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Sequence of DHSO_HUMAN

EC Number:1.1.1.4

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
(R,R)-butanediol dehydrogenase
Q00796
Homo sapiens
357
38325
Reaction
(R,R)-butane-2,3-diol + NAD+ = (R)-acetoin + NADH + H+
Other sequences found for EC No. 1.1.1.4

General information:

Sequence
show sequence in fasta format
  0 MAAAAKPNNL SLVVHGPGDL RLENYPIPEP GPNEVLLRMH SVGICGSDVH YWEYGRIGNF
 60 IVKKPMVLGH EASGTVEKVG SSVKHLKPGD RVAIEPGAPR ENDEFCKMGR YNLSPSIFFC
120 ATPPDDGNLC RFYKHNAAFC YKLPDNVTFE EGALIEPLSV GIHACRRGGV TLGHKVLVCG
180 AGPIGMVTLL VAKAMGAAQV VVTDLSATRL SKAKEIGADL VLQISKESPQ EIARKVEGQL
240 GCKPEVTIEC TGAEASIQAG IYATRSGGNL VLVGLGSEMT TVPLLHAAIR EVDIKGVFRY
300 CNTWPVAISM LASKSVNVKP LVTHRFPLEK ALEAFETFKK GLGLKIMLKC DPSDQNP
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
409777
Lee F.K.,Cheung M.C.,Chung S.
The human sorbitol dehydrogenase gene: cDNA cloning, sequence determination, and mapping by fluorescence in situ hybridization.
Genomics
21
354-358
1994
409778
Iwata T.,Popescu N.C.,Zimonjic D.B.,Karlsson C.,Hoeoeg J.-O.,Vaca G.,Rodriguez I.R.,Carper D.
Structural organization of the human sorbitol dehydrogenase gene (SORD).
Genomics
26
55-62
1995
409779
Carr I.M.,Markham A.F.,Coletta P.L.
Identification and characterisation of a sequence related to human sorbitol dehydrogenase.
Eur. J. Biochem.
245
760-767
1997
409780
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 T.-O.,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.
36
40-45
2004
409781
Zody M.C.,Garber M.,Sharpe T.,Young S.K.,Rowen L.,O'Neill K.,Whittaker C.A.,Kamal M.,Chang J.L.,Cuomo C.A.,Dewar K.,FitzGerald M.G.,Kodira C.D.,Madan A.,Qin S.,Yang X.,Abbasi N.,Abouelleil A.,Arachchi H.M.,Baradarani L.,Birditt B.,Bloom S.,Bloom T.,Borowsky M.L.,Burke J.,Butler J.,Cook A.,DeArellano K.,DeCaprio D.,Dorris L. III,Dors M.,Eichler E.E.,Engels R.,Fahey J.,Fleetwood P.,Friedman C.,Gearin G.,Hall J.L.,Hensley G.,Johnson E.,Jones C.,Kamat A.,Kaur A.,Locke D.P.,Madan A.,Munson G.,Jaffe D.B.,Lui A.,Macdonald P.,Mauceli E.,Naylor J.W.,Nesbitt R.,Nicol R.,O'Leary S.B.,Ratcliffe A.,Rounsley S.,She X.,Sneddon K.M.B.,Stewart S.,Sougnez C.,Stone S.M.,Topham K.,Vincent D.,Wang S.,Zimmer A.R.,Birren B.W.,Hood L.,Lander E.S.,Nusbaum C.
Analysis of the DNA sequence and duplication history of human chromosome 15.
Nature
440
671-675
2006
409782
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
409783
Karlsson C.,Maret W.,Auld D.S.,Hoeoeg J.-O.,Joernvall H.
Variability within mammalian sorbitol dehydrogenases. The primary structure of the human liver enzyme.
Eur. J. Biochem.
186
543-550
1989
409784
Gevaert K.,Goethals M.,Martens L.,Van Damme J.,Staes A.,Thomas G.R.,Vandekerckhove J.
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
Nat. Biotechnol.
21
566-569
2003
409785
Maret W.,Auld D.S.
Purification and characterization of human liver sorbitol dehydrogenase.
Biochemistry
27
1622-1628
1988
409786
Frenette G.,Thabet M.,Sullivan R.
Polyol pathway in human epididymis and semen.
J. Androl.
27
233-239
2006
409787
