CPT1C Gene (Protein Coding)

Carnitine Palmitoyltransferase 1C

GCID:: GC19P049690

GIFtS:: 42

Genes Participants

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 t... See more...

Aliases for CPT1C Gene

Carnitine Palmitoyltransferase 1C ² ³ ⁴ ⁵
Carnitine O-Palmitoyltransferase 1, Brain Isoform ³ ⁴
Carnitine O-Palmitoyltransferase I, Brain Isoform ³ ⁴
EC 2.3.1.21 ⁴ ⁵¹
CPT1-B ³ ⁴
CPTI-B ³ ⁴
CATL1 ³ ⁴

CPT1P ² ³
CPTIC ² ³
Carnitine Palmitoyltransferase I Related C ³
FLJ23809 ²
CPT IC ⁴
SPG73 ³
CPT1C ⁵

External Ids for CPT1C Gene

HGNC: 18540
Entrez Gene: 126129
Ensembl: ENSG00000169169
OMIM: 608846
UniProtKB: Q8TCG5

Previous GeneCards Identifiers for CPT1C Gene

GC19P050852
GC19P050562
GC19P054870
GC19P054886
GC19P050195
GC19P046571
GC19P050199
GC19P050207

Search aliases for CPT1C gene in PubMed and other databases

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. Diseases associated with CPT1C include Spastic Paraplegia 73, Autosomal Dominant and Paraplegia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and FOXA2 and FOXA3 transcription factor networks. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1A.

UniProtKB/Swiss-Prot Summary for CPT1C Gene

May play a role in lipid metabolic process.
- CPT1C_HUMAN,Q8TCG5

Additional gene information for CPT1C Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPT1C Gene

Genomics for CPT1C Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Request up-to-date GeneHancer data

Promoters and enhancers for CPT1C Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH19J049686	Promoter/Enhancer	1.9	EPDnew Ensembl ENCODE CraniofacialAtlas	615.9	-0.9	-893	5.6	CTCF PRDM10 KDM1A POLR2A RBFOX2 PATZ1 NR2C1 ZNF501 GABPA ZNF341	CPT1C AB372690 ADM5 ENSG00000268677 HSALNG0127023 NONHSAG026259.2 PRMT1
GH19J048958	Promoter/Enhancer	2.8	EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER	21.2	-726.6	-726643	10.2	SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 TFE3 RFX1	FTL ENSG00000267898 NONHSAG026207.2 PRR12 NUP62 PTOV1-AS2 PIH1D1 IRF3 SNORD35A SNORD35B
GH19J049849	Promoter/Enhancer	2.1	EPDnew Ensembl ENCODE CraniofacialAtlas	26.1	+160.7	160693	4.1	ZNF221 BRCA1 SP1 CREB1 GATAD2A HNRNPL ZNF629 PRDM10 TFE3 SIX5	PTOV1 PTOV1-AS1 piR-32464 piR-42656 PRR12 IRF3 SNRNP70 PIH1D1 SNORD35A CPT1C
GH19J049494	Promoter/Enhancer	2.7	EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER	15.1	-191.6	-191628	9.7	BRCA1 ARHGAP35 SP1 CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 TFE3	RPS11 SNORD35B MIR150 PRR12 RPL13A SNRNP70 PIH1D1 ALDH16A1 CPT1C CD37
GH19J050329	Promoter/Enhancer	2.7	EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER	15.1	+640.3	640329	7.2	RNF2 ARHGAP35 SP1 CREB1 ATF7 TEAD4 PRDM10 ZNF629 REST TFE3	KCNC3 NR1H2 LOC105372437 lnc-POLD1-3 NUP62 PRR12 POLD1 ENSG00000268047 PTOV1-AS2 SNORD35A

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPT1C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPT1C

Top Transcription factor binding sites by QIAGEN in the CPT1C gene promoter:

AP-1
ATF-2
HNF-4alpha1
p53

Genomic Locations for CPT1C Gene

chr19:49,690,672-49,713,731: (GRCh38/hg38)

Size:: 23,060 bases
Orientation:: Plus strand

chr19:50,194,155-50,216,988: (GRCh37/hg19)

