UniProtKB - Q8TCG5 (CPT1C_HUMAN)
Protein
Carnitine O-palmitoyltransferase 1, brain isoform
Gene
CPT1C
Organism
Homo sapiens (Human)
Status
Functioni
May play a role in lipid metabolic process.1 Publication
Catalytic activityi
- EC:2.3.1.21
: fatty acid beta-oxidation Pathwayi
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 470 | Proton acceptorBy similarity | 1 | |
Binding sitei | 586 | CarnitineBy similarity | 1 | |
Binding sitei | 588 | CarnitineBy similarity | 1 | |
Binding sitei | 599 | CarnitineBy similarity | 1 |
GO - Molecular functioni
- carnitine O-palmitoyltransferase activity Source: GO_Central
GO - Biological processi
- carnitine metabolic process Source: GO_Central
- fatty acid beta-oxidation Source: UniProtKB-UniPathway
- long-chain fatty acid transport Source: GO_Central
- regulation of postsynaptic membrane neurotransmitter receptor levels Source: Ensembl
Keywordsi
Molecular function | Acyltransferase, Transferase |
Biological process | Fatty acid metabolism, Lipid metabolism |
Enzyme and pathway databases
BioCyci | MetaCyc:HS09892-MONOMER |
BRENDAi | 2.3.1.21 2681 |
SIGNORi | Q8TCG5 |
UniPathwayi | UPA00659 |
Names & Taxonomyi
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 |
Gene namesi | Name:CPT1C Synonyms:CATL1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000169169.14 |
HGNCi | HGNC:18540 CPT1C |
MIMi | 608846 gene |
neXtProti | NX_Q8TCG5 |
Subcellular locationi
Mitochondrion
- Mitochondrion outer membrane By similarity; Multi-pass membrane protein By similarity
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Other locations
Note: Localized in the soma and dendritic and axonal projections.1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- integral component of endoplasmic reticulum membrane Source: Ensembl
Mitochondrion
- mitochondrial outer membrane Source: UniProtKB-SubCell
- mitochondrion Source: GO_Central
Plasma Membrane
- AMPA glutamate receptor complex Source: Ensembl
Other locations
- axon Source: UniProtKB
- cell junction Source: UniProtKB-KW
- dendrite Source: UniProtKB
- glutamatergic synapse Source: Ensembl
- postsynapse Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 52 | CytoplasmicSequence analysisAdd BLAST | 52 | |
Transmembranei | 53 – 75 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 76 – 103 | Mitochondrial intermembraneSequence analysisAdd BLAST | 28 | |
Transmembranei | 104 – 126 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 127 – 803 | CytoplasmicSequence analysisAdd BLAST | 677 |
Keywords - Cellular componenti
Cell junction, Cell projection, Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion outer membrane, SynapsePathology & Biotechi
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:616282Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073433 | 37 | R → C in SPG73; alters protein conformation; dominant negative mutation. 1 PublicationCorresponds to variant dbSNP:rs786204767EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 126129 |
MalaCardsi | CPT1C |
MIMi | 616282 phenotype |
OpenTargetsi | ENSG00000169169 |
Orphaneti | 444099 Autosomal dominant spastic paraplegia type 73 |
PharmGKBi | PA134922321 |
Polymorphism and mutation databases
BioMutai | CPT1C |
DMDMi | 57013809 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000210166 | 1 – 803 | Carnitine O-palmitoyltransferase 1, brain isoformAdd BLAST | 803 |
Proteomic databases
jPOSTi | Q8TCG5 |
PaxDbi | Q8TCG5 |
PeptideAtlasi | Q8TCG5 |
PRIDEi | Q8TCG5 |
ProteomicsDBi | 74135 74136 [Q8TCG5-2] 74137 [Q8TCG5-3] |
PTM databases
iPTMneti | Q8TCG5 |
PhosphoSitePlusi | Q8TCG5 |
Expressioni
Tissue specificityi
Expressed predominantly in brain and testis. Expressed in motor neurons.2 Publications
Gene expression databases
Bgeei | ENSG00000169169 Expressed in 132 organ(s), highest expression level in cerebellar hemisphere |
ExpressionAtlasi | Q8TCG5 baseline and differential |
Genevisiblei | Q8TCG5 HS |
Organism-specific databases
HPAi | HPA014529 HPA063621 |
Interactioni
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
STRINGi | 9606.ENSP00000319343 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2M76 | NMR | - | A | 1-50 | [»] | |
ProteinModelPortali | Q8TCG5 | |||||
SMRi | Q8TCG5 | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 552 – 564 | Coenzyme A bindingBy similarityAdd BLAST | 13 |
Sequence similaritiesi
Belongs to the carnitine/choline acetyltransferase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3717 Eukaryota ENOG410XNZ9 LUCA |
GeneTreei | ENSGT00940000153610 |
HOGENOMi | HOG000233542 |
HOVERGENi | HBG003458 |
InParanoidi | Q8TCG5 |
KOi | K19524 |
OMAi | NIDCHVF |
OrthoDBi | 559299at2759 |
PhylomeDBi | Q8TCG5 |
TreeFami | TF313836 |
Family and domain databases
InterProi | View protein in InterPro IPR000542 Carn_acyl_trans IPR039551 Cho/carn_acyl_trans IPR032476 CPT_N |
PANTHERi | PTHR22589 PTHR22589, 1 hit |
Pfami | View protein in Pfam PF00755 Carn_acyltransf, 1 hit PF16484 CPT_N, 1 hit |
PROSITEi | View protein in PROSITE PS00439 ACYLTRANSF_C_1, 1 hit PS00440 ACYLTRANSF_C_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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.
