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UniProtKB - Q8TCG5 (CPT1C_HUMAN)

Entry version 137 (13 Feb 2019)
Sequence version 1 (01 Jun 2002)
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Protein

Carnitine O-palmitoyltransferase 1, brain isoform

Gene

CPT1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May play a role in lipid metabolic process.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: fatty acid beta-oxidation

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei470Proton acceptorBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei586CarnitineBy similarity1
Binding sitei588CarnitineBy similarity1
Binding sitei599CarnitineBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • carnitine O-palmitoyltransferase activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processFatty acid metabolism, Lipid metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS09892-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.1.21 2681

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8TCG5

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi
UPA00659

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Carnitine O-palmitoyltransferase 1, brain isoform (EC:2.3.1.21)
Short name:
CPT1-B
Alternative name(s):
CPT IC
Carnitine O-palmitoyltransferase I, brain isoform
Short name:
CPTI-B
Carnitine palmitoyltransferase 1C
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CPT1C
Synonyms:CATL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000169169.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:18540 CPT1C

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608846 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TCG5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 52CytoplasmicSequence analysisAdd BLAST52
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei53 – 75HelicalSequence analysisAdd BLAST23
Topological domaini76 – 103Mitochondrial intermembraneSequence analysisAdd BLAST28
Transmembranei104 – 126HelicalSequence analysisAdd BLAST23
Topological domaini127 – 803CytoplasmicSequence analysisAdd BLAST677

Keywords - Cellular componenti

Cell junction, Cell projection, Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion outer membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 73, autosomal dominant (SPG73)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:616282
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07343337R → C in SPG73; alters protein conformation; dominant negative mutation. 1 PublicationCorresponds to variant dbSNP:rs786204767EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		126129

MalaCards human disease database

More...MalaCardsi		CPT1C
MIMi616282 phenotype

Open Targets

More...OpenTargetsi		ENSG00000169169

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		444099 Autosomal dominant spastic paraplegia type 73

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134922321

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CPT1C

Domain mapping of disease mutations (DMDM)

More...DMDMi		57013809

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002101661 – 803Carnitine O-palmitoyltransferase 1, brain isoformAdd BLAST803

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8TCG5

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8TCG5

PeptideAtlas

More...PeptideAtlasi		Q8TCG5

PRoteomics IDEntifications database

More...PRIDEi		Q8TCG5

ProteomicsDB human proteome resource

More...ProteomicsDBi		74135
74136 [Q8TCG5-2]
74137 [Q8TCG5-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TCG5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8TCG5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed predominantly in brain and testis. Expressed in motor neurons.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000169169 Expressed in 132 organ(s), highest expression level in cerebellar hemisphere

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TCG5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TCG5 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA014529
HPA063621

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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). Interacts with ATL1 (PubMed:25751282).By similarity1 Publication

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000319343

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1803
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M76NMR-A1-50[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q8TCG5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8TCG5

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni552 – 564Coenzyme A bindingBy similarityAdd BLAST13

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the carnitine/choline acetyltransferase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3717 Eukaryota
ENOG410XNZ9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153610

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000233542

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG003458

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TCG5

KEGG Orthology (KO)

More...KOi		K19524

Identification of Orthologs from Complete Genome Data

More...OMAi		NIDCHVF

Database of Orthologous Groups

More...OrthoDBi		559299at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TCG5