Size:: 22,834 bases
Orientation:: Plus strand

Genomic View for CPT1C Gene

Genes around CPT1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

19q13.33 by HGNC
19q13.33 by Entrez Gene
19q13.33 by Ensembl

CPT1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)

Genomic Location for CPT1C Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CPT1C Gene

NC_000019.10

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). Interacts with ATL1 (PubMed:25751282).
SequenceCaution:
Sequence=BAB85068.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD38561.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for CPT1C Gene
- 2M76 (3D)
Alternative splice isoforms for CPT1C Gene
UniProtKB/Swiss-Prot:
Q8TCG5-1

Q8TCG5-2

Q8TCG5-3

neXtProt entry for CPT1C Gene

Protein Expression for CPT1C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CPT1C Gene

Q8TCG5:

DRHLFAL
NYVSDWWEE
RWFDKSF
YLESVRP
FNTTRIPG

Post-translational modifications for CPT1C Gene

Modification sites at PhosphoSitePlus
- Q8TCG5
Modification sites at neXtProt
- NX_Q8TCG5

Other Protein References for CPT1C Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibody Products

LifeSpan BioSciences CPT1C Antibody (LS-B8301) and CPT1C Antibody (LS-B10201)

G Biosciences Immunotag™ CPT1C-specific Antibody

NSJ Bioreagents CPT1C Antibody

OriGene Antibodies for CPT1C
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Novus Biologicals Antibodies for CPT1C

Abcam antibodies for CPT1C
- Cpt1c

Invitrogen Antibodies for CPT1C (AFLGC-CPT1C)

Biorbyt antibodies for CPT1C
- orb20214
- orb51970
- orb394915
- orb539008
- orb29427

Boster Bio Antibodies for CPT1C
- A06988

Santa Cruz Biotechnology (SCBT) Antibodies for CPT1C
- CPT1-C (B-1)

Browse Sino Biological Antibodies

Protein Products

OriGene Purified Proteins for CPT1C
- NM_152359
- NM_152359
- NM_152359
- NM_152359
- NM_153679
Search Origene for MassSpec and Protein Over-expression Lysates for CPT1C
Origene Custom Protein Services for CPT1C

Novus Biologicals proteins and lysates for CPT1C

Browse ProSpec Recombinant Proteins

antibodies-online: Show 7 available CPT1C Proteins ranked by validation data
Compare Top CPT1C Proteins

Search for CPT1C Proteins at ProSci

Abcam proteins for CPT1C
- Cpt1c

Assay Products

antibodies-online: Search results for available CPT1C related products ranked by validation data

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Domains & Families for CPT1C Gene

Gene Families for CPT1C Gene

Human Protein Atlas (HPA):

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Protein Domains for CPT1C Gene

InterPro:

Blocks:

Acyltransferase ChoActase/COT/CPT

ProtoNet:

Q8TCG5

Suggested Antigen Peptide Sequences for CPT1C Gene

GenScript: Design optimal peptide antigens:

cDNA FLJ39197 fis, clone OCBBF2005077, highly similar to Carnitine O-palmitoyltransferase I, brain isoform (EC 2.3.1.21) (B3KU49_HUMAN)
Carnitine palmitoyltransferase 1C (CPT1C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TCG5

UniProtKB/Swiss-Prot:

CPT1C_HUMAN :

Belongs to the carnitine/choline acetyltransferase family.

Family:

Belongs to the carnitine/choline acetyltransferase family.

Function for CPT1C Gene

Molecular function for CPT1C Gene

UniProtKB/Swiss-Prot Function:

May play a role in lipid metabolic process.

CPT1C_HUMAN,Q8TCG5

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=(R)-carnitine + hexadecanoyl-CoA = CoA + O-hexadecanoyl-(R)-carnitine; Xref=Rhea:RHEA:12661, ChEBI:CHEBI:16347, ChEBI:CHEBI:17490, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379; EC=2.3.1.21;.

