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UniProtKB - P43155 (CACP_HUMAN)

Protein

Carnitine O-acetyltransferase

Gene

CRAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

Acetyl-CoA + carnitine = CoA + O-acetylcarnitine.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei343Proton acceptorCurated1
Binding sitei419Coenzyme ABy similarity1
Binding sitei452Carnitine1 Publication1
Binding sitei454Carnitine1 Publication1
Binding sitei456Coenzyme A; via amide nitrogenBy similarity1
Binding sitei465Carnitine1 Publication1
Binding sitei504Coenzyme ABy similarity1
Binding sitei555Coenzyme A; via carbonyl oxygenBy similarity1

GO - Molecular functioni

  • carnitine O-acetyltransferase activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processFatty acid metabolism, Lipid metabolism, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS01816-MONOMER
BRENDAi2.3.1.7 2681
ReactomeiR-HSA-389887 Beta-oxidation of pristanoyl-CoA
R-HSA-9033241 Peroxisomal protein import
SABIO-RKiP43155

Protein family/group databases

TCDBi4.C.2.1.1 the carnitine o-acyl transferase (crat) family

Chemistry databases

SwissLipidsiSLP:000001053
SLP:000001057 [P43155-1]
SLP:000001058 [P43155-2]

Names & Taxonomyi

Protein namesi
Recommended name:
Carnitine O-acetyltransferase (EC:2.3.1.7)
Short name:
Carnitine acetylase
Alternative name(s):
Carnitine acetyltransferase
Short name:
CAT
Short name:
CrAT
Gene namesi
Name:CRAT
Synonyms:CAT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000095321.16
HGNCiHGNC:2342 CRAT
MIMi600184 gene
neXtProtiNX_P43155

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion inner membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration with brain iron accumulation 8 (NBIA8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617917
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080636321R → H in NBIA8; unknown pathological significance; loss of expression at the protein level and drastic decrease in beta-oxidation of palmitate in homozygous patient's primary fibroblasts as compared to wild-type cells; primary fibroblasts from a homozygous patient show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs138665095EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi452Y → A: Increases the KM for carnitine 100-fold. 1 Publication1
Mutagenesisi452Y → F: Increases the KM for carnitine 320-fold and reduces enzyme activity 10000-fold. 1 Publication1
Mutagenesisi465T → A: Increases the KM for carnitine almost 70-fold and reduces enzyme activity 450-fold. 1 Publication1
Mutagenesisi518R → Q: Increases the KM for carnitine 230-fold and reduces enzyme activity almost 100-fold. 1 Publication1
Mutagenesisi566F → A: Increases the KM for carnitine 18-fold and reduces enzyme activity 100-fold. 1 Publication1
Mutagenesisi566F → Y: No effect. 1 Publication1

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNETi1384
MalaCardsiCRAT
MIMi617917 phenotype
OpenTargetsiENSG00000095321
PharmGKBiPA26862

Chemistry databases

ChEMBLiCHEMBL3184
DrugBankiDB02648 (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium
DB01992 Coenzyme A
DB00583 L-Carnitine

Polymorphism and mutation databases

BioMutaiCRAT
DMDMi215274265

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002101721 – 626Carnitine O-acetyltransferaseAdd BLAST626

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei93N6-succinyllysineBy similarity1
Modified residuei261N6-acetyllysine; alternateCombined sources1
Modified residuei261N6-succinyllysine; alternateBy similarity1
Modified residuei268N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP43155
MaxQBiP43155
PaxDbiP43155
PeptideAtlasiP43155
PRIDEiP43155
ProteomicsDBi55592
55593 [P43155-2]
55594 [P43155-3]

PTM databases

GlyConnecti1073
iPTMnetiP43155
PhosphoSitePlusiP43155

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000095321 Expressed in 229 organ(s), highest expression level in sperm
CleanExiHS_CRAT
ExpressionAtlasiP43155 baseline and differential
GenevisibleiP43155 HS

Organism-specific databases

HPAiHPA019230
HPA020260
HPA022815

Interactioni

Subunit structurei

Monomer.2 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107774, 7 interactors
IntActiP43155, 10 interactors
STRINGi9606.ENSP00000315013

Chemistry databases

BindingDBiP43155

Structurei

Secondary structure

1626
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00305
ProteinModelPortaliP43155
SMRiP43155
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP43155

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni423 – 430Coenzyme A bindingBy similarity8

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi624 – 626Microbody targeting signalSequence analysis3