TreeFam database of animal gene trees

More...TreeFami		TF313836

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
IPR032476 CPT_N

The PANTHER Classification System

More...PANTHERi		PTHR22589 PTHR22589, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00755 Carn_acyltransf, 1 hit
PF16484 CPT_N, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TCG5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEAHQAVGF RPSLTSDGAE VELSAPVLQE IYLSGLRSWK RHLSRFWNDF 
        60         70         80         90        100
LTGVFPASPL SWLFLFSAIQ LAWFLQLDPS LGLMEKIKEL LPDWGGQHHG 
       110        120        130        140        150
LRGVLAAALF ASCLWGALIF TLHVALRLLL SYHGWLLEPH GAMSSPTKTW 
       160        170        180        190        200
LALVRIFSGR HPMLFSYQRS LPRQPVPSVQ DTVRKYLESV RPILSDEDFD 
       210        220        230        240        250
WTAVLAQEFL RLQASLLQWY LRLKSWWASN YVSDWWEEFV YLRSRNPLMV 
       260        270        280        290        300
NSNYYMMDFL YVTPTPLQAA RAGNAVHALL LYRHRLNRQE IPPTLLMGMR 
       310        320        330        340        350
PLCSAQYEKI FNTTRIPGVQ KDYIRHLHDS QHVAVFHRGR FFRMGTHSRN 
       360        370        380        390        400
SLLSPRALEQ QFQRILDDPS PACPHEEHLA ALTAAPRGTW AQVRTSLKTQ 
       410        420        430        440        450
AAEALEAVEG AAFFVSLDAE PAGLTREDPA ASLDAYAHAL LAGRGHDRWF 
       460        470        480        490        500
DKSFTLIVFS NGKLGLSVEH SWADCPISGH MWEFTLATEC FQLGYSTDGH 
       510        520        530        540        550
CKGHPDPTLP QPQRLQWDLP DQIHSSISLA LRGAKILSEN VDCHVVPFSL 
       560        570        580        590        600
FGKSFIRRCH LSSDSFIQIA LQLAHFRDRG QFCLTYESAM TRLFLEGRTE 
       610        620        630        640        650
TVRSCTREAC NFVRAMEDKE KTDPQCLALF RVAVDKHQAL LKAAMSGQGV 
       660        670        680        690        700
DRHLFALYIV SRFLHLQSPF LTQVHSEQWQ LSTSQIPVQQ MHLFDVHNYP 
       710        720        730        740        750
DYVSSGGGFG PADDHGYGVS YIFMGDGMIT FHISSKKSST KTDSHRLGQH 
       760        770        780        790        800
IEDALLDVAS LFQAGQHFKR RFRGSGKENS RHRCGFLSRQ TGASKASMTS 

TDF
Length:803
Mass (Da):90,989
Last modified:June 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i96C2AE6ED0DEC705
GO
Isoform 2 (identifier: Q8TCG5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     258-268: Missing.

Note: No experimental confirmation available.
Show »
Length:792
Mass (Da):89,713
Checksum:i3420B3FE0457E895
GO
Isoform 3 (identifier: Q8TCG5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     623-711: Missing.

Note: No experimental confirmation available.
Show »
Length:714
Mass (Da):81,000
Checksum:i4435ECAA8502D6BA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QZ13M0QZ13_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C
257Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R115M0R115_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C
177Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R2H6M0R2H6_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C
336Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R2V3M0R2V3_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R1F9M0R1F9_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R0D3M0R0D3_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C hCG_2039825
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R399M0R399_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C hCG_2039825
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R2B9M0R2B9_HUMAN
Carnitine O-palmitoyltransferase 1,...
CPT1C
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB85068 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD38561 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti58S → G in BAF82402 (PubMed:14702039).Curated1
Sequence conflicti375 – 378HEEH → RTRG in CAD38561 (PubMed:17974005).Curated4
Sequence conflicti542D → G in BAB85068 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07343337R → C in SPG73; alters protein conformation; dominant negative mutation. 1 PublicationCorresponds to variant dbSNP:rs786204767EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_010677258 – 268Missing in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_012457623 – 711Missing in isoform 3. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF357970 mRNA Translation: AAL99615.1
AF331918 Genomic DNA Translation: AAQ14875.1
AK074389 mRNA Translation: BAB85068.1 Different initiation.
AK289713 mRNA Translation: BAF82402.1
AK290092 mRNA Translation: BAF82781.1
CH471177 Genomic DNA Translation: EAW52524.1
BC029104 mRNA Translation: AAH29104.1
AL831876 mRNA Translation: CAD38561.2 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12779.1 [Q8TCG5-1]
CCDS46147.1 [Q8TCG5-2]

NCBI Reference Sequences

More...RefSeqi		NP_001129524.1, NM_001136052.2 [Q8TCG5-2]
NP_001186681.1, NM_001199752.2 [Q8TCG5-1]
NP_001186682.1, NM_001199753.1 [Q8TCG5-1]
NP_689572.1, NM_152359.2 [Q8TCG5-1]
XP_005258562.1, XM_005258505.2 [Q8TCG5-1]
XP_005258563.1, XM_005258506.4 [Q8TCG5-1]
XP_011524740.1, XM_011526438.2
XP_011524741.1, XM_011526439.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.112195