CPT1C_HUMAN,Q8TCG5

Enzyme Numbers (IUBMB) for CPT1C Gene

EC 2.3.1.21 ⁵¹ ⁴

Phenotypes From GWAS Catalog 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	IBA	21873635
GO:0005515	protein binding	IPI	25751282
GO:0016740	transferase activity	IEA	--
GO:0016746	transferase activity, transferring acyl groups	IEA	--

Phenotypes for CPT1C Gene

MGI mutant phenotypes for CPT1C:

inferred from 5 alleles

GenomeRNAi human phenotypes for CPT1C:

Human Phenotype Ontology for CPT1C Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for CPT1C Gene

MGI Knock Outs for CPT1C:

Cpt1c ^{Cpt1c<tm1b(EUCOMM)Wtsi>}
Cpt1c ^{Cpt1c<tm1Fghe>}
Cpt1c ^{Cpt1c<tm1Dhwu>}
Cpt1c ^{Cpt1c<tm1Mdln>}

Animal Model Products

Taconic Biosciences Mouse Models for CPT1C
- Cpt1c

CRISPR Products

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OriGene CRISPR knockouts for CPT1C
- GA114918
- GA210875
- KN413007
- KN503785

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CPT1C

Santa Cruz Biotechnology (SCBT) CRISPR for CPT1C

miRNA for CPT1C Gene

miRTarBase miRNAs that target CPT1C

hsa-miR-615-3p (MIRT040222)

miRNA Products

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Inhibitory RNA Products

Origene shrna, sirna, and RNAi products in human, mouse, rat for CPT1C
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Search Santa Cruz Biotechnology (SCBT) for CPT1C siRNA/shRNA

Clone Products

Applied Biological Materials (abm): Clones for CPT1C - Select products 50% OFF >
* CPT1C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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OriGene clones in human,mouse,rat for CPT1C
- SC201482
- SC201543
- MC201927
- MC228953
- RN202986
- SC100388
- SC325333
- SC331353
- SC331354
OriGene ORF clones in human,mouse,rat for CPT1C
- MG210716
- MR210716
- MR210716L3
- MR210716L4
- MR231164
- RC213007
- RC213007L1
- RC213007L2
- RC213007L3
- RC213007L4
- RC226726
- RC226726L3
- RC226726L4
- RC234901
- RC234902
- RG213007
- RG226726
- RG234901
- RG234902
- RR202986
- RR202986L3
- RR202986L4
- MR210716L3V
- MR210716L4V
- RC213007L1V
- RC213007L2V
- RC213007L3V
- RC213007L4V
- RC226726L3V
- RC226726L4V
- RR202986L3V
- RR202986L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for CPT1C

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Cell Line Products

Browse ESI BIO Cell Lines and PureStem Progenitors for CPT1C

Browse GeneCopoeia Cell Lines

VectorBuilder Stable cell line generation for CPT1C

Horizon Cell Lines for CPT1C
- CPT1C knockout cell line

No data available for Transcription Factor Targets 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. Cell projection, dendrite. Cell projection, axon. Endoplasmic reticulum. Note=Localized in the soma and dendritic and axonal projections. {ECO:0000269 PubMed:25751282}.

Q8TCG5-CPT1C_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
mitochondrion	4
endoplasmic reticulum	4
plasma membrane	3
peroxisome	3
extracellular	2
cytoskeleton	2
nucleus	2
cytosol	2
endosome	1
lysosome	1
golgi apparatus	1

Subcellular locations from the

Human Protein Atlas (HPA)

Centrosome (2)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for CPT1C Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IBA	21873635
GO:0005741	mitochondrial outer membrane	IEA	--
GO:0005783	endoplasmic reticulum	ISS	--
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016020	membrane	IEA	--

Pathways & Interactions for CPT1C Gene

SuperPathways for CPT1C Gene

	SuperPathway	Contained pathways
1	AMP-activated Protein Kinase (AMPK) Signaling	AMPK signaling pathway .40	AMP-activated Protein Kinase (AMPK) Signaling .40
2	Fatty Acyl-CoA Biosynthesis	Fatty acid metabolism .37	Fatty acid degradation .36
3	AMPK Enzyme Complex Pathway	mitochondrial L-carnitine shuttle .01	AMPK Enzyme Complex Pathway -
4	Adipocytokine signaling pathway	Adipocytokine signaling pathway -
5	Glucagon signaling pathway	Glucagon signaling pathway -

Pathways by source for CPT1C Gene

3 BioSystems pathways for CPT1C Gene

7 KEGG pathways for CPT1C Gene

1 Qiagen pathway for CPT1C Gene

AMPK Enzyme Complex Pathway

UniProtKB/Swiss-Prot Q8TCG5-CPT1C_HUMAN

Pathway: Lipid metabolism; fatty acid beta-oxidation.