Sequence similaritiesi

Belongs to the carnitine/choline acetyltransferase family.Curated

Phylogenomic databases

eggNOGiKOG3717 Eukaryota
ENOG410XNZ9 LUCA
GeneTreeiENSGT00760000119220
HOGENOMiHOG000233845
HOVERGENiHBG107717
InParanoidiP43155
OMAiKLPICMD
OrthoDBiEOG091G038F
PhylomeDBiP43155
TreeFamiTF313836

Family and domain databases

InterProiView protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
PANTHERiPTHR22589 PTHR22589, 1 hit
PfamiView protein in Pfam
PF00755 Carn_acyltransf, 1 hit
PROSITEiView protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P43155-1) [UniParc]FASTAAdd to basket
Also known as: SM-1400

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLAFAARTVV KPLGFLKPFS LMKASSRFKA HQDALPRLPV PPLQQSLDHY 
        60         70         80         90        100
LKALQPIVSE EEWAHTKQLV DEFQASGGVG ERLQKGLERR ARKTENWLSE 
       110        120        130        140        150
WWLKTAYLQY RQPVVIYSSP GVMLPKQDFV DLQGQLRFAA KLIEGVLDFK 
       160        170        180        190        200
VMIDNETLPV EYLGGKPLCM NQYYQILSSC RVPGPKQDTV SNFSKTKKPP 
       210        220        230        240        250
THITVVHNYQ FFELDVYHSD GTPLTADQIF VQLEKIWNSS LQTNKEPVGI 
       260        270        280        290        300
LTSNHRNSWA KAYNTLIKDK VNRDSVRSIQ KSIFTVCLDA TMPRVSEDVY 
       310        320        330        340        350
RSHVAGQMLH GGGSRLNSGN RWFDKTLQFI VAEDGSCGLV YEHAAAEGPP 
       360        370        380        390        400
IVTLLDYVIE YTKKPELVRS PLVPLPMPKK LRFNITPEIK SDIEKAKQNL 
       410        420        430        440        450
SIMIQDLDIT VMVFHHFGKD FPKSEKLSPD AFIQMALQLA YYRIYGQACA 
       460        470        480        490        500
TYESASLRMF HLGRTDTIRS ASMDSLTFVK AMDDSSVTEH QKVELLRKAV 
       510        520        530        540        550
QAHRGYTDRA IRGEAFDRHL LGLKLQAIED LVSMPDIFMD TSYAIAMHFH 
       560        570        580        590        600
LSTSQVPAKT DCVMFFGPVV PDGYGVCYNP MEAHINFSLS AYNSCAETNA 
       610        620 
ARLAHYLEKA LLDMRALLQS HPRAKL
Length:626
Mass (Da):70,858
Last modified:November 25, 2008 - v5
Checksum:i51B65E7C94E458D7
GO
Isoform 2 (identifier: P43155-2) [UniParc]FASTAAdd to basket
Also known as: SM-1200

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: Missing.

Note: No experimental confirmation available.
Show »
Length:605
Mass (Da):68,569
Checksum:i915540218D46D9C7
GO
Isoform 3 (identifier: P43155-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     282-363: Missing.

Show »
Length:544
Mass (Da):61,870
Checksum:i2AD5B9AA49773E5C
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6PVN3A6PVN3_HUMAN
Carnitine O-acetyltransferase
CRAT
161Annotation score:
H0Y4Z7H0Y4Z7_HUMAN
Carnitine O-acetyltransferase
CRAT
201Annotation score:
B7ZBP5B7ZBP5_HUMAN
Carnitine O-acetyltransferase
CRAT
98Annotation score:
H7C0E1H7C0E1_HUMAN
Carnitine O-acetyltransferase
CRAT
31Annotation score:
F2Z2C5F2Z2C5_HUMAN
Carnitine O-acetyltransferase
CRAT
40Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti88E → G in CAA55359 (PubMed:7829107).Curated1
Sequence conflicti349P → F in CAA55359 (PubMed:7829107).Curated1
Sequence conflicti517D → G in CAA55359 (PubMed:7829107).Curated1
Sequence conflicti534M → T in CAA55359 (PubMed:7829107).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080636321R → H in NBIA8; unknown pathological significance; loss of expression at the protein level and drastic decrease in beta-oxidation of palmitate in homozygous patient's primary fibroblasts as compared to wild-type cells; primary fibroblasts from a homozygous patient show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs138665095EnsemblClinVar.1
Natural variantiVAR_047780372L → M3 PublicationsCorresponds to variant dbSNP:rs3118635Ensembl.1
Natural variantiVAR_047781624A → P. Corresponds to variant dbSNP:rs17459086Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0007921 – 21Missing in isoform 2. CuratedAdd BLAST21
Alternative sequenceiVSP_012798282 – 363Missing in isoform 3. 2 PublicationsAdd BLAST82

