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Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004377 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_004377.3, 311213909
Length 2912 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, 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, Jun 2009].


Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, 3, 6, and 8 all encode isoform a.

RefSeq NP_004368.1
CDS 100..2418
Misc Feature(1)16..18
Misc Feature(2)16..18
Misc Feature(3)28
Misc Feature(4)241..318
Misc Feature(5)241..318
Misc Feature(6)406..465
Misc Feature(7)613..2388
Misc Feature(8)1762..1800
Exon (1)1..80
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (2)81..240
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (3)241..380
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (4)381..558
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (5)559..660
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (6)661..798
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (7)799..876
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (8)877..984
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (9)985..1069
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (10)1070..1265
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (11)1266..1451
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (12)1452..1557
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (13)1558..1674
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (14)1675..1839
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (15)1840..1974
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (16)1975..2127
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (17)2128..2241
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (18)2242..2334
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (19)2335..2895
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Translation MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPT SWLVVIMATVGSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRALLSMAIFSTGVWVTG IFFFRQTLKLLLCYHGWMFEMHGKTSNLTRIWAMCIRLLSSRHPMLYSFQTSLPKLPVPR VSATIQRYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVLKSWWASNYVSDWWEE YIYLRGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALG IVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLYEGARLLKPQDL EMQFQRILDDPSPPQPGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVA LDEESYSYDPEDEASLSLYGKALLHGNCYNRWFDKSFTLISFKNGQLGLNAEHAWADAPI IGHLWEFVLGTDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKAL ADDVELYCFQFLPFGKGLIKKCRTSPDAFVQIALQLAHFRDRGKFCLTYEASMTRMFREG RTETVRSCTSESTAFVQAMMEGSHTKADLRDLFQKAAKKHQNMYRLAMTGAGIDRHLFCL YLVSKYLGVSSPFLAEVLSEPWRLSTSQIPQSQIRMFDPEQHPNHLGAGGGFGPVADDGY GVSYMIAGENTIFFHISSKFSSSETNAQRFGNHIRKALLDIADLFQVPKAYS
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Position Chain Variation Link
complement(84)-dbSNP:
complement(84)-g, adbSNP:6520157
complement(150)-g, cdbSNP:199821148
complement(249)-dbSNP:
complement(249)-g, adbSNP:146714587
complement(295)-g, adbSNP:3213445
complement(332)-t, gdbSNP:145748704
complement(340)-g, adbSNP:140878554
complement(342)-g, cdbSNP:201984897
complement(352)-t, cdbSNP:146428319
complement(402)-dbSNP:
complement(402)-t, cdbSNP:142502983
complement(441)-c, adbSNP:148805071
complement(455)-g, adbSNP:199841221
complement(456)-t, cdbSNP:145406536
complement(473)-t, cdbSNP:150050955
complement(536)-t, cdbSNP:140085174
complement(585)-dbSNP:
complement(585)-t, cdbSNP:202135722
complement(622)-t, cdbSNP:182821554
complement(659)-t, cdbSNP:147502032
complement(691)-dbSNP:
complement(691)-t, gdbSNP:17848455
complement(699)-t, adbSNP:143125736
complement(705)-t, cdbSNP:17848456
complement(731)-g, adbSNP:75678173
complement(734)-t, cdbSNP:140797488
complement(750)-g, adbSNP:150621657
complement(797)-t, cdbSNP:199949985
complement(806)-dbSNP:
complement(806)-t, cdbSNP:112845250
complement(814)-c, adbSNP:111267458
complement(853)-t, cdbSNP:141837905
complement(859)-t, cdbSNP:148070553
complement(903)-dbSNP:
complement(903)-t, cdbSNP:17848457
complement(927)-t, gdbSNP:184510872
complement(932)-g, adbSNP:200933686
complement(937)-t, cdbSNP:201673605
complement(953)-t, cdbSNP:141802871
complement(956)-t, cdbSNP:138696904
complement(1043)-g, cdbSNP:201769569
complement(1056)-t, cdbSNP:144743183
complement(1058)-g, adbSNP:2269383
