Sequence of HCD2_HUMAN
EC Number:1.1.1.35
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
(S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H+
Other sequences found for EC No. 1.1.1.35
EC Number:1.1.1.53
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
androstan-3alpha,17beta-diol + NAD+ = 17beta-hydroxyandrostan-3-one + NADH + H+
Other sequences found for EC No. 1.1.1.53
EC Number:1.1.1.62
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
17beta-estradiol + NAD(P)+ = estrone + NAD(P)H + H+
Other sequences found for EC No. 1.1.1.62
EC Number:1.1.1.135
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
GDP-6-deoxy-alpha-D-talose + NAD(P)+ = GDP-4-dehydro-alpha-D-rhamnose + NAD(P)H + H+
Other sequences found for EC No. 1.1.1.135
EC Number:1.1.1.159
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
cholate + NAD+ = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholan-24-oate + NADH + H+
Other sequences found for EC No. 1.1.1.159
EC Number:1.1.1.178
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ = 2-methylacetoacetyl-CoA + NADH + H+
Other sequences found for EC No. 1.1.1.178
EC Number:1.1.1.239
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
testosterone + NAD+ = androst-4-ene-3,17-dione + NADH + H+
Other sequences found for EC No. 1.1.1.239
General information:
Sequence
0 MAAACRSVKG LVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ AKKLGNNCVF
60 APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT YNLKKGQTHT LEDFQRVLDV
120 NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI INTASVAAFE GQVGQAAYSA SKGGIVGMTL
180 PIARDLAPIG IRVMTIAPGL FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI
240 IENPFLNGEV IRLDGAIRMQ P
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
170759
Yan S.D.,Fu J.,Soto C.,Chen X.,Zhu H.,Al-Mohanna F.,Collinson K.,Zhu A.,Stern E.,Saido T.,Tohyama M.,Ogawa S.,Roher A.,Stern D.
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Nature
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Miller A.P.,Willard H.F.
Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.
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He X.Y.,Schulz H.,Yang S.Y.
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Ross M.T.,Grafham D.V.,Coffey A.J.,Scherer S.,McLay K.,Muzny D.,Platzer M.,Howell G.R.,Burrows C.,Bird C.P.,Frankish A.,Lovell F.L.,Howe K.L.,Ashurst J.L.,Fulton R.S.,Sudbrak R.,Wen G.,Jones M.C.,Hurles M.E.,Andrews T.D.,Scott C.E.,Searle S.,Ramser J.,Whittaker A.,Deadman R.,Carter N.P.,Hunt S.E.,Chen R.,Cree A.,Gunaratne P.,Havlak P.,Hodgson A.,Metzker M.L.,Richards S.,Scott G.,Steffen D.,Sodergren E.,Wheeler D.A.,Worley K.C.,Ainscough R.,Ambrose K.D.,Ansari-Lari M.A.,Aradhya S.,Ashwell R.I.,Babbage A.K.,Bagguley C.L.,Ballabio A.,Banerjee R.,Barker G.E.,Barlow K.F.,Barrett I.P.,Bates K.N.,Beare D.M.,Beasley H.,Beasley O.,Beck A.,Bethel G.,Blechschmidt K.,Brady N.,Bray-Allen S.,Bridgeman A.M.,Brown A.J.,Brown M.J.,Bonnin D.,Bruford E.A.,Buhay C.,Burch P.,Burford D.,Burgess J.,Burrill W.,Burton J.,Bye J.M.,Carder C.,Carrel L.,Chako J.,Chapman J.C.,Chavez D.,Chen E.,Chen G.,Chen Y.,Chen Z.,Chinault C.,Ciccodicola A.,Clark S.Y.,Clarke G.,Clee C.M.,Clegg S.,Clerc-Blankenburg K.,Clifford K.,Cobley V.,Cole C.G.,Conquer J.S.,Corby N.,Connor R.E.,David R.,Davies J.,Davis C.,Davis J.,Delgado O.,Deshazo D.,Dhami P.,Ding Y.,Dinh H.,Dodsworth S.,Draper H.,Dugan-Rocha