Gauci S.,Helbig A.O.,Slijper M.,Krijgsveld J.,Heck A.J.,Mohammed S.
Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Anal. Chem.
81
4493-4501
2009
409788
Szabo Z.,Hamalainen J.,Loikkanen I.,Moilanen A.M.,Hirvikoski P.,Vaisanen T.,Paavonen T.K.,Vaarala M.H.
Sorbitol dehydrogenase expression is regulated by androgens in the human prostate.
Oncol. Rep.
23
1233-1239
2010
409789
Lanaspa M.A.,Andres-Hernando A.,Rivard C.J.,Dai Y.,Li N.,Berl T.
ZAC1 is up-regulated by hypertonicity and decreases sorbitol dehydrogenase expression, allowing accumulation of sorbitol in kidney cells.
J. Biol. Chem.
284
19974-19981
2009
409790
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
409791
Safi S.Z.,Qvist R.,Kumar S.,Batumalaie K.,Ismail I.S.
Molecular mechanisms of diabetic retinopathy, general preventive strategies, and novel therapeutic targets.
Biomed. Res. Int.
2014
801269-801269
2014
409792
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
96
253-262
2014
409793
Vaca Jacome A.S.,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
15
2519-2524
2015
409794
Dewanjee S.,Das S.,Das A.K.,Bhattacharjee N.,Dihingia A.,Dua T.K.,Kalita J.,Manna P.
Molecular mechanism of diabetic neuropathy and its pharmacotherapeutic targets.
Eur. J. Pharmacol.
833
472-523
2018
409795
Pauly T.A.,Ekstrom J.L.,Beebe D.A.,Chrunyk B.,Cunningham D.,Griffor M.,Kamath A.,Lee S.E.,Madura R.,Mcguire D.,Subashi T.,Wasilko D.,Watts P.,Mylari B.L.,Oates P.J.,Adams P.D.,Rath V.L.
X-ray crystallographic and kinetic studies of human sorbitol dehydrogenase.
Structure
11
1071-1085
2003
409796
Cortese A.,Zhu Y.,Rebelo A.P.,Negri S.,Courel S.,Abreu L.,Bacon C.J.,Bai Y.,Bis-Brewer D.M.,Bugiardini E.,Buglo E.,Danzi M.C.,Feely S.M.E.,Athanasiou-Fragkouli A.,Haridy N.A.,Isasi R.,Khan A.,Laura M.,Magri S.,Pipis M.,Pisciotta C.,Powell E.,Rossor A.M.,Saveri P.,Sowden J.E.,Tozza S.,Vandrovcova J.,Dallman J.,Grignani E.,Marchioni E.,Scherer S.S.,Tang B.,Lin Z.,Al-Ajmi A.,Schuele R.,Synofzik M.,Maisonobe T.,Stojkovic T.,Auer-Grumbach M.,Abdelhamed M.A.,Hamed S.A.,Zhang R.,Manganelli F.,Santoro L.,Taroni F.,Pareyson D.,Houlden H.,Herrmann D.N.,Reilly M.M.,Shy M.E.,Zhai R.G.,Zuchner S.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat. Genet.
52
473-481
2020
409797
Cortese A.,Zhu Y.,Rebelo A.P.,Negri S.,Courel S.,Abreu L.,Bacon C.J.,Bai Y.,Bis-Brewer D.M.,Bugiardini E.,Buglo E.,Danzi M.C.,Feely S.M.E.,Athanasiou-Fragkouli A.,Haridy N.A.,Isasi R.,Khan A.,Laura M.,Magri S.,Pipis M.,Pisciotta C.,Powell E.,Rossor A.M.,Saveri P.,Sowden J.E.,Tozza S.,Vandrovcova J.,Dallman J.,Grignani E.,Marchioni E.,Scherer S.S.,Tang B.,Lin Z.,Al-Ajmi A.,Schuele R.,Synofzik M.,Maisonobe T.,Stojkovic T.,Auer-Grumbach M.,Abdelhamed M.A.,Hamed S.A.,Zhang R.,Manganelli F.,Santoro L.,Taroni F.,Pareyson D.,Houlden H.,Herrmann D.N.,Reilly M.M.,Shy M.E.,Zhai R.G.,Zuchner S.
Nat. Genet.
52
640-640
2020
409798
Yuan R.Y.,Ye Z.L.,Zhang X.R.,Xu L.Q.,He J.
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Ann. Clin. Transl. Neurol.
8
266-270
2021
409799
Dong H.L.,Li J.Q.,Liu G.L.,Yu H.,Wu Z.Y.
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.
NPJ Genom. Med.
6
1-1
2021