Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
| RefSeq Version | NM_000782.4, 193083115 |
| Length | 3287 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| 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]. Transcript Variant: This variant (1) encodes the longer isoform (1). |
| RefSeq | NP_000773.2 |
| CDS | 399..1943 | Exon (1) | 1..656 | Exon (2) | 1..656 | Exon (3) | 657..847 | Exon (4) | 848..941 | Exon (5) | 942..1038 | Exon (6) | 1039..1130 | Exon (7) | 1131..1242 | Exon (8) | 1243..1388 | Exon (9) | 1389..1555 | Exon (10) | 1556..1634 | Exon (11) | 1635..1832 | Exon (12) | 1833..1953 | Exon (13) | 1954..3266 |
| Translation | MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPG
PTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYR
TESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKIN
EVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIM
AIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSAD
FLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVL
PENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQ
VLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIV
RKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR
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| Position | Chain | Variation | Link |
| complement(212) | - | t, g | dbSNP:8183750 |
| complement(245) | - | c, a | dbSNP:75209626 |
| complement(305) | - | t, c | dbSNP:74424092 |
| complement(323) | - | g, a | dbSNP:73913755 |
| complement(361) | - | t, a | dbSNP:114797662 |
| complement(512) | - | c, a | dbSNP:61749689 |
| complement(632) | - | c, a | dbSNP:61755338 |
| complement(757) | - | t, c | dbSNP:114476330 |
| complement(767) | - | g, a | dbSNP:114334215 |
| complement(776) | - | t, c | dbSNP:116104487 |
| 867 | + | a, c, t | dbSNP:35873579 |
| 868 | + | a, g | dbSNP:35051736 |
| complement(950) | - | g, a | dbSNP:2296241 |
| complement(995) | - | g, a | dbSNP:114709484 |
| complement(1002) | - | g, c | dbSNP:114579367 |
| complement(1014) | - | t, c | dbSNP:115260488 |
| complement(1133) | - | t, c | dbSNP:114930663 |
| complement(1141) | - | g, c | dbSNP:16999131 |
| complement(1142) | - | t, c | dbSNP:6068816 |
| complement(1306) | - | g, c | dbSNP:76747058 |
| complement(1392) | - | t, c | dbSNP:116804918 |
| complement(1418) | - | g, a | dbSNP:77764129 |
| complement(1429) | - | t, c | dbSNP:116548533 |
| complement(1519) | - | g, a | dbSNP:6022990 |
| complement(1523) | - | t, c | dbSNP:2296239 |
| complement(1584) | - | g, a | dbSNP:114368325 |
| complement(1624) | - | g, a | dbSNP:6068812 |
| complement(1767) | - | t, c | dbSNP:112596218 |
| complement(1847) | - | g, a | dbSNP:73135773 |
| complement(1881) | - | t, c | dbSNP:77167734 |
| complement(1925) | - | g, a | dbSNP:61730999 |
| complement(1927) | - | g, a | dbSNP:116065115 |
| complement(1993) | - | g, a | dbSNP:2762934 |
| complement(2004) | - | g, a | dbSNP:6068811 |
| complement(2020) | - | c, a | dbSNP:16999067 |
| 2039 | + | a, g | dbSNP:3171182 |
| complement(2083) | - | g, a | dbSNP:4809957 |
| 2161 | + | c, g | dbSNP:55815122 |
| complement(2162) | - | , t | dbSNP:3834669 |
| complement(2381) | - | g, a | dbSNP:16999060 |
| complement(2658) | - | g, c | dbSNP:6022987 |
| complement(2659) | - | t, c | dbSNP:75213738 |
| complement(2812..2813) | - | , g | dbSNP:34547804 |
| complement(2815) | - | g, a | dbSNP:11907350 |
| complement(2829..2830) | - | , a | dbSNP:36121959 |
| complement(2930) | - | g, a | dbSNP:118099730 |
| complement(3198..3199) | - | , at | dbSNP:33948458 |
| complement(3199..3200) | - | , at | dbSNP:10623012 |
| complement(3199) | - | g, a | dbSNP:111801935 |
| complement(3200..3201) | - | , at | dbSNP:72535210 |
| 3209 | + | g, t | dbSNP:1063626 |
| Gene Symbol | CYP24A1 |
| Gene Synonym | CP24; CYP24; MGC126273; MGC126274; P450-CC24 |
| Chromosome | 20 |
| Locus Map | 20q13 |
| All Transcripts | NM_000782 , NM_001128915 |
| Title | Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification . |
| Author | Shen,H., Bielak,L.F., Ferguson,J.F., Streeten,E.A., Yerges-Armstrong,L.M., Liu,J., Post,W., O'Connell,J.R., Hixson,J.E., Kardia,S.L., Sun,Y.V., Jhun,M.A., Wang,X., Mehta,N.N., Li,M., Koller,D.L., Hakonarson,H., Keating,B.J., Rader,D.J., Shuldiner,A.R., Peyser,P.A., Reilly,M.P. and Mitchell,B.D. |
| Journal | Arterioscler. Thromb. Vasc. Biol. 30 (12), 2648-2654 (2010) |
| Title | Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects . |
| Author | Bu,F.X., Armas,L., Lappe,J., Zhou,Y., Gao,G., Wang,H.W., Recker,R. and Zhao,L.J. |
| Journal | Hum. Genet. 128 (5), 549-556 (2010) |
| Title | Vitamin D pathway gene variants and prostate cancer prognosis . |
| Author | Holt,S.K., Kwon,E.M., Koopmeiners,J.S., Lin,D.W., Feng,Z., Ostrander,E.A., Peters,U. and Stanford,J.L. |
| Journal | Prostate 70 (13), 1448-1460 (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 | Alterations in Vitamin D signalling and metabolic pathways in breast cancer progression: a study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions . |
| Author | Lopes,N., Sousa,B., Martins,D., Gomes,M., Vieira,D., Veronese,L.A., Milanezi,F., Paredes,J., Costa,J.L. and Schmitt,F. |
| Journal | BMC Cancer 10, 483 (2010) |
| 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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