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

Gene ID: 126129, updated on 10-Dec-2019

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
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

Genomic context

See CPT1C in Genome Data Viewer
Location:
19q13.33
Exon count:
24
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (49690672..49713731)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50194363..50216988)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene interferon regulatory factor 3 Neighboring gene BCL2 like 12 Neighboring gene protein arginine methyltransferase 1 Neighboring gene microRNA 5088 Neighboring gene adrenomedullin 5 (putative) Neighboring gene ribosomal protein S9 pseudogene 4 Neighboring gene uncharacterized LOC105372434 Neighboring gene testis specific serine kinase substrate

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 BioSystems

  • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
    AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
    Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
    Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
    FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
    FOXA2 and FOXA3 transcription factor networks
  • Fatty acid degradation, organism-specific biosystem (from KEGG)
    Fatty acid degradation, organism-specific biosystem
    Fatty acid degradation
  • Fatty acid degradation, conserved biosystem (from KEGG)
    Fatty acid degradation, conserved biosystem
    Fatty acid degradation
  • Fatty acid metabolism, organism-specific biosystem (from KEGG)
    Fatty acid metabolism, organism-specific biosystem
    Fatty acid metabolism
  • Fatty acid metabolism, conserved biosystem (from KEGG)
    Fatty acid metabolism, conserved biosystem
    Fatty acid metabolism
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • PPAR signaling pathway, organism-specific biosystem (from KEGG)
    PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPAR signaling pathway, conserved biosystem (from KEGG)
    PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • mitochondrial L-carnitine shuttle, organism-specific biosystem (from BIOCYC)
    mitochondrial L-carnitine shuttle, organism-specific biosystemGeneral Background The : FAO-PWY pathway occurs in the mitochondrial matrix and plays an important role in energy production. During fasting, fatty acids are used for hepatic ketone-body synthesis. ...
  • mitochondrial L-carnitine shuttle, conserved biosystem (from BIOCYC)
    mitochondrial L-carnitine shuttle, conserved biosystemGeneral Background The mitochondrial |FRAME: CARNITINE| shuttle pathway is part of the cellular |FRAME: CARNITINE| system that regulates pools of |FRAME: CO-A| derivatives. This system is comprised...

General gene information

Markers

Homology

Clone Names

  • FLJ23809

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 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
carnitine O-palmitoyltransferase 1, brain isoform
Names
carnitine O-palmitoyltransferase I, brain isoform
carnitine palmitoyltransferase I related C
NP_001129524.1
NP_001186681.1
NP_001186682.1
NP_689572.1
XP_005258562.1
XP_005258563.1
XP_006723072.1
XP_011524742.1
XP_016881754.1
XP_016881755.1
XP_016881756.1
XP_016881757.1
XP_016881758.1
XP_016881760.1
XP_016881761.1
XP_016881762.1
XP_024307116.1
XP_024307117.1
XP_024307118.1
XP_024307119.1
XP_024307120.1
XP_024307121.1
XP_024307122.1
XP_024307123.1
XP_024307124.1
XP_024307125.1
XP_024307126.1

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_050570.1 RefSeqGene

    Range
    5231..27854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136052.2NP_001129524.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 1

    See identical proteins and their annotated locations for NP_001129524.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 3. This results in a shorter protein (isoform 1), compared to isoform 2.
    Source sequence(s)
    BC029104, BP194020
    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:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  2. NM_001199752.2NP_001186681.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See identical proteins and their annotated locations for NP_001186681.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (2). Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AK074389, AK096516, AK289713, BP194020
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5
    UniProtKB/TrEMBL
    A0A024QZE3, B3KU49
    Related
    ENSP00000376303.4, ENST00000392518.8
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  3. NM_001199753.1NP_001186682.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See identical proteins and their annotated locations for NP_001186682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AF357970, AK290092, BP194020
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5
    UniProtKB/TrEMBL
    A0A024QZE3
    Related
    ENSP00000473028.1, ENST00000598293.5
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  4. NM_152359.2NP_689572.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See identical proteins and their annotated locations for NP_689572.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AF357970, BP194020
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5
    UniProtKB/TrEMBL
    A0A024QZE3
    Related
    ENSP00000319343.4, ENST00000323446.9
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

RNA

  1. NR_108072.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate exon and an additional exon in the 5' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK096516, BC029104, BP194020, DB456457
    Related
    ENST00000598259.5

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    49690672..49713731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451351.1XP_024307119.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:171788
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  2. XM_024451350.1XP_024307118.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:171788
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  3. XM_017026267.1XP_016881756.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X8

  4. XM_024451353.1XP_024307121.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:171788
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  5. XM_005258505.2XP_005258562.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

    See identical proteins and their annotated locations for XP_005258562.1

    UniProtKB/Swiss-Prot
    Q8TCG5
    UniProtKB/TrEMBL
    A0A024QZE3
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  6. XM_024451349.1XP_024307117.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:171788
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  7. XM_017026265.1XP_016881754.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X5

    Conserved Domains (2) summary
    pfam00755
    Location:171713
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  8. XM_024451352.1XP_024307120.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:171788
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  9. XM_017026273.1XP_016881762.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X10

  10. XM_024451357.1XP_024307125.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X7

    Conserved Domains (1) summary
    pfam00755
    Location:9626
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  11. XM_017026272.1XP_016881761.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X10

  12. XM_024451358.1XP_024307126.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X7

    Conserved Domains (1) summary
    pfam00755
    Location:9626
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  13. XM_024451348.1XP_024307116.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:171788
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  14. XM_024451356.1XP_024307124.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X4

    Conserved Domains (2) summary
    pfam00755
    Location:171743
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  15. XM_011526440.3XP_011524742.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X5

    Conserved Domains (2) summary
    pfam00755
    Location:171713
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  16. XM_024451355.1XP_024307123.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

    Conserved Domains (2) summary
    pfam00755
    Location:171777
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  17. XM_017026266.2XP_016881755.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X6

  18. XM_024451354.1XP_024307122.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:171788
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  19. XM_005258506.4XP_005258563.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

    See identical proteins and their annotated locations for XP_005258563.1

    UniProtKB/Swiss-Prot
    Q8TCG5
    UniProtKB/TrEMBL
    A0A024QZE3
    Conserved Domains (2) summary
    pfam00755
    Location:171758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  20. XM_017026269.1XP_016881758.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X8

  21. XM_006723009.3XP_006723072.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X7

    Conserved Domains (1) summary
    pfam00755
    Location:9626
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  22. XM_017026268.1XP_016881757.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X8

  23. XM_017026271.1XP_016881760.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X9

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