Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | CPT1A | contributors: mct - updated : 28-01-2015 |
HGNC name | carnitine palmitoyltransferase 1A (liver) |
HGNC id | 2328 |
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Corresponding disease |
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Location | 11q13.2 Physical location : 68.522.090 - 68.609.399 | ||
Synonym name | carnitine O-palmitoyltransferase I, liver isoform | ||
Synonym symbol(s) | CPT1, CPT1-L, L-CPT1 | ||
EC.number | 2.3.1.21 |
DNA |
TYPE | functioning gene |
STRUCTURE | 87.31 kb 19 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | Promoter (CAAT box) |
cytosine-phosphate-guanine/HTF | |
text structure | alternative promoter |
MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | widely |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
interspecies | homolog to murine Cpt1a |
Homologene |
FAMILY |
CATEGORY | enzyme , transport |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria,outer | |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,cytosolic,microsome | |
text |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | mitochondrial transport |
PATHWAY |
metabolism | energetic , lipid/lipoprotein |
signaling |
fatty acid beta oxidation cycle |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein | |
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cell & other |
REGULATION |
inhibited by | hyperinsulinemia which shunts long chain fatty acids away from oxidation and toward storage in human muscle |
ASSOCIATED DISORDERS |
corresponding disease(s) | CPT1A |
related resource | MITOP database |
Other morbid association(s) |
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Susceptibility | to infant death |
Variant & Polymorphism other | homozygozity for the c.1436C>T sequence variant, increasing infant mortality |
Candidate gene
Marker
| Therapy target
| acting directly on the degree of its malonyl-CoA sensitivity may be a relevant strategy to prevent and/or correct hepatic steatosis |
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ANIMAL & CELL MODELS |