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Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000782 Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $448.05
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RefSeq Version NM_000782.4, 193083115
Length 3287 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, 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)570..1913
Misc Feature(3)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(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(471)-g, cdbSNP:140851407
complement(491)-t, cdbSNP:151204685
complement(512)-c, adbSNP:61749689
complement(615)-t, adbSNP:201820243
complement(632)-c, adbSNP:61755338
complement(711)-dbSNP:
complement(711)-t, cdbSNP:147642444
complement(749)-t, cdbSNP:145275834
complement(757)-t, cdbSNP:114476330
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(841)-g, adbSNP:139763321
complement(855)-dbSNP:
complement(855)-t, cdbSNP:185120393
complement(867)-t, c, adbSNP:35873579
complement(868)-g, adbSNP:35051736
complement(871)-g, adbSNP:139655790
complement(873)-g, adbSNP:202070065
complement(886)-t, cdbSNP:201010579
complement(931)-t, cdbSNP:146404747
complement(950)-dbSNP:
complement(950)-g, adbSNP:2296241
complement(995)-g, adbSNP:114709484
complement(1002)-g, cdbSNP:114579367
complement(1014)-t, cdbSNP:115260488
complement(1017)-t, gdbSNP:149235939
complement(1024)-t, cdbSNP:138489641
complement(1031)-t, cdbSNP:150102121
complement(1133)-dbSNP:
complement(1133)-t, cdbSNP:114930663
complement(1141)-g, cdbSNP:16999131
complement(1142)-t, cdbSNP:6068816
complement(1169)-g, adbSNP:202109000
complement(1172)-g, cdbSNP:190860407
complement(1181)-t, cdbSNP:199934501
complement(1249)-dbSNP:
complement(1249)-t, gdbSNP:200624428
complement(1256)-g, adbSNP:201825042
complement(1306)-g, cdbSNP:76747058
complement(1319)-g, adbSNP:147022974
complement(1355)-t, adbSNP:184453665
complement(1392)-dbSNP:
complement(1392)-t, cdbSNP:116804918
complement(1418)-g, adbSNP:77764129
complement(1429)-t, cdbSNP:116548533
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(1565)-dbSNP:
complement(1565)-t, cdbSNP:200816735
complement(1584)-g, adbSNP:114368325
complement(1585)-t, cdbSNP:143934667
complement(1595)-t, gdbSNP:201318628
complement(1617)-t, adbSNP:140189382
complement(1624)-g, adbSNP:6068812
complement(1714)-dbSNP:
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
complement(1881)-t, cdbSNP: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)-g, adbSNP:3171182
complement(2083)-g, adbSNP:4809957
complement(2144)-g, adbSNP:185779902
complement(2161..2162)-c, adbSNP:201146875
complement(2161)-g, c, adbSNP:55815122
complement(2164)-, 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(2658)-g, cdbSNP:6022987
complement(2659)-t, cdbSNP:75213738
complement(2814..2815)-, gdbSNP:34547804
complement(2815)-g, adbSNP:11907350
complement(2828)-c, adbSNP:182056037
complement(2830..2831)-, 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
complement(3209)-t, gdbSNP:1063626
Gene SymbolCYP24A1
Gene SynonymCP24; CYP24; HCAI; P450-CC24
Chromosome20
Locus Map20q13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000782 Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $1150.45
ORF Sequence $448.05
NM_001128915 Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), transcript variant 2, mRNA. Full Length $1081.15
ORF Sequence $390.63
Title Sunlight, polymorphisms of vitamin D-related genes and risk of breast cancer .
Author Fuhrman,B.J., Freedman,D.M., Bhatti,P., Doody,M.M., Fu,Y.P., Chang,S.C., Linet,M.S. and Sigurdson,A.J.
Journal Anticancer Res. 33 (2), 543-551 (2013)
Title Marked increase of CYP24A1 mRNA level in hepatocellular carcinoma cell lines following vitamin D administration .
Author Horvath,E., Lakatos,P., Balla,B., Kosa,J.P., Tobias,B., Jozilan,H., Borka,K., Horvath,H.C., Kovalszky,I. and Szalay,F.
Journal Anticancer Res. 32 (11), 4791-4796 (2012)
Title Phorbol esters enhance 1alpha,25-dihydroxyvitamin D3-regulated 25-hydroxyvitamin D-24-hydroxylase (CYP24A1) gene expression through ERK-mediated phosphorylation of specific protein 3 (Sp3) in Caco-2 cells .
Author Jiang,Y. and Fleet,J.C.
Journal Mol. Cell. Endocrinol. 361 (1-2), 31-39 (2012)
Title Impaired vitamin D activation and association with CYP24A1 haplotypes in differentiated thyroid carcinoma .
Author Penna-Martinez,M., Ramos-Lopez,E., Stern,J., Kahles,H., Hinsch,N., Hansmann,M.L., Selkinski,I., Grunwald,F., Vorlander,C., Bechstein,W.O., Zeuzem,S., Holzer,K. and Badenhoop,K.
Journal Thyroid 22 (7), 709-716 (2012)
Title Astemizole synergizes calcitriol antiproliferative activity by inhibiting CYP24A1 and upregulating VDR: a novel approach for breast cancer therapy .
Author Garcia-Quiroz,J., Garcia-Becerra,R., Barrera,D., Santos,N., Avila,E., Ordaz-Rosado,D., Rivas-Suarez,M., Halhali,A., Rodriguez,P., Gamboa-Dominguez,A., Medina-Franco,H., Camacho,J., Larrea,F. and Diaz,L.
Journal PLoS ONE 7 (9), E45063 (2012)
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,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and Nebert,D.W.
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,K.S. and DeLuca,H.F.
Journal Biochim. Biophys. Acta 1263 (1), 1-9 (1995)
Title Expression of 25-hydroxyvitamin D3-24-hydroxylase mRNA in cultured human keratinocytes .
Author Chen,M.L., Heinrich,G., Ohyama,Y.I., Okuda,K., Omdahl,J.L., Chen,T.C. and Holick,M.F.
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,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R. and Morton,C.C.
Journal Genomics 23 (1), 42-50 (1994)

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