ENSG00000169169


Homo sapiens

Features
Gene ID: ENSG00000169169
  
Biological name :CPT1C
  
Synonyms : carnitine palmitoyltransferase 1C / CPT1C / Q8TCG5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 49690898
Gene end: 49713731
  
Corresponding Affymetrix probe sets: 227468_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472828
Ensembl peptide - ENSP00000472742
Ensembl peptide - ENSP00000473028
Ensembl peptide - ENSP00000473082
Ensembl peptide - ENSP00000319343
Ensembl peptide - ENSP00000376303
Ensembl peptide - ENSP00000384465
Ensembl peptide - ENSP00000470221
Ensembl peptide - ENSP00000470739
Ensembl peptide - ENSP00000471160
Ensembl peptide - ENSP00000471579
Ensembl peptide - ENSP00000471841
Ensembl peptide - ENSP00000472453
Ensembl peptide - ENSP00000472579
NCBI entrez gene - 126129     See in Manteia.
OMIM - 608846
RefSeq - XM_017026273
RefSeq - NM_152359
RefSeq - XM_005258505
RefSeq - XM_005258506
RefSeq - XM_006723009
RefSeq - XM_011526438
RefSeq - XM_011526439
RefSeq - XM_011526440
RefSeq - XM_017026265
RefSeq - XM_017026266
RefSeq - XM_017026267
RefSeq - XM_017026268
RefSeq - XM_017026269
RefSeq - XM_017026270
RefSeq - XM_017026271
RefSeq - XM_017026272
RefSeq - NM_001136052
RefSeq - NM_001199752
RefSeq - NM_001199753
RefSeq Peptide - NP_001186682
RefSeq Peptide - NP_689572
RefSeq Peptide - NP_001129524
RefSeq Peptide - NP_001186681
swissprot - M0R1F9
swissprot - M0R2B9
swissprot - M0R2H6
swissprot - A0A024QZI3
swissprot - M0R399
swissprot - Q8TCG5
swissprot - A0A024QZE3
swissprot - M0R2V3
swissprot - M0QZ13
swissprot - M0R0D3
swissprot - M0R115
Ensembl - ENSG00000169169
  
Related genetic diseases (OMIM): 616282 - ?Spastic paraplegia 73, autosomal dominant, 616282
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cpt1bENSDARG00000058285Danio rerio
 Cpt1cENSMUSG00000007783Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CPT1A / P50416 / carnitine palmitoyltransferase 1AENSG0000011009053
CPT1B / Q92523 / carnitine palmitoyltransferase 1BENSG0000020556051
CHAT / P28329 / choline O-acetyltransferaseENSG0000007074824
CRAT / P43155 / carnitine O-acetyltransferaseENSG0000009532123
CROT / Q9UKG9 / carnitine O-octanoyltransferaseENSG0000000546921


Protein motifs (from Interpro)
Interpro ID Name
 IPR000542  Acyltransferase ChoActase/COT/CPT
 IPR032476  Carnitine O-palmitoyltransferase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006635 fatty acid beta-oxidation IEA
 biological_processGO:0009437 carnitine metabolic process IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0032281 AMPA glutamate receptor complex IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0004095 carnitine O-palmitoyltransferase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000012 Urinary urgency 
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 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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 HP:0001258 Spastic paraplegia 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001760 Abnormality of the feet "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators]
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 HP:0002064 Spastic gait 
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 HP:0002166 Decreased vibratory sense in the lower limbs "A decrease in the ability to perceive vibration in the legs." [HPO:curators]
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 HP:0002314 Degeneration of the lateral corticospinal tracts 
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 HP:0002355 Difficulty walking 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0003677 Slow progression 
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 HP:0003701 Proximal muscle weakness "A lack of strength of the proximal muscles." [HPO:curators]
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 HP:0007020 Progressive spastic paraplegia 
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 HP:0007199 Progressive spastic paraparesis 
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 HP:0008075 Progressive pes cavus 
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 HP:0008944 Distal lower limb muscle weakness and atrophy "Amyotrophy of distal lower leg muscles with resultant weakness." [HPO:curators]
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 HP:0009053 Muscle weakness, lower limb, distal "Weakness of the distal muscles of the legs." [HPO:curators]
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 HP:0012898 Abnormal lower-limb motor evoked potentials "An anomaly identified by motor evoked potentials (MEPs) in the leg." [UToronto:htrang]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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