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Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 7, mRNA.


RefSeq Accession Definition Services Price Order
NM_001145136 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 7, mRNA. ORF Sequence $602.04
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RefSeq Version NM_001145136.1, 223468673
Length 2454 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 7, mRNA.
Product carnitine O-palmitoyltransferase 1, muscle isoform isoform d
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 (7) differs in the 5' and 3' UTRs, and uses two alternate splice sites resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. This results in a shorter isoform (d), compared to isoform a.

RefSeq NP_001138608.1
CDS 139..2214
Misc Feature(1)51
Misc Feature(2)280..357
Misc Feature(3)280..357
Misc Feature(4)445..504
Misc Feature(5)652..>1206
Misc Feature(6)<1201..2184
Exon (1)1..119
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (2)120..279
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (3)280..419
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (4)420..597
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (5)598..699
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (6)700..837
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (7)838..915
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (8)916..1023
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (9)1024..1108
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (10)1109..1199
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (11)1200..1247
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (12)1248..1353
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (13)1354..1470
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (14)1471..1635
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (15)1636..1770
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (16)1771..1923
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (17)1924..2037
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (18)2038..2130
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (19)2131..2216
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Exon (20)2217..2437
Gene:CPT1B
Gene Synonym:CPT1-M; CPT1M; CPTI; CPTI-M; M-CPT1; MCCPT1; MCPT1
Translation MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPT SWLVVIMATVGSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRALLSMAIFSTGVWVTG IFFFRQTLKLLLCYHGWMFEMHGKTSNLTRIWAMCIRLLSSRHPMLYSFQTSLPKLPVPR VSATIQRYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVLKSWWASNYVSDWWEE YIYLRGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALG IVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLYEGARLLSLYGK ALLHGNCYNRWFDKSFTLISFKNGQLGLNAEHAWADAPIIGHLWEFVLGTDSFHLGYTET GHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKALADDVELYCFQFLPFGKGLIKK CRTSPDAFVQIALQLAHFRDRGKFCLTYEASMTRMFREGRTETVRSCTSESTAFVQAMME GSHTKADLRDLFQKAAKKHQNMYRLAMTGAGIDRHLFCLYLVSKYLGVSSPFLAEVLSEP WRLSTSQIPQSQIRMFDPEQHPNHLGAGGGFGPVADDGYGVSYMIAGENTIFFHISSKFS SSETNAQRFGNHIRKALLDIADLFQVPKAYS
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Position Chain Variation Link
complement(15)-dbSNP:
complement(15)-t, adbSNP:131758
complement(123)-dbSNP:
complement(123)-g, adbSNP:6520157
complement(189)-g, cdbSNP:199821148
complement(288)-dbSNP:
complement(288)-g, adbSNP:146714587
complement(334)-g, adbSNP:3213445
complement(371)-t, gdbSNP:145748704
complement(379)-g, adbSNP:140878554
complement(381)-g, cdbSNP:201984897
complement(391)-t, cdbSNP:146428319
complement(441)-dbSNP:
complement(441)-t, cdbSNP:142502983
complement(480)-c, adbSNP:148805071
complement(494)-g, adbSNP:199841221
complement(495)-t, cdbSNP:145406536
complement(512)-t, cdbSNP:150050955
complement(575)-t, cdbSNP:140085174
complement(624)-dbSNP:
complement(624)-t, cdbSNP:202135722
complement(661)-t, cdbSNP:182821554
complement(698)-t, cdbSNP:147502032
