Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
| RefSeq Version | NM_152245.2, 223468668 |
| Length | 2951 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. |
| Product | carnitine O-palmitoyltransferase 1, muscle isoform isoform a |
| Comment | Summary: The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode isoform a. |
| RefSeq | NP_689451.1 |
| CDS | 139..2457 | Exon (1) | 1..119 | Exon (2) | 1..119 | Exon (3) | 120..279 | Exon (4) | 280..419 | Exon (5) | 420..597 | Exon (6) | 598..699 | Exon (7) | 700..837 | Exon (8) | 838..915 | Exon (9) | 916..1023 | Exon (10) | 1024..1108 | Exon (11) | 1109..1304 | Exon (12) | 1305..1490 | Exon (13) | 1491..1596 | Exon (14) | 1597..1713 | Exon (15) | 1714..1878 | Exon (16) | 1879..2013 | Exon (17) | 2014..2166 | Exon (18) | 2167..2280 | Exon (19) | 2281..2373 | Exon (20) | 2374..2934 |
| Translation | MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPT
SWLVVIMATVGSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRALLSMAIFSTGVWVTG
IFFFRQTLKLLLCYHGWMFEMHGKTSNLTRIWAMCIRLLSSRHPMLYSFQTSLPKLPVPR
VSATIQRYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVLKSWWASNYVSDWWEE
YIYLRGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALG
IVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLYEGARLLKPQDL
EMQFQRILDDPSPPQPGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVA
LDEESYSYDPEDEASLSLYGKALLHGNCYNRWFDKSFTLISFKNGQLGLNAEHAWADAPI
IGHLWEFVLGTDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKAL
ADDVELYCFQFLPFGKGLIKKCRTSPDAFVQIALQLAHFRDRGKFCLTYEASMTRMFREG
RTETVRSCTSESTAFVQAMMEGSHTKADLRDLFQKAAKKHQNMYRLAMTGAGIDRHLFCL
YLVSKYLGVSSPFLAEVLSEPWRLSTSQIPQSQIRMFDPEQHPNHLGAGGGFGPVADDGY
GVSYMIAGENTIFFHISSKFSSSETNAQRFGNHIRKALLDIADLFQVPKAYS
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| Position | Chain | Variation | Link |
| 15 | + | a, t | dbSNP:131758 |
| complement(123) | - | g, a | dbSNP:6520157 |
| 334 | + | a, g | dbSNP:3213445 |
| 730 | + | g, t | dbSNP:17848455 |
| 744 | + | c, t | dbSNP:17848456 |
| complement(770) | - | g, a | dbSNP:75678173 |
| complement(845) | - | t, c | dbSNP:112845250 |
| complement(853) | - | c, a | dbSNP:111267458 |
| 942 | + | c, t | dbSNP:17848457 |
| 1097 | + | a, g | dbSNP:2269383 |
| complement(1343..1344) | - | , ag | dbSNP:34945006 |
| complement(1418) | - | g, c | dbSNP:8142477 |
| complement(1446) | - | g, a | dbSNP:34744246 |
| complement(1560) | - | t, c | dbSNP:112259265 |
| complement(1681) | - | g, a | dbSNP:71318421 |
| complement(1690) | - | g, c | dbSNP:71318420 |
| 1729 | + | a, g | dbSNP:470117 |
| complement(2015) | - | t, c | dbSNP:111375437 |
| 2129 | + | a, c | dbSNP:1804702 |
| complement(2323) | - | t, c | dbSNP:114814733 |
| 2376 | + | c, t | dbSNP:17848472 |
| 2454 | + | a, c | dbSNP:1803460 |
| complement(2458..2711) | - | , largedeletion | dbSNP:71669847 |
| 2486 | + | a, g | dbSNP:17848473 |
| 2530 | + | g, t | dbSNP:877294 |
| complement(2588) | - | g, a | dbSNP:111633396 |
| 2736 | + | c, t | dbSNP:7238 |
| 2767 | + | g, t | dbSNP:12288 |
| 2772 | + | a, g | dbSNP:15195 |
| Gene Symbol | CPT1B |
| Gene Synonym | CPT1-M; CPT1M; CPTI; CPTI-M; FLJ55729; FLJ58750; KIAA1670; M-CPT1; MCCPT1; MCPT1 |
| Chromosome | 22 |
| Locus Map | 22q13.33 |
| All Transcripts | NM_152245 , NM_001145136 , NM_152246 , NM_001145134 , NM_001145137 , NM_001145135 , NM_004377 |
| Title | Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph . |
| Author | Casabonne,D., Reina,O., Benavente,Y., Becker,N., Maynadie,M., Foretova,L., Cocco,P., Gonzalez-Neira,A., Nieters,A., Boffetta,P., Middeldorp,J.M. and de Sanjose,S. |
| Journal | Haematologica 96 (2), 323-327 (2011) |
| Title | Replacement of C305 in heart/muscle-type isozyme of human carnitine palmitoyltransferase I with aspartic acid and other amino acids . |
| Author | Matsuo,T., Yamamoto,A., Yamamoto,T., Otsuki,K., Yamazaki,N., Kataoka,M., Terada,H. and Shinohara,Y. |
| Journal | Biochem. Genet. 48 (3-4), 193-201 (2010) |
| Title | Genetic variants in nuclear-encoded mitochondrial genes influence . |
| Author | Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J. |
| Journal | PLoS ONE 5 (9), E12862 (2010) |
| Title | Structural and functional genomics of the CPT1B gene for muscle-type carnitine palmitoyltransferase I in mammals . |
| Author | van der Leij,F.R., Cox,K.B., Jackson,V.N., Huijkman,N.C., Bartelds,B., Kuipers,J.R., Dijkhuizen,T., Terpstra,P., Wood,P.A., Zammit,V.A. and Price,N.T. |
| Journal | J. Biol. Chem. 277 (30), 26994-27005 (2002) |
| Title | Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I . |
| Author | Yamazaki,N., Shinohara,Y., Kajimoto,K., Shindo,M. and Terada,H. |
| Journal | J. Biol. Chem. 275 (41), 31739-31746 (2000) |
| Title | Co-regulation of tissue-specific alternative human carnitine palmitoyltransferase Ibeta gene promoters by fatty acid enzyme substrate . |
| Author | Yu,G.S., Lu,Y.C. and Gulick,T. |
| Journal | J. Biol. Chem. 273 (49), 32901-32909 (1998) |
| Title | Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I . |
| Author | Yamazaki,N., Yamanaka,Y., Hashimoto,Y., Shinohara,Y., Shima,A. and Terada,H. |
| Journal | FEBS Lett. 409 (3), 401-406 (1997) |
| Title | Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I . |
| Author | van der Leij,F.R., Takens,J., van der Veen,A.Y., Terpstra,P. and Kuipers,J.R. |
| Journal | Biochim. Biophys. Acta 1352 (2), 123-128 (1997) |
| Title | Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B) . |
| Author | Britton,C.H., Mackey,D.W., Esser,V., Foster,D.W., Burns,D.K., Yarnall,D.P., Froguel,P. and McGarry,J.D. |
| Journal | Genomics 40 (1), 209-211 (1997) |
| Title | Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I . |
| Author | Yamazaki,N., Shinohara,Y., Shima,A., Yamanaka,Y. and Terada,H. |
| Journal | Biochim. Biophys. Acta 1307 (2), 157-161 (1996) |
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