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0QZ13 | M0QZ13_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C | 257 | Annotation score: | ||
M0R115 | M0R115_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C | 177 | Annotation score: | ||
M0R2H6 | M0R2H6_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C | 336 | Annotation score: | ||
M0R2V3 | M0R2V3_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C | 95 | Annotation score: | ||
M0R1F9 | M0R1F9_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C | 81 | Annotation score: | ||
M0R0D3 | M0R0D3_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C hCG_2039825 | 68 | Annotation score: | ||
M0R399 | M0R399_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C hCG_2039825 | 72 | Annotation score: | ||
M0R2B9 | M0R2B9_HUMAN | Carnitine O-palmitoyltransferase 1,... | CPT1C | 130 | Annotation score: |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 58 | S → G in BAF82402 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 375 – 378 | HEEH → RTRG in CAD38561 (PubMed:17974005).Curated | 4 | |
Sequence conflicti | 542 | D → G in BAB85068 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073433 | 37 | R → C in SPG73; alters protein conformation; dominant negative mutation. 1 PublicationCorresponds to variant dbSNP:rs786204767EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010677 | 258 – 268 | Missing in isoform 2. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_012457 | 623 – 711 | Missing in isoform 3. 1 PublicationAdd BLAST | 89 |
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. |
CCDSi | CCDS12779.1 [Q8TCG5-1] CCDS46147.1 [Q8TCG5-2] |
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 |
UniGenei | Hs.112195 |
Genome annotation databases
Ensembli | ENST00000323446; ENSP00000319343; ENSG00000169169 [Q8TCG5-1] ENST00000392518; ENSP00000376303; ENSG00000169169 [Q8TCG5-1] ENST00000405931; ENSP00000384465; ENSG00000169169 [Q8TCG5-2] ENST00000598293; ENSP00000473028; ENSG00000169169 [Q8TCG5-1] |
GeneIDi | 126129 |
KEGGi | hsa:126129 |
UCSCi | uc002ppj.4 human [Q8TCG5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS12779.1 [Q8TCG5-1] CCDS46147.1 [Q8TCG5-2] |
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 |
UniGenei | Hs.112195 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2M76 | NMR | - | A | 1-50 | [»] | |
ProteinModelPortali | Q8TCG5 | |||||
SMRi | Q8TCG5 | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Protein-protein interaction databases
STRINGi | 9606.ENSP00000319343 |
PTM databases
iPTMneti | Q8TCG5 |
PhosphoSitePlusi | Q8TCG5 |
Polymorphism and mutation databases
BioMutai | CPT1C |
DMDMi | 57013809 |
Proteomic databases
jPOSTi | Q8TCG5 |
PaxDbi | Q8TCG5 |
PeptideAtlasi | Q8TCG5 |
PRIDEi | Q8TCG5 |
ProteomicsDBi | 74135 74136 [Q8TCG5-2] 74137 [Q8TCG5-3] |
Protocols and materials databases
DNASUi | 126129 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000323446; ENSP00000319343; ENSG00000169169 [Q8TCG5-1] ENST00000392518; ENSP00000376303; ENSG00000169169 [Q8TCG5-1] ENST00000405931; ENSP00000384465; ENSG00000169169 [Q8TCG5-2] ENST00000598293; ENSP00000473028; ENSG00000169169 [Q8TCG5-1] |
GeneIDi | 126129 |
KEGGi | hsa:126129 |
UCSCi | uc002ppj.4 human [Q8TCG5-1] |
Organism-specific databases
CTDi | 126129 |
DisGeNETi | 126129 |
EuPathDBi | HostDB:ENSG00000169169.14 |
GeneCardsi | CPT1C |
HGNCi | HGNC:18540 CPT1C |
HPAi | HPA014529 HPA063621 |
MalaCardsi | CPT1C |
MIMi | 608846 gene 616282 phenotype |
neXtProti | NX_Q8TCG5 |
OpenTargetsi | ENSG00000169169 |
Orphaneti | 444099 Autosomal dominant spastic paraplegia type 73 |
PharmGKBi | PA134922321 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3717 Eukaryota ENOG410XNZ9 LUCA |
GeneTreei | ENSGT00940000153610 |
HOGENOMi | HOG000233542 |
HOVERGENi | HBG003458 |
InParanoidi | Q8TCG5 |
KOi | K19524 |
OMAi | NIDCHVF |
OrthoDBi | 559299at2759 |
PhylomeDBi | Q8TCG5 |
TreeFami | TF313836 |
Enzyme and pathway databases
UniPathwayi | UPA00659 |
BioCyci | MetaCyc:HS09892-MONOMER |
BRENDAi | 2.3.1.21 2681 |
SIGNORi | Q8TCG5 |
Miscellaneous databases
ChiTaRSi | CPT1C human |
GenomeRNAii | 126129 |
PROi | PR:Q8TCG5 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000169169 Expressed in 132 organ(s), highest expression level in cerebellar hemisphere |
ExpressionAtlasi | Q8TCG5 baseline and differential |
Genevisiblei | Q8TCG5 HS |
Family and domain databases
InterProi | View protein in InterPro IPR000542 Carn_acyl_trans IPR039551 Cho/carn_acyl_trans IPR032476 CPT_N |
PANTHERi | PTHR22589 PTHR22589, 1 hit |
Pfami | View protein in Pfam PF00755 Carn_acyltransf, 1 hit PF16484 CPT_N, 1 hit |
PROSITEi | View protein in PROSITE PS00439 ACYLTRANSF_C_1, 1 hit PS00440 ACYLTRANSF_C_2, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | CPT1C_HUMAN | |
Accessioni | Q8TCG5Primary (citable) accession number: Q8TCG5 Secondary accession number(s): A8K0Z8 Q8TE84 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - PATHWAY comments
Index of metabolic and biosynthesis pathways