Format

Send to:

Choose Destination

CRAT carnitine O-acetyltransferase [ Homo sapiens (human) ]

Gene ID: 1384, updated on 8-Jul-2021

Summary

Official Symbol
CRATprovided by HGNC
Official Full Name
carnitine O-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:2342
See related
Ensembl:ENSG00000095321 MIM:600184
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAT; CAT1; NBIA8
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 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]
Expression
Broad expression in testis (RPKM 76.6), duodenum (RPKM 25.0) and 23 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CRAT in Genome Data Viewer
Location:
9q34.11
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (129094794..129110793, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131857073..131873072, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene mitoguardin 2 Neighboring gene dolichyldiphosphatase 1 Neighboring gene protein phosphatase 2 phosphatase activator Neighboring gene Sharpr-MPRA regulatory region 8657 Neighboring gene Sharpr-MPRA regulatory region 13939 Neighboring gene immediate early response 5 like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acyl-CoA oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables carnitine O-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables carnitine O-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables carnitine O-acetyltransferase activity TAS
Traceable Author Statement
more info
 
enables carnitine O-octanoyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
carnitine O-acetyltransferase
Names
carnitine acetylase
NP_000746.3
NP_001244292.2
NP_001333475.2
NP_001333476.2
NP_001333477.2
NP_001333478.2
NP_003994.3
XP_005251765.1
XP_016869764.1
XP_024303182.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_000755.5NP_000746.3  carnitine O-acetyltransferase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL158151
    Consensus CDS
    CCDS6919.1
    Related
    ENSP00000315013.2, ENST00000318080.7
    Conserved Domains (1) summary
    pfam00755
    Location:35611
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. NM_001257363.3NP_001244292.2  carnitine O-acetyltransferase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. Variants 2 and 6 encode the same protein.
    Source sequence(s)
    AL158151
    Conserved Domains (1) summary
    pfam00755
    Location:14594
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  3. NM_001346546.2NP_001333475.2  carnitine O-acetyltransferase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL158151
    Conserved Domains (1) summary
    pfam00755
    Location:36616
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  4. NM_001346547.2NP_001333476.2  carnitine O-acetyltransferase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AL158151
    Related
    ENSP00000506267.1, ENST00000681627.1
    Conserved Domains (1) summary
    pfam00755
    Location:35591
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  5. NM_001346548.2NP_001333477.2  carnitine O-acetyltransferase isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AL158151
    Conserved Domains (1) summary
    pfam00755
    Location:14570
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  6. NM_001346549.2NP_001333478.2  carnitine O-acetyltransferase isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AL158151
    Related
    ENSP00000395458.2, ENST00000455396.2
    Conserved Domains (1) summary
    pfam00755
    Location:35575
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  7. NM_004003.4NP_003994.3  carnitine O-acetyltransferase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. Variants 2 and 6 encode the same protein.
    Source sequence(s)
    AL158151
    Conserved Domains (1) summary
    pfam00755
    Location:14594
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    129094794..129110793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251708.4XP_005251765.1  carnitine O-acetyltransferase isoform X3

    UniProtKB/Swiss-Prot
    P43155
    Conserved Domains (1) summary
    pfam00755
    Location:14594
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. XM_024447414.1XP_024303182.1  carnitine O-acetyltransferase isoform X2

    Conserved Domains (1) summary
    pfam00755
    Location:31607
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  3. XM_017014275.1XP_016869764.1  carnitine O-acetyltransferase isoform X1

    Conserved Domains (1) summary
    pfam00755
    Location:36616
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144782.1: Suppressed sequence

    Description
    NM_144782.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Support Center