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Aliases for CPT1C Gene

Aliases for CPT1C Gene

  • Carnitine Palmitoyltransferase 1C 2 3 4
  • Carnitine O-Palmitoyltransferase I, Brain Isoform 3 4
  • EC 2.3.1.21 4 63
  • CPT1-B 3 4
  • CPTI-B 3 4
  • CATL1 3 4
  • Carnitine O-Palmitoyltransferase 1, Brain Isoform 3
  • Carnitine Palmitoyltransferase I Related C 3
  • CPT IC 4
  • CPT1P 3
  • CPTIC 3
  • SPG73 3

External Ids for CPT1C Gene

Previous GeneCards Identifiers for CPT1C Gene

  • GC19P050852
  • GC19P050562
  • GC19P054870
  • GC19P054886
  • GC19P050195
  • GC19P046571
  • GC19P050199
  • GC19P050207

Summaries for CPT1C Gene

Entrez Gene Summary for CPT1C Gene

  • 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]

GeneCards Summary for CPT1C Gene

CPT1C (Carnitine Palmitoyltransferase 1C) is a Protein Coding gene. Among its related pathways are AMPK Enzyme Complex Pathway and FOXA2 and FOXA3 transcription factor networks. GO annotations related to this gene include carnitine O-palmitoyltransferase activity. An important paralog of this gene is CRAT.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPT1C Gene

Genomics for CPT1C Gene

Regulatory Elements for CPT1C Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CPT1C Gene

Start:
49,690,898 bp from pter
End:
49,713,731 bp from pter
Size:
22,834 bases
Orientation:
Plus strand

Genomic View for CPT1C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CPT1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPT1C Gene

Proteins for CPT1C Gene

  • Protein details for CPT1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCG5-CPT1C_HUMAN
    Recommended name:
    Carnitine O-palmitoyltransferase 1, brain isoform
    Protein Accession:
    Q8TCG5
    Secondary Accessions:
    • A8K0Z8
    • Q5K6N5
    • Q8N6Q9
    • Q8NDS6
    • Q8TE84

    Protein attributes for CPT1C Gene

    Size:
    803 amino acids
    Molecular mass:
    90989 Da
    Quaternary structure:
    • Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including CPT1C. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).
    SequenceCaution:
    • Sequence=BAB85068.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD38561.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CPT1C Gene

    Alternative splice isoforms for CPT1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPT1C Gene

Proteomics data for CPT1C Gene at MOPED

Selected DME Specific Peptides for CPT1C Gene

Post-translational modifications for CPT1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for CPT1C Gene

Protein Domains for CPT1C Gene

Graphical View of Domain Structure for InterPro Entry

Q8TCG5

UniProtKB/Swiss-Prot:

CPT1C_HUMAN :
  • Q8TCG5
Family:
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CPT1C: view

No data available for Gene Families for CPT1C Gene

Function for CPT1C Gene

Molecular function for CPT1C Gene

UniProtKB/Swiss-Prot CatalyticActivity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine

Enzyme Numbers (IUBMB) for CPT1C Gene

Gene Ontology (GO) - Molecular Function for CPT1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004095 carnitine O-palmitoyltransferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups --
genes like me logo Genes that share ontologies with CPT1C: view
genes like me logo Genes that share phenotypes with CPT1C: view

Animal Models for CPT1C Gene

MGI Knock Outs for CPT1C:

Animal Model Products

CRISPR Products

miRNA for CPT1C Gene

miRTarBase miRNAs that target CPT1C

No data available for Transcription Factor Targeting and HOMER Transcription for CPT1C Gene

Localization for CPT1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPT1C Gene

Mitochondrion outer membrane; Multi-pass membrane protein. Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CPT1C Gene COMPARTMENTS Subcellular localization image for CPT1C gene
Compartment Confidence
mitochondrion 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for CPT1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0030054 cell junction IEA --
GO:0032281 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA --
genes like me logo Genes that share ontologies with CPT1C: view

Pathways for CPT1C Gene

genes like me logo Genes that share pathways with CPT1C: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q8TCG5-CPT1C_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Interacting Proteins for CPT1C Gene