complement(730)-dbSNP:
complement(730)-t, gdbSNP:17848455
complement(738)-t, adbSNP:143125736
complement(744)-t, cdbSNP:17848456
complement(770)-g, adbSNP:75678173
complement(773)-t, cdbSNP:140797488
complement(789)-g, adbSNP:150621657
complement(836)-t, cdbSNP:199949985
complement(845)-dbSNP:
complement(845)-t, cdbSNP:112845250
complement(853)-c, adbSNP:111267458
complement(892)-t, cdbSNP:141837905
complement(898)-t, cdbSNP:148070553
complement(942)-dbSNP:
complement(942)-t, cdbSNP:17848457
complement(966)-t, gdbSNP:184510872
complement(971)-g, adbSNP:200933686
complement(976)-t, cdbSNP:201673605
complement(992)-t, cdbSNP:141802871
complement(995)-t, cdbSNP:138696904
complement(1082)-g, cdbSNP:201769569
complement(1095)-t, cdbSNP:144743183
complement(1097)-g, adbSNP:2269383
complement(1136)-dbSNP:
complement(1136)-t, cdbSNP:191569295
complement(1140)-g, adbSNP:200798217
complement(1196)-t, cdbSNP:144936442
complement(1203)-dbSNP:
complement(1203)-g, adbSNP:34744246
complement(1229)-t, adbSNP:144799109
complement(1248)-dbSNP:
complement(1248)-t, cdbSNP:140863538
complement(1252)-g, adbSNP:144280175
complement(1272)-t, gdbSNP:149999532
complement(1317)-t, cdbSNP:112259265
complement(1349)-t, cdbSNP:150817976
complement(1365)-g, adbSNP:200086261
complement(1392)-t, cdbSNP:201226839
complement(1431)-g, adbSNP:200007612
complement(1432)-t, cdbSNP:141870572
complement(1438)-g, adbSNP:71318421
complement(1445)-t, cdbSNP:149756287
complement(1447)-g, cdbSNP:71318420
complement(1486)-dbSNP:
complement(1486)-g, adbSNP:470117
complement(1501)-t, cdbSNP:200572653
complement(1512)-t, cdbSNP:142560979
complement(1521)-g, adbSNP:182745269
complement(1569)-g, adbSNP:148018730
complement(1583)-t, cdbSNP:143499448
complement(1613)-g, adbSNP:148842805
complement(1633)-g, adbSNP:138391114
complement(1634)-t, cdbSNP:145751063
complement(1697)-dbSNP:
complement(1697)-t, cdbSNP:141885850
complement(1702)-g, cdbSNP:147955265
complement(1733)-g, adbSNP:144863640
complement(1734)-t, cdbSNP:142545174
complement(1772)-dbSNP:
complement(1772)-t, cdbSNP:111375437
complement(1775)-t, gdbSNP:146224883
complement(1828)-g, adbSNP:142883442
complement(1872)-g, cdbSNP:190052870
complement(1886)-c, adbSNP:1804702
complement(1932)-dbSNP:
complement(1932)-t, cdbSNP:201695087
complement(1943)-t, cdbSNP:200495991
complement(1986)-g, adbSNP:148525939
complement(2028)-g, adbSNP:201037998
complement(2076)-dbSNP:
complement(2076)-t, cdbSNP:144698481
complement(2080)-t, cdbSNP:114814733
complement(2087)-g, adbSNP:139996419
complement(2090)-g, adbSNP:199944176
complement(2133)-dbSNP:
complement(2133)-t, cdbSNP:17848472
complement(2134)-t, cdbSNP:201978200
complement(2151)-t, gdbSNP:146028334
complement(2159)-t, cdbSNP:200771908
complement(2177)-g, adbSNP:142616949
complement(2205)-g, cdbSNP:138045495
complement(2209)-t, gdbSNP:150762471
complement(2211)-c, adbSNP:1803460
complement(2239)-t, cdbSNP:7238
complement(2270)-t, gdbSNP:12288
complement(2275)-g, adbSNP:15195
complement(2370)-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 Sequence Price Select
NM_001145134 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. Full Length $752.55
ORF Sequence $642.93
NM_001145135 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 6, mRNA. Full Length $782.13
ORF Sequence $672.51
NM_001145136 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 7, mRNA. Full Length $711.66
ORF Sequence $602.04
NM_001145137 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA. Full Length $789.09
ORF Sequence $672.51
NM_004377 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $844.48
ORF Sequence $672.51
NM_152245 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $855.79
ORF Sequence $672.51
NM_152246 Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. Full Length $770.82
ORF Sequence $672.51
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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