDTSYAIAMHFHLSTSQVPAKTDCVMFFGPVVPDGYGVCYNPMEAHINFSLSAYNSCAETNAARLAHYLEKALLDMRALLQSHPRAKL
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.137
uniprot
proteins
ec_number
2.3.1.7
uniprot
proteins
function
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). Responsible for the synthesis of short- and branched-chain acylcarnitines (PubMed:23485643). Active towards some branched-chain amino acid oxidation pathway (BCAAO) intermediates (PubMed:23485643). Trans-2-enoyl-CoAs and 2-methylacyl-CoAs are poor substrates (PubMed:23485643). {ECO:0000269|PubMed:15099582, ECO:0000269|PubMed:23485643, ECO:0000269|PubMed:29395073}.
uniprot
proteins
mass_dalton
70858
uniprot
proteins
mutagenesis
MUTAGEN 452; /note="Y->A: Increases the KM for carnitine 100-fold."; /evidence="ECO:0000269|PubMed:15099582"; MUTAGEN 452; /note="Y->F: Increases the KM for carnitine 320-fold and reduces enzyme activity 10000-fold."; /evidence="ECO:0000269|PubMed:15099582"; MUTAGEN 465; /note="T->A: Increases the KM for carnitine almost 70-fold and reduces enzyme activity 450-fold."; /evidence="ECO:0000269|PubMed:15099582"; MUTAGEN 518; /note="R->Q: Increases the KM for carnitine 230-fold and reduces enzyme activity almost 100-fold."; /evidence="ECO:0000269|PubMed:15099582"; MUTAGEN 566; /note="F->A: Increases the KM for carnitine 18-fold and reduces enzyme activity 100-fold."; /evidence="ECO:0000269|PubMed:15099582"; MUTAGEN 566; /note="F->Y: No effect."; /evidence="ECO:0000269|PubMed:15099582
uniprot
proteins
protein_family
Carnitine/choline acetyltransferase family
uniprot
proteins
pubmed
12562770
uniprot
proteins
pubmed
15099582
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
23485643
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29395073
uniprot
proteins
pubmed
7829107
uniprot
proteins
pubmed
7945262
uniprot
proteins
sequence_length
626
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000305}. Peroxisome {ECO:0000305}. Mitochondrion inner membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000305|PubMed:23485643}.; SUBCELLULAR LOCATION: [Isoform 2]: Peroxisome {ECO:0000305|PubMed:23485643}.
uniprot
proteins