Gene Ontology (GO) - Biological Process for CPT1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IEA --
GO:0008152 metabolic process --
GO:0009437 carnitine metabolic process IEA --
genes like me logo Genes that share ontologies with CPT1C: view

Compounds for CPT1C Gene

(1) HMDB Compounds for CPT1C Gene

Compound Synonyms Cas Number PubMed IDs
L-Carnitine
  • (-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate
541-15-1
genes like me logo Genes that share compounds with CPT1C: view

Transcripts for CPT1C Gene

Unigene Clusters for CPT1C Gene

Carnitine palmitoyltransferase 1C:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CPT1C

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CPT1C

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPT1C Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5:
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - -
SP9:
SP10:
SP11:
SP12:
SP13: -

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22a · 22b · 22c · 22d
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4:
SP5: - - - -
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11: -
SP12: -
SP13:

Relevant External Links for CPT1C Gene

GeneLoc Exon Structure for
CPT1C
ECgene alternative splicing isoforms for
CPT1C

Expression for CPT1C Gene

mRNA expression in normal human tissues for CPT1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CPT1C Gene

SOURCE GeneReport for Unigene cluster for CPT1C Gene Hs.112195

mRNA Expression by UniProt/SwissProt for CPT1C Gene

Q8TCG5-CPT1C_HUMAN
Tissue specificity: Expressed predominantly in brain and testis.
genes like me logo Genes that share expressions with CPT1C: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CPT1C Gene

Orthologs for CPT1C Gene

This gene was present in the common ancestor of animals.

Orthologs for CPT1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPT1C 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CPT1C 35
  • 87.7 (n)
  • 90.1 (a)
CPT1C 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CPT1C 35
  • 87.96 (n)
  • 90.29 (a)
CPT1C 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cpt1c 35
  • 81.7 (n)
  • 83.83 (a)
Cpt1c 16
Cpt1c 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CPT1C 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cpt1c 35
  • 81.27 (n)
  • 82.4 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 57 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii zgc:112484 36
  • 53 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta whd 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cpt-1 36
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for CPT1C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CPT1C Gene

ENSEMBL:
Gene Tree for CPT1C (if available)
TreeFam:
Gene Tree for CPT1C (if available)

Paralogs for CPT1C Gene

Paralogs for CPT1C Gene

Selected SIMAP similar genes for CPT1C Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with CPT1C: view

Variants for CPT1C Gene

Sequence variations from dbSNP and Humsavar for CPT1C Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs721883 -- 49,693,185(+) AACTC(C/T)TGCTC intron-variant
rs721885 -- 49,693,194(+) TCTGT(C/T)CCTGT intron-variant
rs892149 -- 49,691,588(-) CCATT(G/T)CCGCT intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs892150 -- 49,691,521(-) CCCCC(C/G)GCCCG intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs1053765 -- 49,713,511(+) GTTCA(A/G)AGGGT missense, reference, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for CPT1C Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833864 CNV Gain 17160897
nsv469715 CNV Complex 16826518
nsv833865 CNV Gain+Loss 17160897
dgv3972n71 CNV Loss 21882294
nsv912269 CNV Loss 21882294
nsv817854 CNV Gain 17921354
nsv470150 CNV Gain 18288195
nsv7308 OTHER Inversion 18451855
esv1580543 CNV Insertion 17803354
esv1209349 CNV Insertion 17803354

Relevant External Links for CPT1C Gene

HapMap Linkage Disequilibrium report
CPT1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT1C Gene

Disorders for CPT1C Gene

Relevant External Links for CPT1C

Genetic Association Database (GAD)
CPT1C
Human Genome Epidemiology (HuGE) Navigator
CPT1C
genes like me logo Genes that share disorders with CPT1C: view

No data available for UniProtKB/Swiss-Prot for CPT1C Gene

Publications for CPT1C Gene

  1. A novel brain-expressed protein related to carnitine palmitoyltransferase I. (PMID: 12376098) Price N. … Zammit V. (Genomics 2002) 2 3 4
  2. Genomics of the human carnitine acyltransferase genes. (PMID: 11001805) van der Leij F.R. … Bartelds B. (Mol. Genet. Metab. 2000) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CPT1C Gene

Sources for CPT1C Gene

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