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Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000782 Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_000782.4, 193083115
Length 3287 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), transcript variant 1, mRNA.
Product 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor
Comment

Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_000773.2
CDS 399..1943
Misc Feature(1)330..332
Misc Feature(2)573..1934
Exon (1)1..656
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (2)657..847
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (3)848..941
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (4)942..1038
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (5)1039..1130
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (6)1131..1242
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (7)1243..1388
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (8)1389..1555
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (9)1556..1634
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (10)1635..1832
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (11)1833..1953
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Exon (12)1954..3266
Gene:CYP24A1
Gene Synonym:CP24; CYP24; HCAI; P450-CC24
Translation MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPG PTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYR TESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKIN EVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIM AIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSAD FLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVL PENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQ VLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIV RKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR
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Position Chain Variation Link
complement(46)-dbSNP:
complement(46)-, cdbSNP:139947227
complement(93)-t, adbSNP:185796101
complement(103)-t, cdbSNP:374414065
complement(212)-t, gdbSNP:8183750
complement(236)-g, adbSNP:181127780
complement(245)-c, adbSNP:75209626
complement(299)-g, adbSNP:144737632
complement(305)-t, cdbSNP:74424092
complement(323)-g, adbSNP:73913755
complement(361)-t, adbSNP:114797662
complement(375)-g, adbSNP:369813382
complement(392)-, gdbSNP:372486342
complement(471)-g, cdbSNP:140851407
complement(476)-t, gdbSNP:371315145
complement(491)-t, cdbSNP:151204685
complement(493)-g, adbSNP:377542537
complement(512)-c, adbSNP:61749689
complement(524)-t, cdbSNP:373973327
complement(615)-t, adbSNP:201820243
complement(632)-c, adbSNP:61755338
complement(703)-dbSNP:
complement(703)-g, cdbSNP:368218305
complement(711)-t, cdbSNP:147642444
complement(749)-t, cdbSNP:145275834
complement(757)-t, c, adbSNP:114476330
complement(766)-t, cdbSNP:371481742
complement(767)-g, adbSNP:114334215
complement(774)-g, adbSNP:148084028
complement(776)-t, cdbSNP:116104487
complement(783)-t, gdbSNP:149806586
complement(795)-g, cdbSNP:200891772
complement(803)-t, cdbSNP:368019359
complement(826)-t, cdbSNP:374094543
complement(827)-t, gdbSNP:370328266
complement(841)-g, adbSNP:139763321
849+dbSNP:
849+g, tdbSNP:387907323
complement(855)-t, cdbSNP:185120393
867+a, c, tdbSNP:35873579
complement(868)-g, adbSNP:35051736
complement(871)-g, adbSNP:139655790
complement(873)-g, adbSNP:202070065
874+a, gdbSNP:387907322
complement(886)-t, cdbSNP:201010579
complement(887)-t, cdbSNP:375561602
complement(931)-t, cdbSNP:146404747
complement(950)-dbSNP:
complement(950)-g, adbSNP:2296241
complement(961)-t, cdbSNP:372187316
complement(975)-t, gdbSNP:377696502
complement(977)-g, adbSNP:368717988
complement(995)-g, adbSNP:114709484
complement(1002)-g, cdbSNP:114579367
complement(1008)-g, adbSNP:376607735
complement(1011)-t, cdbSNP:372579163
complement(1014)-t, cdbSNP:115260488
complement(1024)-t, cdbSNP:138489641
complement(1031)-t, cdbSNP:150102121
complement(1050)-dbSNP:
complement(1050)-t, cdbSNP:372063233
complement(1065)-t, adbSNP:367995295
complement(1133)-dbSNP:
complement(1133)-t, cdbSNP:114930663
1141+c, gdbSNP:16999131
complement(1142)-t, cdbSNP:6068816