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BT006801 mRNA Translation: AAP35447.1
AL158151 Genomic DNA No translation available.
BC000723 mRNA Translation: AAH00723.1
X79825 Genomic DNA No translation available.
X79827 Genomic DNA No translation available.
X78706 mRNA Translation: CAA55359.1
CCDSiCCDS6919.1 [P43155-1]
PIRiA55720
RefSeqiXP_005251765.1, XM_005251708.3 [P43155-2]
UniGeneiHs.12068

Genome annotation databases

EnsembliENST00000318080; ENSP00000315013; ENSG00000095321 [P43155-1]
GeneIDi1384
UCSCiuc004bxh.4 human [P43155-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BT006801 mRNA Translation: AAP35447.1
AL158151 Genomic DNA No translation available.
BC000723 mRNA Translation: AAH00723.1
X79825 Genomic DNA No translation available.
X79827 Genomic DNA No translation available.
X78706 mRNA Translation: CAA55359.1
CCDSiCCDS6919.1 [P43155-1]
PIRiA55720
RefSeqiXP_005251765.1, XM_005251708.3 [P43155-2]
UniGeneiHs.12068

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1NM8X-ray1.60A35-626[»]
1S5OX-ray1.80A35-626[»]
DisProtiDP00305
ProteinModelPortaliP43155
SMRiP43155
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107774, 7 interactors
IntActiP43155, 10 interactors
STRINGi9606.ENSP00000315013

Chemistry databases

BindingDBiP43155
ChEMBLiCHEMBL3184
DrugBankiDB02648 (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium
DB01992 Coenzyme A
DB00583 L-Carnitine
SwissLipidsiSLP:000001053
SLP:000001057 [P43155-1]
SLP:000001058 [P43155-2]

Protein family/group databases

TCDBi4.C.2.1.1 the carnitine o-acyl transferase (crat) family

PTM databases

GlyConnecti1073
iPTMnetiP43155
PhosphoSitePlusiP43155

Polymorphism and mutation databases

BioMutaiCRAT
DMDMi215274265

Proteomic databases

EPDiP43155
MaxQBiP43155
PaxDbiP43155
PeptideAtlasiP43155
PRIDEiP43155
ProteomicsDBi55592
55593 [P43155-2]
55594 [P43155-3]

Protocols and materials databases

DNASUi1384
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318080; ENSP00000315013; ENSG00000095321 [P43155-1]
GeneIDi1384
UCSCiuc004bxh.4 human [P43155-1]

Organism-specific databases

CTDi1384
DisGeNETi1384
EuPathDBiHostDB:ENSG00000095321.16
GeneCardsiCRAT
H-InvDBiHIX0169130
HGNCiHGNC:2342 CRAT
HPAiHPA019230
HPA020260
HPA022815
MalaCardsiCRAT
MIMi600184 gene
617917 phenotype
neXtProtiNX_P43155
OpenTargetsiENSG00000095321
PharmGKBiPA26862
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3717 Eukaryota
ENOG410XNZ9 LUCA
GeneTreeiENSGT00760000119220
HOGENOMiHOG000233845
HOVERGENiHBG107717
InParanoidiP43155
OMAiKLPICMD
OrthoDBiEOG091G038F
PhylomeDBiP43155
TreeFamiTF313836

Enzyme and pathway databases

BioCyciMetaCyc:HS01816-MONOMER
BRENDAi2.3.1.7 2681
ReactomeiR-HSA-389887 Beta-oxidation of pristanoyl-CoA
R-HSA-9033241 Peroxisomal protein import
SABIO-RKiP43155

Miscellaneous databases

ChiTaRSiCRAT human
EvolutionaryTraceiP43155
GeneWikiiCRAT_(gene)
GenomeRNAii1384
PROiPR:P43155
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000095321 Expressed in 229 organ(s), highest expression level in sperm
CleanExiHS_CRAT
ExpressionAtlasiP43155 baseline and differential
GenevisibleiP43155 HS

Family and domain databases

InterProiView protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
PANTHERiPTHR22589 PTHR22589, 1 hit
PfamiView protein in Pfam
PF00755 Carn_acyltransf, 1 hit
PROSITEiView protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCACP_HUMAN
AccessioniPrimary (citable) accession number: P43155
Secondary accession number(s): Q5T952, Q9BW16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 178 of the entry and version 5 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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