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Identification
HMDB Protein ID HMDBP03056
Secondary Accession Numbers
  • 8588
Name 3-ketodihydrosphingosine reductase
Synonyms
  1. 3-dehydrosphinganine reductase
  2. FVT-1
  3. Follicular variant translocation protein 1
  4. KDS reductase
Gene Name KDSR
Protein Type Enzyme
Biological Properties
General Function Involved in oxidoreductase activity
Specific Function Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).
Pathways
  • Fabry disease
  • Gaucher Disease
  • Globoid Cell Leukodystrophy
  • Krabbe disease
  • Metachromatic Leukodystrophy (MLD)
  • Sphingolipid Metabolism
  • sphingolipid metabolism
Reactions
Sphinganine + NADP → 3-Dehydrosphinganine + NADPH details
Sphinganine + NADP → 3-Dehydrosphinganine + NADPH + Hydrogen Ion details
GO Classification
Biological Process
3-keto-sphinganine metabolic process
phospholipid metabolic process
sphingolipid biosynthetic process
Cellular Component
endoplasmic reticulum membrane
extracellular space
integral to membrane
Function
binding
catalytic activity
oxidoreductase activity
Molecular Function
3-dehydrosphinganine reductase activity
nucleotide binding
Process
metabolic process
oxidation reduction
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location 18
Locus 18q21.3
SNPs KDSR
Gene Sequence
>999 bp
ATGCTGCTGCTGGCTGCCGCCTTCCTCGTGGCCTTCGTGCTGCTGCTGTACATGGTGTCT
CCGCTCATCAGCCCCAAGCCCCTCGCCCTGCCCGGGGCGCATGTGGTGGTTACAGGAGGT
TCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACT
CTGGTTGCACGAAATGAGGATAAGCTGCTGCAGGCAAAGAAAGAAATTGAAATGCACTCT
ATTAATGACAAACAGGTGGTGCTTTGCATATCAGTTGATGTATCTCAAGACTATAACCAA
GTAGAGAATGTCATAAAACAAGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAAT
TGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAAGG
TTAATGAGCATCAATTACCTGGGCAGCGTGTACCCCAGCCGGGCCGTGATCACCACCATG
AAGGAGCGCCGGGTGGGCAGGATCGTGTTTGTGTCCTCCCAGGCAGGACAGTTGGGATTA
TTCGGTTTCACAGCCTACTCTGCATCCAAGTTTGCCATAAGGGGATTGGCAGAAGCTTTG
CAGATGGAGGTGAAGCCATATAATGTCTACATCACAGTTGCTTACCCACCAGACACAGAC
ACACCTGGCTTTGCCGAAGAAAACAGAACAAAGCCTTTGGAGACTCGACTTATTTCAGAG
ACCACATCTGTGTGCAAACCAGAACAGGTGGCCAAACAAATTGTTAAAGATGCCATACAA
GGAAATTTCAACAGTTCCCTTGGCTCAGATGGGTACATGCTCTCGGCCCTGACCTGTGGG
ATGGCTCCAGTAACTTCTATTACTGAGGGGCTCCAGCAGGTGGTCACCATGGGCCTTTTC
CGCACTATTGCTTTGTTTTACCTTGGAAGTTTTGACAGCATAGTTCGTCGCTGCATGATG
CAGAGAGAAAAATCTGAAAATGCAGACAAAACTGCCTAA
Protein Properties
Number of Residues 332
Molecular Weight 36186.785
Theoretical pI 7.126
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>3-ketodihydrosphingosine reductase
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFIT
LVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVN
CAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGL
FGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISE
TTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLF
RTIALFYLGSFDSIVRRCMMQREKSENADKTA
GenBank ID Protein 296186
UniProtKB/Swiss-Prot ID Q06136
UniProtKB/Swiss-Prot Entry Name KDSR_HUMAN
PDB IDs Not Available
GenBank Gene ID X63657
GeneCard ID KDSR
GenAtlas ID KDSR
HGNC ID HGNC:4021
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. Rimokh R, Gadoux M, Bertheas MF, Berger F, Garoscio M, Deleage G, Germain D, Magaud JP: FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma. Blood. 1993 Jan 1;81(1):136-42. [PubMed:8417785 ]
  4. Kihara A, Igarashi Y: FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane. J Biol Chem. 2004 Nov 19;279(47):49243-50. Epub 2004 Aug 24. [PubMed:15328338 ]