complement(1151)-t, cdbSNP:377533549
complement(1169)-g, adbSNP:202109000
complement(1172)-g, cdbSNP:190860407
complement(1174)-g, adbSNP:373902459
complement(1181)-t, cdbSNP:199934501
complement(1229)-g, adbSNP:368898455
complement(1249)-dbSNP:
complement(1249)-t, gdbSNP:200624428
complement(1256)-g, adbSNP:201825042
complement(1257)-t, cdbSNP:375976660
complement(1279)-g, adbSNP:371873677
complement(1306)-g, cdbSNP:76747058
complement(1319)-g, adbSNP:147022974
complement(1346)-c, adbSNP:368404770
complement(1349)-g, adbSNP:370297190
complement(1355)-t, adbSNP:184453665
1362+a, gdbSNP:387907324
complement(1392)-dbSNP:
complement(1392)-t, cdbSNP:116804918
complement(1394)-t, gdbSNP:376545817
complement(1418)-g, adbSNP:77764129
complement(1429)-t, cdbSNP:116548533
complement(1479)-g, adbSNP:376508342
complement(1481)-g, adbSNP:147886742
complement(1498)-t, cdbSNP:142282494
complement(1519)-g, adbSNP:6022990
complement(1522)-g, adbSNP:189801930
complement(1523)-t, cdbSNP:2296239
complement(1537)-t, cdbSNP:150006710
complement(1541)-g, cdbSNP:139729577
complement(1552)-g, adbSNP:373730137
complement(1560)-dbSNP:
complement(1560)-t, cdbSNP:376409540
complement(1562)-t, cdbSNP:373504037
complement(1565)-t, cdbSNP:200816735
complement(1581)-t, cdbSNP:369690314
complement(1584)-g, adbSNP:114368325
complement(1585)-t, cdbSNP:143934667
complement(1595)-t, gdbSNP:201318628
complement(1605)-t, cdbSNP:373243941
complement(1617)-t, adbSNP:140189382
complement(1624)-g, adbSNP:6068812
complement(1633)-t, cdbSNP:376936695
complement(1680)-dbSNP:
complement(1680)-t, cdbSNP:368194785
complement(1713)-g, adbSNP:374292194
complement(1714)-t, cdbSNP:141152573
complement(1750)-g, adbSNP:200955146
complement(1767)-t, cdbSNP:112596218
complement(1785)-t, cdbSNP:201594722
complement(1808)-t, adbSNP:200305803
complement(1829)-g, adbSNP:143976129
complement(1839)-dbSNP:
complement(1839)-g, adbSNP:143523685
complement(1847)-g, adbSNP:73135773
complement(1880)-t, cdbSNP:138141685
1881+c, tdbSNP:77167734
complement(1912)-t, cdbSNP:146980218
complement(1925)-g, adbSNP:61730999
complement(1927)-g, adbSNP:116065115
complement(1928)-g, cdbSNP:150155645
complement(1962)-dbSNP:
complement(1962)-t, cdbSNP:191293339
complement(1993)-g, adbSNP:2762934
complement(2004)-g, adbSNP:6068811
complement(2020)-c, adbSNP:16999067
complement(2039)-t, cdbSNP:386580409
complement(2039)-g, adbSNP:3171182
complement(2083)-g, adbSNP:4809957
complement(2144)-g, adbSNP:185779902
2161..2165+a, cdbSNP:397741718
2161+a, c, gdbSNP:55815122
complement(2161)-c, adbSNP:201146875
complement(2161)-c, adbSNP:386626577
complement(2162)-, tdbSNP:3834669
complement(2260)-g, adbSNP:181138149
complement(2362)-t, cdbSNP:188321253
complement(2381)-g, adbSNP:16999060
complement(2610)-t, cdbSNP:185301140
complement(2641..2642)-, acdbSNP:147124541
complement(2644..2645)-, cadbSNP:376783134
complement(2655..2656)-, acdbSNP:372687331
complement(2658)-g, cdbSNP:6022987
complement(2659)-t, cdbSNP:75213738
complement(2691)-t, cdbSNP:371011704
complement(2812..2813)-, gdbSNP:34547804
complement(2815)-g, adbSNP:11907350
complement(2828)-c, adbSNP:182056037
complement(2829..2830)-, adbSNP:36121959
complement(2930)-g, adbSNP:118099730
complement(3078)-g, adbSNP:149240951
complement(3198..3199)-, atdbSNP:33948458
complement(3199..3200)-, atdbSNP:10623012
complement(3199)-g, adbSNP:111801935
complement(3200..3201)-, atdbSNP:72535210
complement(3200)-t, cdbSNP:201783270
complement(3201..3202)-, acdbSNP:201332611
3209+g, tdbSNP:1063626
Gene SymbolCYP24A1
Gene SynonymCP24; CYP24; HCAI; P450-CC24
Chromosome20
Locus Map20q13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001128915 Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), transcript variant 2, mRNA. On-demand $699.00 18
NM_000782 Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), transcript variant 1, mRNA. On-demand $699.00 18
XM_005260304 PREDICTED: Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), transcript variant X1, mRNA. On-demand $699.00 18
Title Increased copy-number and not DNA hypomethylation causes overexpression of the candidate proto-oncogene CYP24A1 in colorectal cancer .