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000323446; ENSP00000319343; ENSG00000169169 [Q8TCG5-1]
ENST00000392518; ENSP00000376303; ENSG00000169169 [Q8TCG5-1]
ENST00000405931; ENSP00000384465; ENSG00000169169 [Q8TCG5-2]
ENST00000598293; ENSP00000473028; ENSG00000169169 [Q8TCG5-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		126129

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:126129

UCSC genome browser

More...UCSCi		uc002ppj.4 human [Q8TCG5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF357970 mRNA Translation: AAL99615.1
AF331918 Genomic DNA Translation: AAQ14875.1
AK074389 mRNA Translation: BAB85068.1 Different initiation.
AK289713 mRNA Translation: BAF82402.1
AK290092 mRNA Translation: BAF82781.1
CH471177 Genomic DNA Translation: EAW52524.1
BC029104 mRNA Translation: AAH29104.1
AL831876 mRNA Translation: CAD38561.2 Different initiation.
CCDSiCCDS12779.1 [Q8TCG5-1]
CCDS46147.1 [Q8TCG5-2]
RefSeqiNP_001129524.1, NM_001136052.2 [Q8TCG5-2]
NP_001186681.1, NM_001199752.2 [Q8TCG5-1]
NP_001186682.1, NM_001199753.1 [Q8TCG5-1]
NP_689572.1, NM_152359.2 [Q8TCG5-1]
XP_005258562.1, XM_005258505.2 [Q8TCG5-1]
XP_005258563.1, XM_005258506.4 [Q8TCG5-1]
XP_011524740.1, XM_011526438.2
XP_011524741.1, XM_011526439.2
UniGeneiHs.112195

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M76NMR-A1-50[»]
ProteinModelPortaliQ8TCG5
SMRiQ8TCG5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000319343

PTM databases

iPTMnetiQ8TCG5
PhosphoSitePlusiQ8TCG5

Polymorphism and mutation databases

BioMutaiCPT1C
DMDMi57013809

Proteomic databases

jPOSTiQ8TCG5
PaxDbiQ8TCG5
PeptideAtlasiQ8TCG5
PRIDEiQ8TCG5
ProteomicsDBi74135
74136 [Q8TCG5-2]
74137 [Q8TCG5-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		126129
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323446; ENSP00000319343; ENSG00000169169 [Q8TCG5-1]
ENST00000392518; ENSP00000376303; ENSG00000169169 [Q8TCG5-1]
ENST00000405931; ENSP00000384465; ENSG00000169169 [Q8TCG5-2]
ENST00000598293; ENSP00000473028; ENSG00000169169 [Q8TCG5-1]
GeneIDi126129
KEGGihsa:126129
UCSCiuc002ppj.4 human [Q8TCG5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		126129
DisGeNETi126129
EuPathDBiHostDB:ENSG00000169169.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		CPT1C
HGNCiHGNC:18540 CPT1C
HPAiHPA014529
HPA063621
MalaCardsiCPT1C
MIMi608846 gene
616282 phenotype
neXtProtiNX_Q8TCG5
OpenTargetsiENSG00000169169
Orphaneti444099 Autosomal dominant spastic paraplegia type 73
PharmGKBiPA134922321

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3717 Eukaryota
ENOG410XNZ9 LUCA
GeneTreeiENSGT00940000153610
HOGENOMiHOG000233542
HOVERGENiHBG003458
InParanoidiQ8TCG5
KOiK19524
OMAiNIDCHVF
OrthoDBi559299at2759
PhylomeDBiQ8TCG5
TreeFamiTF313836

Enzyme and pathway databases

UniPathwayi
UPA00659

BioCyciMetaCyc:HS09892-MONOMER
BRENDAi2.3.1.21 2681
SIGNORiQ8TCG5

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CPT1C human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		126129

Protein Ontology

More...PROi		PR:Q8TCG5

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000169169 Expressed in 132 organ(s), highest expression level in cerebellar hemisphere
ExpressionAtlasiQ8TCG5 baseline and differential
GenevisibleiQ8TCG5 HS

Family and domain databases

InterProiView protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
IPR032476 CPT_N
PANTHERiPTHR22589 PTHR22589, 1 hit
PfamiView protein in Pfam
PF00755 Carn_acyltransf, 1 hit
PF16484 CPT_N, 1 hit
PROSITEiView protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCPT1C_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TCG5
Secondary accession number(s): A8K0Z8
, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TE84
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: June 1, 2002
Last modified: February 13, 2019
This is version 137 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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