S.,Dunham A.,Dunn M.,Durbin K.J.,Dutta I.,Eades T.,Ellwood M.,Emery-Cohen A.,Errington H.,Evans K.L.,Faulkner L.,Francis F.,Frankland J.,Fraser A.E.,Galgoczy P.,Gilbert J.,Gill R.,Gloeckner G.,Gregory S.G.,Gribble S.,Griffiths C.,Grocock R.,Gu Y.,Gwilliam R.,Hamilton C.,Hart E.A.,Hawes A.,Heath P.D.,Heitmann K.,Hennig S.,Hernandez J.,Hinzmann B.,Ho S.,Hoffs M.,Howden P.J.,Huckle E.J.,Hume J.,Hunt P.J.,Hunt A.R.,Isherwood J.,Jacob L.,Johnson D.,Jones S.,de Jong P.J.,Joseph S.S.,Keenan S.,Kelly S.,Kershaw J.K.,Khan Z.,Kioschis P.,Klages S.,Knights A.J.,Kosiura A.,Kovar-Smith C.,Laird G.K.,Langford C.,Lawlor S.,Leversha M.,Lewis L.,Liu W.,Lloyd C.,Lloyd D.M.,Loulseged H.,Loveland J.E.,Lovell J.D.,Lozado R.,Lu J.,Lyne R.,Ma J.,Maheshwari M.,Matthews L.H.,McDowall J.,McLaren S.,McMurray A.,Meidl P.,Meitinger T.,Milne S.,Miner G.,Mistry S.L.,Morgan M.,Morris S.,Mueller I.,Mullikin J.C.,Nguyen N.,Nordsiek G.,Nyakatura G.,O'dell C.N.,Okwuonu G.,Palmer S.,Pandian R.,Parker D.,Parrish J.,Pasternak S.,Patel D.,Pearce A.V.,Pearson D.M.,Pelan S.E.,Perez L.,Porter K.M.,Ramsey Y.,Reichwald K.,Rhodes S.,Ridler K.A.,Schlessinger D.,Schueler M.G.,Sehra H.K.,Shaw-Smith C.,Shen H.,Sheridan E.M.,Shownkeen R.,Skuce C.D.,Smith M.L.,Sotheran E.C.,Steingruber H.E.,Steward C.A.,Storey R.,Swann R.M.,Swarbreck D.,Tabor P.E.,Taudien S.,Taylor T.,Teague B.,Thomas K.,Thorpe A.,Timms K.,Tracey A.,Trevanion S.,Tromans A.C.,d'Urso M.,Verduzco D.,Villasana D.,Waldron L.,Wall M.,Wang Q.,Warren J.,Warry G.L.,Wei X.,West A.,Whitehead S.L.,Whiteley M.N.,Wilkinson J.E.,Willey D.L.,Williams G.,Williams L.,Williamson A.,Williamson H.,Wilming L.,Woodmansey R.L.,Wray P.W.,Yen J.,Zhang J.,Zhou J.,Zoghbi H.,Zorilla S.,Buck D.,Reinhardt R.,Poustka A.,Rosenthal A.,Lehrach H.,Meindl A.,Minx P.J.,Hillier L.W.,Willard H.F.,Wilson R.K.,Waterston R.H.,Rice C.M.,Vaudin M.,Coulson A.,Nelson D.L.,Weinstock G.,Sulston J.E.,Durbin R.M.,Hubbard T.,Gibbs R.A.,Beck S.,Rogers J.,Bentley D.R.
The DNA sequence of the human X chromosome.
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2005
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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He X.Y.,Yang Y.Z.,Schulz H.,Yang S.Y.
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Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD.
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Holzmann J.,Frank P.,Loeffler E.,Bennett K.L.,Gerner C.,Rossmanith W.
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Cell
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2008
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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.
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17-17
2011
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Vilardo E.,Nachbagauer C.,Buzet A.,Taschner A.,Holzmann J.,Rossmanith W.
A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.
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Bogenhagen D.F.,Martin D.W.,Koller A.
Initial steps in RNA processing and ribosome assembly occur at mitochondrial DNA nucleoids.
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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.
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2014
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Boynton T.O.,Shimkets L.J.
Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.