Author Hobaus J, Hummel DM, Thiem U, Fetahu IS, Aggarwal A, Mullauer L, Heller G, Egger G, Mesteri I, Baumgartner-Parzer S and Kallay E.
Journal Int. J. Cancer 133 (6), 1380-1388 (2013)
Title Genetic variants in vitamin d pathway genes and risk of pancreas cancer; results from a population-based case-control study in ontario, Canada .
Author Anderson LN, Cotterchio M, Knight JA, Borgida A, Gallinger S and Cleary SP.
Journal PLoS ONE 8 (6), E66768 (2013)
Title CYP24A1 inhibition facilitates the anti-tumor effect of vitamin D3 on colorectal cancer cells .
Author Kosa JP, Horvath P, Wolfling J, Kovacs D, Balla B, Matyus P, Horvath E, Speer G, Takacs I, Nagy Z, Horvath H and Lakatos P.
Journal World J. Gastroenterol. 19 (17), 2621-2628 (2013)
Title Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia .
Author Skalova S, Cerna L, Bayer M, Kutilek S, Konrad M and Schlingmann KP.
Journal Iran J Kidney Dis 7 (2), 160-164 (2013)
Title Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations .
Author O'Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, Kottgen A, Stoudmann C, Teumer A, Kutalik Z, Mangino M, Dehghan A, Zhang W, Eiriksdottir G, Li G, Tanaka T, Portas L, Lopez LM, Hayward C, Lohman K, Matsuda K, Padmanabhan S, Firsov D, Sorice R, Ulivi S, Brockhaus AC, Kleber ME, Mahajan A, Ernst FD, Gudnason V, Launer LJ, Mace A, Boerwinckle E, Arking DE, Tanikawa C, Nakamura Y, Brown MJ, Gaspoz JM, Theler JM, Siscovick DS, Psaty BM, Bergmann S, Vollenweider P, Vitart V, Wright AF, Zemunik T, Boban M, Kolcic I, Navarro P, Brown EM, Estrada K, Ding J, Harris TB, Bandinelli S, Hernandez D, Singleton AB, Girotto G, Ruggiero D, d'Adamo AP, Robino A, Meitinger T, Meisinger C, Davies G, Starr JM, Chambers JC, Boehm BO, Winkelmann BR, Huang J, Murgia F, Wild SH, Campbell H, Morris AP, Franco OH, Hofman A, Uitterlinden AG, Rivadeneira F, Volker U, Hannemann A, Biffar R, Hoffmann W, Shin SY, Lescuyer P, Henry H, Schurmann C, Munroe PB, Gasparini P, Pirastu N, Ciullo M, Gieger C, Marz W, Lind L, Spector TD, Smith AV, Rudan I, Wilson JF, Polasek O, Deary IJ, Pirastu M, Ferrucci L, Liu Y, Kestenbaum B, Kooner JS, Witteman JC, Nauck M, Kao WH, Wallaschofski H, Bonny O, Fox CS and Bochud M.
Journal PLoS Genet. 9 (9), E1003796 (2013)
Title Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants .
Author Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
Journal Pharmacogenetics 14 (1), 1-18 (2004)
Title Recent progress in enzymology and molecular biology of enzymes involved in vitamin D metabolism .
Author Okuda K, Usui E and Ohyama Y.
Journal J. Lipid Res. 36 (8), 1641-1652 (1995)
Title Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements .
Author Chen KS and DeLuca HF.
Journal Biochim. Biophys. Acta 1263 (1), 1-9 (1995)
Title Expression of 25-hydroxyvitamin D3-24-hydroxylase mRNA in cultured human keratinocytes .
Author Chen ML, Heinrich G, Ohyama YI, Okuda K, Omdahl JL, Chen TC and Holick MF.
Journal Proc. Soc. Exp. Biol. Med. 207 (1), 57-61 (1994)
Title Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening .
Author Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and Morton CC.
Journal Genomics 23 (1), 42-50 (1994)

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