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CPT1B carnitine palmitoyltransferase 1B [ Homo sapiens (human) ]

Gene ID: 1375, updated on 7-Jun-2020

Summary

Official Symbol
CPT1Bprovided by HGNC
Official Full Name
carnitine palmitoyltransferase 1Bprovided by HGNC
Primary source
HGNC:HGNC:2329
See related
Ensembl:ENSG00000205560 MIM:601987
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
CPTI; CPT1M; MCPT1; CPT1-M; CPTI-M; M-CPT1; MCCPT1
Summary
The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
Expression
Broad expression in heart (RPKM 59.4), testis (RPKM 39.6) and 20 other tissues See more
Orthologs

Genomic context

See CPT1B in Genome Data Viewer
Location:
22q13.33
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (50568861..50578612, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51007290..51017096, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene kelch domain containing 7B Neighboring gene synaptonemal complex central element protein 3 Neighboring gene uncharacterized LOC107985568 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene choline kinase beta Neighboring gene CHKB divergent transcript

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?

Phenotypes

NHGRI GWAS Catalog

Description
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 envelope glycoprotein (gp160) contains two palmitoylated cysteine residues C764 and C837; removal of both palmitoylation sites results in the formation of virus with low levels of gp160 incorporation, as well as a decrease in viral infectivity PubMed
Vpr vpr HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough CHKB-CPT1B

Readthrough gene: CHKB-CPT1B, Included gene: CHKB

Homology

Clone Names

  • FLJ55729, FLJ58750, KIAA1670

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carnitine O-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carnitine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carnitine shuttle TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
carnitine O-palmitoyltransferase 1, muscle isoform
Names
carnitine O-palmitoyltransferase 1B
carnitine O-palmitoyltransferase I, mitochondrial muscle isoform
carnitine palmitoyltransferase 1B (muscle)
carnitine palmitoyltransferase I-like protein
NP_001138606.1
NP_001138607.1
NP_001138609.1
NP_004368.1
NP_689451.1
NP_689452.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012643.1 RefSeqGene

    Range
    5056..14807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145134.2NP_001138606.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform c

    See identical proteins and their annotated locations for NP_001138606.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AK297866, BU615917, DC373481
    Consensus CDS
    CCDS46734.1
    UniProtKB/Swiss-Prot
    Q92523
    Related
    ENSP00000409342.1, ENST00000457250.5
    Conserved Domains (2) summary
    pfam00755
    Location:154727
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  2. NM_001145135.2NP_001138607.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

    See identical proteins and their annotated locations for NP_001138607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' and 3' UTRs, compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode the same isoform (a).
    Source sequence(s)
    AK223174, BC142954, BU615917, DC373481
    Consensus CDS
    CCDS14098.1
    UniProtKB/Swiss-Prot
    Q92523
    UniProtKB/TrEMBL
    A0A024R4W7, A5PLL0, Q53FV7
    Conserved Domains (2) summary
    pfam00755
    Location:173761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  3. NM_001145137.2NP_001138609.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

    See identical proteins and their annotated locations for NP_001138609.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' and 3' UTRs compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode the same isoform (a).
    Source sequence(s)
    BC142954, BI560870, BU615917, D87812
    Consensus CDS
    CCDS14098.1
    UniProtKB/Swiss-Prot
    Q92523
    UniProtKB/TrEMBL
    A0A024R4W7, A5PLL0
    Related
    ENSP00000385486.3, ENST00000405237.7
    Conserved Domains (2) summary
    pfam00755
    Location:173761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  4. NM_004377.4NP_004368.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

    See identical proteins and their annotated locations for NP_004368.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, 3, 6, and 8 all encode isoform a.
    Source sequence(s)
    AW297964, BU615917, CB961274, Y08683
    Consensus CDS
    CCDS14098.1
    UniProtKB/Swiss-Prot
    Q92523
    UniProtKB/TrEMBL
    A0A024R4W7
    Related
    ENSP00000379011.2, ENST00000395650.6
    Conserved Domains (2) summary
    pfam00755
    Location:173761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  5. NM_152245.3NP_689451.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

    See identical proteins and their annotated locations for NP_689451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode isoform a.
    Source sequence(s)
    AI142100, BU615917, DC373481, U66828
    Consensus CDS
    CCDS14098.1
    UniProtKB/Swiss-Prot
    Q92523
    UniProtKB/TrEMBL
    A0A024R4W7
    Conserved Domains (2) summary
    pfam00755
    Location:173761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  6. NM_152246.3NP_689452.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

    See identical proteins and their annotated locations for NP_689452.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode isoform a.
    Source sequence(s)
    BU615917, CB961274, Y08682
    Consensus CDS
    CCDS14098.1
    UniProtKB/Swiss-Prot
    Q92523
    UniProtKB/TrEMBL
    A0A024R4W7
    Related
    ENSP00000312189.7, ENST00000312108.11
    Conserved Domains (2) summary
    pfam00755
    Location:173761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    50568861..50578612 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001145136.1: Suppressed sequence

    Description
    NM_001145136.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_152247.1: Suppressed sequence

    Description
    NM_152247.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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