Interacting Proteins for CPT1C Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)

Selected Interacting proteins: ENSP00000376303 Q8TCG5-CPT1C_HUMAN for CPT1C Gene via STRING IID

Symbol	External ID(s)	Details
ACACB	ENSP00000341044 ²¹ O00763 ¹²⁶	STRING: ENSP00000341044 IID: # pred=1
ACSL1	ENSP00000422607 ²¹ P33121 ¹²⁶	STRING: ENSP00000422607 IID: # pred=1
ACSL4	ENSP00000339787 ²¹ O60488 ¹²⁶	STRING: ENSP00000339787 IID: # pred=1
CRAT	ENSP00000315013 ²¹ P43155 ¹²⁶	STRING: ENSP00000315013 IID: # pred=1
ABHD12	ENSP00000365725 ²¹	STRING: ENSP00000365725

GPS-Prot Interaction Network for CPT1C

SIGNOR curated interactions for CPT1C Gene

Is activated by:

PRKAA1

Gene Ontology (GO) - Biological Process for CPT1C Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	IEA	--
GO:0006631	fatty acid metabolic process	IBA	21873635
GO:0006635	fatty acid beta-oxidation	IEA	--
GO:0009437	carnitine metabolic process	IBA	21873635
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA	--

Drugs & Compounds for CPT1C Gene

(2) Drugs for CPT1C Gene - From: HMDB

Name	Status	Disease Links	Group	Role	Mechanism of Action	Clinical Trials
L-Carnitine	Approved, Investigational	MalaCards Medline Plus	Pharma			0
Coenzyme A	Investigational	MalaCards Medline Plus	Nutra			0

(3) Additional Compounds for CPT1C Gene - From: HMDB

Name	Synonyms	CAS Number	PubChem IDs	PubMed IDs
hexadecanoyl-CoA	coenzyme A, S-Hexadecanoate Palmitoyl coenzyme A S-Palmitoylcoenzyme A coenzyme A, S-Hexadecanoic acid	MalaCards Medline Plus		644109
L-Palmitoylcarnitine	(3R)-3-(Hexadecanoyloxy)-4-(trimethylazaniumyl)butanoate (3R)-3-Palmitoyloxy-4-(trimethylammonio)butanoate Hexadecanoyl-L-carnitine Hexadecanoylcarnitine Hexadecenoyl carnitine	MalaCards Medline Plus	2364-67-2	11953816
Palmityl-CoA	Hexadecanoyl CoA Hexadecanoyl coenzyme A Palmitoyl CoA Palmitoyl coenzyme A Palmitoyl-CoA	MalaCards Medline Plus	1763-10-6	15667

Drug Products

Browse Tocris compounds for CPT1C

Browse compounds at ApexBio

Transcripts for CPT1C Gene

mRNA/cDNA for CPT1C Gene

11 REFSEQ mRNAs :

12 NCBI additional mRNA sequence :

24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

ENST00000594038 503 nts (view in UCSC)
ENST00000323446 2783 nts (view in UCSC)
ENST00000598259 2679 nts (view in UCSC)
ENST00000599023 2518 nts (view in UCSC)
ENST00000392518 2910 nts (view in UCSC)

CRISPR Products

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* CPT1C CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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OriGene CRISPR knockouts for CPT1C
- GA114918
- GA210875
- KN413007
- KN503785

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CPT1C

Santa Cruz Biotechnology (SCBT) CRISPR for CPT1C

miRNA Products

Search GeneCopoeia for miRNA 3'UTR Target clone products for CPT1C

Browse OriGene miRNA Products For CPT1C

Inhibitory RNA Products

Origene shrna, sirna, and RNAi products in human, mouse, rat for CPT1C
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Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPT1C

