7-dehydrocholesterol reductase

Details

Name
7-dehydrocholesterol reductase
Synonyms
  • 1.3.1.21
  • 7-DHC reductase
  • D7SR
  • Putative sterol reductase SR-2
  • Sterol Delta(7)-reductase
Gene Name
DHCR7
Organism
Humans
Amino acid sequence
>lcl|BSEQ0009887|7-dehydrocholesterol reductase
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
Number of residues
475
Molecular Weight
54488.98
Theoretical pI
8.82
GO Classification
Functions
7-dehydrocholesterol reductase activity
Processes
blood vessel development / cell differentiation / cholesterol biosynthetic process / lung development / multicellular organism growth / post-embryonic development / regulation of cell proliferation / regulation of cholesterol biosynthetic process / small molecule metabolic process
Components
endoplasmic reticulum / endoplasmic reticulum membrane / integral component of endoplasmic reticulum membrane / membrane / nuclear outer membrane
General Function
7-dehydrocholesterol reductase activity
Specific Function
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Pfam Domain Function
Transmembrane Regions
40-60 154-174 177-197 266-286 306-326 331-351 420-440
Cellular Location
Endoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0009888|7-dehydrocholesterol reductase (DHCR7)
ATGGCTGCAAAATCGCAACCCAACATTCCCAAAGCCAAGAGTCTAGATGGCGTCACCAAT
GACAGAACCGCATCTCAAGGGCAGTGGGGCCGTGCCTGGGAGGTGGACTGGTTTTCACTG
GCGAGCGTCATCTTCCTACTGCTGTTCGCCCCCTTCATCGTCTACTACTTCATCATGGCT
TGTGACCAGTACAGCTGCGCCCTGACTGGCCCTGTGGTGGACATCGTCACCGGACATGCT
CGGCTCTCGGACATCTGGGCCAAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTAT
ACCTTGTGGGTCACCTTCCAGGTGCTTCTGTACACGTCTCTCCCTGACTTCTGCCATAAG
TTTCTACCCGGCTACGTAGGAGGCATCCAGGAGGGGGCCGTGACTCCTGCAGGGGTTGTG
AACAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCA
AACGCTCATCTCCTGTCCTGGTTCTCGCCCACCATCATCTTCGACAACTGGATCCCACTG
CTGTGGTGCGCCAACATCCTTGGCTATGCCGTCTCCACCTTCGCCATGGTCAAGGGCTAC
TTCTTCCCCACCAGCGCCAGAGACTGCAAATTCACAGGCAATTTCTTTTACAACTACATG
ATGGGCATCGAGTTTAACCCTCGGATCGGGAAGTGGTTTGACTTCAAGCTGTTCTTCAAT
GGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAACCTGTCCTTCGCAGCGAAGCAGCGG
GAGCTCCACAGCCATGTGACCAATGCCATGGTCCTGGTCAACGTCCTGCAGGCCATCTAC
GTGATTGACTTCTTCTGGAACGAAACCTGGTACCTGAAGACCATTGACATCTGCCATGAC
CACTTCGGGTGGTACCTGGGCTGGGGCGACTGTGTCTGGCTGCCTTATCTTTACACGCTG
CAGGGTCTGTACTTGGTGTACCACCCCGTGCAGCTGTCCACCCCGCACGCCGTGGGCGTC
CTGCTGCTGGGCCTGGTGGGCTACTACATCTTCCGGGTGGCCAACCACCAGAAGGACCTG
TTCCGCCGCACGGATGGGCGCTGCCTCATCTGGGGCAGGAAGCCCAAGGTCATCGAGTGC
TCCTACACATCCGCCGATGGGCAGAGGCACCACAGCAAGCTGCTGGTGTCGGGCTTCTGG
GGCGTGGCCCGCCACTTCAACTACGTCGGCGACCTGATGGGCAGCCTGGCCTACTGCCTG
GCCTGTGGCGGCGGCCACCTGCTGCCCTACTTCTACATCATCTACATGGCCATCCTGCTG
ACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAGCAAGTACGGCCGGGACTGGGAG
CGCTACACCGCCGCAGTGCCTTACCGCCTGCTGCCTGGAATCTTCTAA
Chromosome Location
11
Locus
11q13.2-q13.5
External Identifiers
ResourceLink
UniProtKB IDQ9UBM7
UniProtKB Entry NameDHCR7_HUMAN
GenBank Protein ID4191398
GenBank Gene IDAF096305
GenAtlas IDDHCR7
HGNC IDHGNC:2860
General References
  1. Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ: Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet. 1998 Aug;63(2):329-38. [Article]
  2. Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H: Molecular cloning and expression of the human delta7-sterol reductase. Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1899-902. [Article]
  3. Holmer L, Pezhman A, Worman HJ: The human lamin B receptor/sterol reductase multigene family. Genomics. 1998 Dec 15;54(3):469-76. [Article]
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  6. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD: Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet. 1998 Jul;63(1):55-62. [Article]
  7. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. doi: 10.1016/j.molcel.2008.07.007. [Article]
  8. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. doi: 10.1074/mcp.M800588-MCP200. Epub 2009 Apr 15. [Article]
  9. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [Article]
  10. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. [Article]
  11. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
  12. Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. Sci Signal. 2011 Mar 15;4(164):rs3. doi: 10.1126/scisignal.2001570. [Article]
  13. Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E, Prieto J, Arnesen T, Sherman F, Gevaert K, Aldabe R: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12449-54. doi: 10.1073/pnas.1210303109. Epub 2012 Jul 18. [Article]
  14. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [Article]
  15. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
  16. Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF: Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8181-6. [Article]
  17. Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G: Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet. 2000 Feb;66(2):402-12. [Article]
  18. Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD: Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Am J Med Genet. 2000 Sep 18;94(3):214-27. [Article]
  19. Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR: Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. Ann Hum Genet. 2001 May;65(Pt 3):229-36. [Article]
  20. Witsch-Baumgartner M, Ciara E, Loffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G: Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet. 2001 Jan;9(1):45-50. [Article]
  21. Langius FA, Waterham HR, Romeijn GJ, Oostheim W, de Barse MM, Dorland L, Duran M, Beemer FA, Wanders RJ, Poll-The BT: Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2003 Sep 15;122A(1):24-9. [Article]
  22. Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD: Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Hum Mutat. 2005 Jul;26(1):59. [Article]
  23. Cromer MK, Choi M, Nelson-Williams C, Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B, Malchoff CD, Stalberg P, Akerstrom G, Westin G, Hellman P, Carling T, Bjorklund P, Lifton RP: Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):4062-7. doi: 10.1073/pnas.1503696112. Epub 2015 Mar 18. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00157NADHapproved, nutraceuticalunknownDetails