complement(1097)-dbSNP:
complement(1097)-t, cdbSNP:191569295
complement(1101)-g, adbSNP:200798217
complement(1157)-t, cdbSNP:144936442
complement(1180)-t, cdbSNP:199498809
complement(1286)-dbSNP:
complement(1286)-t, cdbSNP:150309698
complement(1297)-g, adbSNP:201454560
complement(1302)-g, adbSNP:200392450
complement(1304..1305)-, agdbSNP:34945006
complement(1345)-t, cdbSNP:140100981
complement(1371)-t, cdbSNP:151130325
complement(1379)-g, cdbSNP:8142477
complement(1382)-t, cdbSNP:141820211
complement(1407)-g, adbSNP:34744246
complement(1433)-t, adbSNP:144799109
complement(1452)-dbSNP:
complement(1452)-t, cdbSNP:140863538
complement(1456)-g, adbSNP:144280175
complement(1476)-t, gdbSNP:149999532
complement(1521)-t, cdbSNP:112259265
complement(1553)-t, cdbSNP:150817976
complement(1569)-g, adbSNP:200086261
complement(1596)-t, cdbSNP:201226839
complement(1635)-g, adbSNP:200007612
complement(1636)-t, cdbSNP:141870572
complement(1642)-g, adbSNP:71318421
complement(1649)-t, cdbSNP:149756287
complement(1651)-g, cdbSNP:71318420
complement(1690)-dbSNP:
complement(1690)-g, adbSNP:470117
complement(1705)-t, cdbSNP:200572653
complement(1716)-t, cdbSNP:142560979
complement(1725)-g, adbSNP:182745269
complement(1773)-g, adbSNP:148018730
complement(1787)-t, cdbSNP:143499448
complement(1817)-g, adbSNP:148842805
complement(1837)-g, adbSNP:138391114
complement(1838)-t, cdbSNP:145751063
complement(1901)-dbSNP:
complement(1901)-t, cdbSNP:141885850
complement(1906)-g, cdbSNP:147955265
complement(1937)-g, adbSNP:144863640
complement(1938)-t, cdbSNP:142545174
complement(1976)-dbSNP:
complement(1976)-t, cdbSNP:111375437
complement(1979)-t, gdbSNP:146224883
complement(2032)-g, adbSNP:142883442
complement(2076)-g, cdbSNP:190052870
complement(2090)-c, adbSNP:1804702
complement(2136)-dbSNP:
complement(2136)-t, cdbSNP:201695087
complement(2147)-t, cdbSNP:200495991
complement(2190)-g, adbSNP:148525939
complement(2232)-g, adbSNP:201037998
complement(2280)-dbSNP:
complement(2280)-t, cdbSNP:144698481
complement(2284)-t, cdbSNP:114814733
complement(2291)-g, adbSNP:139996419
complement(2294)-g, adbSNP:199944176
complement(2337)-dbSNP:
complement(2337)-t, cdbSNP:17848472
complement(2338)-t, cdbSNP:201978200
complement(2355)-t, gdbSNP:146028334
complement(2363)-t, cdbSNP:200771908
complement(2381)-g, adbSNP:142616949
complement(2409)-g, cdbSNP:138045495
complement(2413)-t, gdbSNP:150762471
complement(2415)-c, adbSNP:1803460
complement(2447)-g, adbSNP:17848473
complement(2460)-t, cdbSNP:147069509
complement(2491)-t, gdbSNP:877294
complement(2549)-g, adbSNP:111633396
complement(2697)-t, cdbSNP:7238
complement(2728)-t, gdbSNP:12288
complement(2733)-g, adbSNP:15195
complement(2828)-t, cdbSNP:184896296
Gene SymbolCPT1B
Gene SynonymCPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Chromosome22
Locus Map22q13.33
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001145134 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. On-demand $849.00 20
NM_001145135 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 6, mRNA. On-demand $899.00 20
NM_001145136 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 7, mRNA. On-demand $849.00 20
NM_001145137 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA. On-demand $899.00 20
NM_004377 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. On-demand $899.00 20
NM_152245 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. On-demand $899.00 20
NM_152246 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. On-demand $899.00 20
Title A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome .
Author Auinger,A., Rubin,D., Sabandal,M., Helwig,U., Ruther,A., Schreiber,S., Foelsch,U.R., Doring,F. and Schrezenmeir,J.
Journal Br. J. Nutr. 109 (5), 810-815 (2013)
Title Exertional rhabdomyolysis: a clinical review with a focus on genetic influences .
Author Landau,M.E., Kenney,K., Deuster,P. and Campbell,W.
Journal J Clin Neuromuscul Dis 13 (3), 122-136 (2012)
Title TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy .
Author Han,F., Lin,L., Li,J., Aran,A., Dong,S.X., An,P., Zhao,L., Li,Q.Y., Yan,H., Wang,J.S., Gao,H.Y., Li,M., Gao,Z.C., Strohl,K.P. and Mignot,E.
Journal Sleep Med. 13 (3), 269-272 (2012)
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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