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

    Gene ID: 1375, updated on 23-Mar-2024

    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; AllianceGenome:HGNC:2329
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CPT1B in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50568861..50578612, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51079388..51089140, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51007290..51017041, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13996 Neighboring gene kelch domain containing 7B Neighboring gene synaptonemal complex central element protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50999771-50999969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13997 Neighboring gene uncharacterized LOC107985568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19331 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 1531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14002 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

    EBI 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.
    EBI GWAS Catalog
    Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
    EBI GWAS 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

    Clone Names

    • FLJ55729, FLJ58750, KIAA1670

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carnitine O-palmitoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carnitine O-palmitoyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables carnitine O-palmitoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables carnitine O-palmitoyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carnitine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carnitine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in carnitine shuttle TAS
    Traceable Author Statement
    more info
     
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in long-chain fatty acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to blue light ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    carnitine O-palmitoyltransferase 1, muscle isoform
    Names
    carnitine O-palmitoyltransferase 1B
    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)

    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.

    Genomic

    1. NG_012643.1 RefSeqGene

      Range
      5241..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/TrEMBL
      A5PLL0
      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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      Related
      ENSP00000312189.8, ENST00000312108.12
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51079388..51089140 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.