RBCC Red Blood Cell Collection

CPT1A_HUMAN

Source: hRBCD ; ID: IPI00032038
PM19886704
PM23856902
BSc_CH
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: CPT1A , CPT1
Protein names and data: CPT1A_HUMAN , Carnitine O-palmitoyltransferase 1, liver isoform; CPT1-L; 2.3.1.21 , Carnitine O-palmitoyltransferase I, liver isoform; CPT I; CPTI-L; Carnitine palmitoyltransferase 1A Lenght: 773 a.a.
Mass: 88368 Da
fasta formatted sequence
Function: Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.
Catalytic activity: Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine.
Pathway: Lipid metabolism; fatty acid beta-oxidation.
Disease: ( OMIM: 255120 600528 ) Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]: Rare autosomal recessive metabolic disorder of long- chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Mitochondrion outer membrane; Multi-pass membrane protein.
Tissue specificity: Strong expression in kidney and heart, and lower in liver and skeletal muscle.

Genetic variants

123 - 123 R -> C (in CPT1AD). VAR_020546
275 - 275 A -> T (in dbSNP:rs2229738). VAR_020547 2229738
304 - 304 C -> W (in CPT1AD). VAR_020548
314 - 314 T -> I (in CPT1AD). VAR_020549
316 - 316 R -> G (in CPT1AD). VAR_046767
343 - 343 F -> V (in CPT1AD). VAR_046768
357 - 357 R -> W (in CPT1AD; decreased stability). VAR_020550
360 - 360 E -> G (in CPT1AD; reduced protein levels; dbSNP:rs28936372). VAR_020551 28936372
395 - 395 Missing (in CPT1AD; loss of activity). VAR_020552
414 - 414 A -> V (in CPT1AD; decreased activity; dbSNP:rs28936373). VAR_020553 28936373
454 - 454 D -> G (in CPT1AD). VAR_020554
465 - 465 G -> W (in CPT1AD). VAR_046769
479 - 479 P -> L (in CPT1AD; decreased activity). VAR_020555
484 - 484 L -> P (in CPT1AD). VAR_020556
498 - 498 Y -> C (in CPT1AD; decreased activity). VAR_020557
709 - 709 G -> E (in CPT1AD; loss of activity; dbSNP:rs28936374). VAR_020558 28936374
710 - 710 G -> E (in CPT1AD; loss of activity). VAR_020559

Database cross-references

UniProt: P50416
Ensembl: ENST00000265641
Ensembl: ENST00000376618
Ensembl: ENST00000539743
Ensembl: ENST00000540367
MIM: 255120
MIM: 600528
neXtProt: NX_P50416
Antibodypedia: P50416 (may not find the protein thus also not any antibody)
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