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Identification
HMDB Protein ID HMDBP00262
Secondary Accession Numbers
  • 5494
Name Delta(14)-sterol reductase
Synonyms
  1. Another new gene 1 protein
  2. C-14 sterol reductase
  3. Delta-14-SR
  4. Putative sterol reductase SR-1
  5. Sterol C14-reductase
  6. Transmembrane 7 superfamily member 2
Gene Name TM7SF2
Protein Type Enzyme
Biological Properties
General Function Involved in delta14-sterol reductase activity
Specific Function Involved in the conversion of lanosterol to cholesterol.
Pathways
  • Alendronate Action Pathway
  • Atorvastatin Action Pathway
  • Cerivastatin Action Pathway
  • CHILD Syndrome
  • Cholesteryl ester storage disease
  • Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)
  • Desmosterolosis
  • Fluvastatin Action Pathway
  • Hyper-IgD syndrome
  • Hypercholesterolemia
  • Ibandronate Action Pathway
  • Lovastatin Action Pathway
  • Lysosomal Acid Lipase Deficiency (Wolman Disease)
  • Mevalonic aciduria
  • Pamidronate Action Pathway
  • Pravastatin Action Pathway
  • Risedronate Action Pathway
  • Rosuvastatin Action Pathway
  • Simvastatin Action Pathway
  • Smith-Lemli-Opitz Syndrome (SLOS)
  • Steroid biosynthesis
  • Steroid Biosynthesis
  • Wolman disease
  • Zoledronate Action Pathway
Reactions
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol + NADP → 4,4-Dimethylcholesta-8,14,24-trienol + NADPH details
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol + NADP → 4,4-Dimethylcholesta-8,14,24-trienol + NADPH + Hydrogen Ion details
delta8,14-Sterol + NADPH + Hydrogen Ion → 4alpha-Methylfecosterol + NADP details
GO Classification
Biological Process
cholesterol biosynthetic process
Cellular Component
endoplasmic reticulum membrane
integral to plasma membrane
Component
membrane
cell part
Molecular Function
delta14-sterol reductase activity
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location 11
Locus 11q13
SNPs TM7SF2
Gene Sequence
>1257 bp
ATGGCCCCCACTCAGGGCCCCCGGGCCCCGCTGGAATTCGGAGGGCCCCTGGGCGCCGCG
GCTCTGCTACTGCTGCTGCCCGCCACCATGTTCCACCTGCTCCTGGCGGCCCGTTCGGGC
CCCGCGCGCCTGCTGGGTCCACCCGCGTCCCTGCCCGGGCTGGAGGTGCTGTGGAGCCCA
CGGGCGCTGCTGCTGTGGCTCGCCTGGCTCGGCCTGCAGGCGGCGCTCTACCTACTGCCG
GCGCGCAAGGTGGCCGAGGGGCAGGAATTGAAGGACAAGAGTCGCCTGCGCTATCCTATT
AACGGCTTCCAGGCCCTGGTGCTGACAGCCCTGTTGGTGGGGCTGGGGATGTCAGCGGGG
CTGCCTCTGGGGGCGCTCCCGGAAATGCTCCTGCCCTTGGCGTTTGTCGCCACCCTCACC
GCTTTCATCTTCAGCCTCTTTCTCTACATGAAGGCGCAGGTAGCCCCAGTTTCGGCCCTG
GCACCTGGGGGGAACTCAGGCAATCCGATTTACGACTTTTTTCTGGGACGAGAGCTCAAC
CCTCGTATCTGTTTCTTCGACTTCAAATATTTCTGTGAACTGCGACCCGGCCTCATCGGC
TGGGTCCTCATCAACCTGGCCCTGTTGATGAAGGAGGCAGAGCTTCGAGGCAGTCCCTCA
CTGGCCATGTGGCTGGTCAATGGCTTCCAGTTGCTCTACGTGGGTGATGCCCTCTGGCAC
GAGGAGGCCGTCCTCACCACCATGGATATCACACATGACGGGTTTGGCTTCATGCTGGCG
TTTGGGGACATGGCCTGGGTGCCCTTCACCTACAGCCTGCAGGCCCAGTTCCTGCTGCAC
CACCCGCAGCCCCTGGGGTTGCCCATGGCCTCTGTCATCTGCCTCATCAATGCTACTGGT
TACTACATCTTCCGTGGGGCGAATTCCCAGAAAAACACTTTCCGAAAGAATCCTTCTGAC
CCCAGAGTGGCTGGGCTTGAGACCATCTCTACAGCCACAGGGCGGAAACTGCTGGTGTCT
GGGTGGTGGGGTATGGTCCGCCATCCCAACTATCTTGGAGACCTCATCATGGCTCTGGCT
TGGTCCTTGCCCTGCGGGGTGTCACACCTGCTGCCCTACTTCTACCTCCTCTACTTCACC
GCGCTGCTGGTGCACCGTGAGGCCCGGGATGAGCGGCAGTGCCTGCAGAAGTACGGCCTG
GCCTGGCAGGAGTACTGCCGGCGTGTGCCTTACCGCATCATGCCCTACATCTACTGA
Protein Properties
Number of Residues 418
Molecular Weight 46405.345
Theoretical pI 8.87
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Delta(14)-sterol reductase
MAPTQGPRAPLEFGGPLGAAALLLLLPATMFHLLLAARSGPARLLGPPASLPGLEVLWSP
RALLLWLAWLGLQAALYLLPARKVAEGQELKDKSRLRYPINGFQALVLTALLVGLGMSAG
LPLGALPEMLLPLAFVATLTAFIFSLFLYMKAQVAPVSALAPGGNSGNPIYDFFLGRELN
PRICFFDFKYFCELRPGLIGWVLINLALLMKEAELRGSPSLAMWLVNGFQLLYVGDALWH
EEAVLTTMDITHDGFGFMLAFGDMAWVPFTYSLQAQFLLHHPQPLGLPMASVICLINATG
YYIFRGANSQKNTFRKNPSDPRVAGLETISTATGRKLLVSGWWGMVRHPNYLGDLIMALA
WSLPCGVSHLLPYFYLLYFTALLVHREARDERQCLQKYGLAWQEYCRRVPYRIMPYIY
GenBank ID Protein 117414150
UniProtKB/Swiss-Prot ID O76062
UniProtKB/Swiss-Prot Entry Name ERG24_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_003273.2
GeneCard ID TM7SF2
GenAtlas ID TM7SF2
HGNC ID HGNC:11863
References
General References
  1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Lemmens IH, Kas K, Merregaert J, Van de Ven WJ: Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13. Genomics. 1998 May 1;49(3):437-42. [PubMed:9615229 ]
  4. Holmer L, Pezhman A, Worman HJ: The human lamin B receptor/sterol reductase multigene family. Genomics. 1998 Dec 15;54(3):469-76. [PubMed:9878250 ]
  5. Roberti R, Bennati AM, Galli G, Caruso D, Maras B, Aisa C, Beccari T, Della Fazia MA, Servillo G: Cloning and expression of sterol Delta 14-reductase from bovine liver. Eur J Biochem. 2002 Jan;269(1):283-90. [PubMed:11784322 ]