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CPT1C carnitine palmitoyltransferase 1C [ Homo sapiens (human) ]

Gene ID: 126129, updated on 19-Nov-2022

Summary

Official Symbol
CPT1Cprovided by HGNC
Official Full Name
carnitine palmitoyltransferase 1Cprovided by HGNC
Primary source
HGNC:HGNC:18540
See related
Ensembl:ENSG00000169169 MIM:608846; AllianceGenome:HGNC:18540
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
CATL1; CPT1P; CPTIC; SPG73; CPT1-B; CPTI-B
Summary
This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression
Biased expression in brain (RPKM 10.7), endometrium (RPKM 2.3) and 9 other tissues See more
Orthologs
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Genomic context

See CPT1C in Genome Data Viewer
Location:
19q13.33
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49690662..49713731)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52690916..52713875)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50194105..50216988)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein arginine methyltransferase 1 Neighboring gene microRNA 5088 Neighboring gene adrenomedullin 5 (putative) Neighboring gene CRISPRi-validated cis-regulatory element chr19.5489 Neighboring gene ribosomal protein S9 pseudogene 4

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?

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
capsid gag The interaction of HIV-1 CA with human cellular carnitine palmitoyltransferase 1C protein (CPT1C) is identified by yeast two-hybrid screen 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

Homology

Clone Names

  • FLJ23809

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carnitine O-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
carnitine O-palmitoyltransferase 1, brain isoform
Names
carnitine palmitoyltransferase I related C
NP_001129524.1
NP_001186681.1
NP_001186682.1
NP_001365411.1
NP_001365412.1
NP_001365413.1
NP_001365414.1
NP_001365415.1
NP_001365416.1
NP_001365417.1
NP_689572.1
XP_047294107.1
XP_047294108.1
XP_047294109.1
XP_047294110.1
XP_047294111.1
XP_047294112.1
XP_047294113.1
XP_047294114.1
XP_047294115.1
XP_047294116.1
XP_047294117.1
XP_047294118.1

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_050570.1 RefSeqGene

    Range
    5239..27854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136052.3NP_001129524.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 1

    See identical proteins and their annotated locations for NP_001129524.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS46147.1
    UniProtKB/Swiss-Prot
    Q8TCG5
    UniProtKB/TrEMBL
    A0A024QZI3
    Related
    ENSP00000384465.2, ENST00000405931.6
    Conserved Domains (2) summary
    pfam00755
    Location:171747
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  2. NM_001199752.3NP_001186681.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See identical proteins and their annotated locations for NP_001186681.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    A0A024QZE3, B3KU49
    Related
    ENSP00000376303.4, ENST00000392518.8
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  3. NM_001199753.2NP_001186682.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See identical proteins and their annotated locations for NP_001186682.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    A0A024QZE3
    Related
    ENSP00000473028.1, ENST00000598293.6
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  4. NM_001378482.1NP_001365411.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Conserved Domains (2) summary
    pfam00755
    Location:171780
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  5. NM_001378483.1NP_001365412.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TE84
    UniProtKB/TrEMBL
    A0A024QZE3
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  6. NM_001378484.1NP_001365413.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TE84
    UniProtKB/TrEMBL
    A0A024QZE3
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  7. NM_001378485.1NP_001365414.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS46147.1
    UniProtKB/TrEMBL
    A0A024QZI3
    Conserved Domains (2) summary
    pfam00755
    Location:171747
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  8. NM_001378486.1NP_001365415.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Conserved Domains (2) summary
    pfam00755
    Location:171713
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  9. NM_001378487.1NP_001365416.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Conserved Domains (2) summary
    pfam00755
    Location:171702
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  10. NM_001378488.1NP_001365417.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Conserved Domains (2) summary
    pfam00755
    Location:171713
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  11. NM_152359.3NP_689572.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See identical proteins and their annotated locations for NP_689572.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    A0A024QZE3
    Related
    ENSP00000319343.4, ENST00000323446.9
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:147
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

RNA

  1. NR_108072.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Related
    ENST00000598259.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49690662..49713731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438151.1XP_047294107.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  2. XM_047438161.1XP_047294117.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X5

  3. XM_047438153.1XP_047294109.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  4. XM_047438159.1XP_047294115.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

    UniProtKB/TrEMBL
    A0A024QZI3
  5. XM_047438160.1XP_047294116.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X4

  6. XM_047438157.1XP_047294113.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

    UniProtKB/Swiss-Prot
    Q8TE84
    UniProtKB/TrEMBL
    A0A024QZE3
  7. XM_047438156.1XP_047294112.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

    UniProtKB/Swiss-Prot
    Q8TE84
    UniProtKB/TrEMBL
    A0A024QZE3
  8. XM_047438152.1XP_047294108.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  9. XM_047438155.1XP_047294111.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  10. XM_047438154.1XP_047294110.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  11. XM_047438158.1XP_047294114.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

    UniProtKB/TrEMBL
    A0A024QZI3
  12. XM_047438162.1XP_047294118.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52690916..52713875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)