Search Santa Cruz Biotechnology (SCBT) for CPT1C siRNA/shRNA

Clone Products

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OriGene clones in human,mouse,rat for CPT1C
- SC201482
- SC201543
- MC201927
- MC228953
- RN202986
- SC100388
- SC325333
- SC331353
- SC331354
OriGene ORF clones in human,mouse,rat for CPT1C
- MG210716
- MR210716
- MR210716L3
- MR210716L4
- MR231164
- RC213007
- RC213007L1
- RC213007L2
- RC213007L3
- RC213007L4
- RC226726
- RC226726L3
- RC226726L4
- RC234901
- RC234902
- RG213007
- RG226726
- RG234901
- RG234902
- RR202986
- RR202986L3
- RR202986L4
- MR210716L3V
- MR210716L4V
- RC213007L1V
- RC213007L2V
- RC213007L3V
- RC213007L4V
- RC226726L3V
- RC226726L4V
- RR202986L3V
- RR202986L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for CPT1C

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Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CPT1C

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

Expression for CPT1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CPT1C Gene

mRNA expression in normal human tissues for CPT1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Kidney (Urinary System)
- Cortical Stroma Cells Interstitial Stroma
- Interstitial Stroma
Brain (Nervous System)
- Cerebral Cortex
Neural Tube (Nervous System)
- Telencephalon
Inner Cell Mass (Early Embryonic Tissues)
- Induced pluripotent stem cell line 1

Protein differential expression in normal tissues from HIPED for CPT1C Gene

This gene is overexpressed in Breast (33.5), Retina (16.9), and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CPT1C Gene

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

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for CPT1C Gene

Protein tissue co-expression partners for CPT1C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPT1C

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. Expressed in motor neurons.

Evidence on tissue expression from TISSUES for CPT1C Gene

Nervous system(4.8)
Kidney(4.3)
Eye(4.3)
Muscle(3.1)
Heart(2.7)
Liver(2.6)
Skin(2.1)
Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CPT1C Gene

Germ Layers:

ectoderm
mesoderm

Systems:

nervous
skeletal muscle

Regions:

Head and neck:

brain
head

Limb:

foot
lower limb
upper limb

General:

peripheral nerve
peripheral nervous system
spinal cord

Primer Products

OriGene qPCR primer pairs for CPT1C
- HP217638
- MP201756
OriGene qPCR primer pairs and template standards for CPT1C
- MK201487

Gene Expression Assay Products

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for CPT1C

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 ³¹	100 (a)	OneToOne	19:54694624-54718032
Dog (Canis familiaris)	Mammalia	CPT1C ³⁰ ³¹	87.96 (n)	OneToOne	100856778 XM_003638816.2 XP_003638864.1 1:106824622-106845850
Cow (Bos Taurus)	Mammalia	CPT1C ³⁰ ³¹	87.7 (n)	OneToOne	513710 XM_002695120.2 XP_002695166.1 18:56547752-56566692
Mouse (Mus musculus)	Mammalia	Cpt1c ³⁰ ¹⁷ ³¹	81.7 (n)	OneToOne	78070 NM_153679.2 NP_710146.1 44959372 7:44959373-44974851
Rat (Rattus norvegicus)	Mammalia	Cpt1c ³⁰	81.27 (n)		308579 NM_001034925.2 NP_001030097.2
Oppossum (Monodelphis domestica)	Mammalia	CPT1C ³¹	55 (a)	OneToOne	4:412902938-412906366
Platypus (Ornithorhynchus anatinus)	Mammalia	-- ³¹	44 (a)	ManyToMany	Contig7034:324-7091
Lizard (Anolis carolinensis)	Reptilia	-- ³¹	57 (a)	ManyToMany	6:80273467-80296806
Zebrafish (Danio rerio)	Actinopterygii	zgc:112484 ³¹	53 (a)	ManyToMany	3:32362282-32427072
Fruit Fly (Drosophila melanogaster)	Insecta	whd ³¹	43 (a)	OneToMany	2R:6356978-6366073
Worm (Caenorhabditis elegans)	Secernentea	cpt-1 ³¹	41 (a)	OneToMany	II:12787830-12796452
Sea Squirt (Ciona savignyi)	Ascidiacea	-- ³¹	44 (a)	OneToMany	reftig_238:70783-98510