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29
1903-1914
2015
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Chatfield K.C.,Coughlin C.R. II,Friederich M.W.,Gallagher R.C.,Hesselberth J.R.,Lovell M.A.,Ofman R.,Swanson M.A.,Thomas J.A.,Wanders R.J.,Wartchow E.P.,Van Hove J.L.
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
Mitochondrion
21
1-10
2015
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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
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Reinhard L.,Sridhara S.,Haellberg B.M.
The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria.
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45
12469-12480
2017
170780
Kissinger C.R.,Rejto P.A.,Pelletier L.A.,Thomson J.A.,Showalter R.E.,Abreo M.A.,Agree C.S.,Margosiak S.,Meng J.J.,Aust R.M.,Vanderpool D.,Li B.,Tempczyk-Russell A.,Villafranca J.E.
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342
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2004
170781
Lustbader J.W.,Cirilli M.,Lin C.,Xu H.W.,Takuma K.,Wang N.,Caspersen C.,Chen X.,Pollak S.,Chaney M.,Trinchese F.,Liu S.,Gunn-Moore F.,Lue L.-F.,Walker D.G.,Kuppusamy P.,Zewier Z.L.,Arancio O.,Stern D.,Yan S.-S.,Wu H.
ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.
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304
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2004
170782
Rauschenberger K.,Schoeler K.,Sass J.O.,Sauer S.,Djuric Z.,Rumig C.,Wolf N.I.,Okun J.G.,Koelker S.,Schwarz H.,Fischer C.,Grziwa B.,Runz H.,Nuemann A.,Shafqat N.,Kavanagh K.L.,Haemmerling G.,Wanders R.J.,Shield J.P.,Wendel U.,Stern D.,Nawroth P.,Hoffmann G.F.,Bartram C.R.,Arnold B.,Bierhaus A.,Oppermann U.,Steinbeisser H.,Zschocke J.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
EMBO Mol. Med.
2
51-62
2010
170783
Ofman R.,Ruiter J.P.N.,Feenstra M.,Duran M.,Poll-The B.T.,Zschocke J.,Ensenauer R.,Lehnert W.,Sass J.O.,Sperl W.,Wanders R.J.A.
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
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72
1300-1307
2003
170784
Perez-Cerda C.,Garcia-Villoria J.,Ofman R.,Sala P.R.,Merinero B.,Ramos J.,Garcia-Silva M.T.,Beseler B.,Dalmau J.,Wanders R.J.A.,Ugarte M.,Ribes A.
2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Pediatr. Res.
58
488-491
2005
170786
Garcia-Villoria J.,Navarro-Sastre A.,Fons C.,Perez-Cerda C.,Baldellou A.,Fuentes-Castello M.A.,Gonzalez I.,Hernandez-Gonzalez A.,Fernandez C.,Campistol J.,Delpiccolo C.,Cortes N.,Messeguer A.,Briones P.,Ribes A.
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
Clin. Biochem.
42
27-33
2009
170787
Yang S.Y.,He X.Y.,Olpin S.E.,Sutton V.R.,McMenamin J.,Philipp M.,Denman R.B.,Malik M.
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
Proc. Natl. Acad. Sci. U.S.A.
106
14820-14824
2009
170788
Seaver L.H.,He X.Y.,Abe K.,Cowan T.,Enns G.M.,Sweetman L.,Philipp M.,Lee S.,Malik M.,Yang S.Y.
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
PLoS ONE
6
0-0
2011
170789
Deutschmann A.J.,Amberger A.,Zavadil C.,Steinbeisser H.,Mayr J.A.,Feichtinger R.G.,Oerum S.,Yue W.W.,Zschocke J.
Mutation or knock-down of 17beta-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Hum. Mol. Genet.
23
3618-3628
2014
170790
Vilardo E.,Rossmanith W.
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
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43
5112-5119
2015
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Falk M.J.,Gai X.,Shigematsu M.,Vilardo E.,Takase R.,McCormick E.,Christian T.,Place E.,Pierce E.A.,Consugar M.,Gamper H.B.,Rossmanith W.,Hou Y.M.
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2016
170792
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Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Biochim. Biophys. Acta
1863
3294-3302
2017