Species where no ortholog for CPT1C was found in the sources mined by GeneCards:

A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
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)
Aminode:: Evolutionary constrained regions (ECRs) for CPT1C: view image

Paralogs for CPT1C Gene

CPT1A ⁵
CPT1B ⁵
CRAT ⁵
CHAT ⁵
CPT2 ⁵
CROT ⁵

(3) SIMAP similar genes for CPT1C Gene using alignment to 10 proteins:

CPT1C_HUMAN
B3KU49_HUMAN
M0QZ13_HUMAN
M0R0D3_HUMAN
M0R115_HUMAN
M0R1F9_HUMAN
M0R2B9_HUMAN
M0R2H6_HUMAN
M0R2V3_HUMAN
M0R399_HUMAN

Variants for CPT1C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPT1C Gene

SNP ID	Clinical significance and condition	Chr 19 pos	Variation	Type
640926	Uncertain Significance: Spastic paraplegia 73, autosomal dominant	49,697,380(+)	T/G	MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
645918	Uncertain Significance: Spastic paraplegia 73, autosomal dominant	49,700,774(+)	G/A	NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
657869	Uncertain Significance: Spastic paraplegia 73, autosomal dominant	49,706,086(+)	C/T	MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
662312	Uncertain Significance: Spastic paraplegia 73, autosomal dominant	49,692,307(+)	G/A	MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
702226	Likely Benign: Spastic paraplegia 73, autosomal dominant	49,706,366(+)	G/A	NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CPT1C Gene

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

Variant ID	Type	Subtype	PubMed ID
dgv1796n106	CNV	deletion	24896259
esv1209349	CNV	insertion	17803354
esv1580543	CNV	insertion	17803354
nsv1148469	CNV	insertion	26484159
nsv1160655	CNV	deletion	26073780
nsv469715	CNV	gain+loss	16826518
nsv470150	CNV	gain	18288195
nsv7308	OTHER	inversion	18451855
nsv817854	CNV	gain	17921354
nsv833864	CNV	gain	17160897
nsv833865	CNV	gain+loss	17160897
nsv953600	CNV	deletion	24416366
nsv9739	CNV	gain+loss	18304495

Variation tolerance for CPT1C Gene

Residual Variation Intolerance Score: 4.89% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 2.18; 39.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPT1C Gene

Human Gene Mutation Database (HGMD): CPT1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for: CPT1C

SNP Genotyping and Copy Number Assay Products

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for CPT1C

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

Disorders for CPT1C Gene

(6) MalaCards diseases for CPT1C Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder	Aliases	PubMed IDs
spastic paraplegia 73, autosomal dominant	spg73	25751282
paraplegia	paraplegia, lower
monieziasis
carnitine palmitoyltransferase i deficiency	carnitine palmitoyltransferase ia deficiency
carnitine palmitoyltransferase ii deficiency, infantile	carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia

- elite association - COSMIC cancer census association via MalaCards

Search CPT1C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CPT1C_HUMAN

Spastic paraplegia 73, autosomal dominant (SPG73) [MIM:616282]: A 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. {ECO:0000269 PubMed:25751282}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CPT1C

Genetic Association Database: (GAD)
Human Genome Epidemiology Navigator: (HuGE)
: ATLAS of Genetics and Cytogenetics in Oncology and Haematology
: Open Targets Platform

Search disorders for CPT1C gene in PubMed and other databases

No data available for Genatlas for CPT1C Gene

Publications for CPT1C Gene

A novel brain-expressed protein related to carnitine palmitoyltransferase I. (PMID: 12376098) Price N … Zammit V (Genomics 2002) ² ³ ⁴
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. (PMID: 25751282) Rinaldi C … Fischbeck KH (JAMA neurology 2015) ³ 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 SD … DREAM investigators (Diabetes care 2010) ³ ⁴¹
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) ³ ⁴¹
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) ³ ⁴