Sequence of HGD_HUMAN
EC Number:1.13.11.5
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
homogentisate + O2 = 4-maleylacetoacetate
Other sequences found for EC No. 1.13.11.5
General information:
Sequence
0 MAELKYISGF GNECSSEDPR CPGSLPEGQN NPQVCPYNLY AEQLSGSAFT CPRSTNKRSW
60 LYRILPSVSH KPFESIDEGQ VTHNWDEVDP DPNQLRWKPF EIPKASQKKV DFVSGLHTLC
120 GAGDIKSNNG LAIHIFLCNT SMENRCFYNS DGDFLIVPQK GNLLIYTEFG KMLVQPNEIC
180 VIQRGMRFSI DVFEETRGYI LEVYGVHFEL PDLGPIGANG LANPRDFLIP IAWYEDRQVP
240 GGYTVINKYQ GKLFAAKQDV SPFNVVAWHG NYTPYKYNLK NFMVINSVAF DHADPSIFTV
300 LTAKSVRPGV AIADFVIFPP RWGVADKTFR PPYYHRNCMS EFMGLIRGHY EAKQGGFLPG
360 GGSLHSTMTP HGPDADCFEK ASKVKLAPER IADGTMAFMF ESSLSLAVTK WGLKASRCLD
420 ENYHKCWEPL KSHFTPNSRN PAEPN
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
427409
Fernandez-Canon J.M.,Granadino B.,Beltran-Valero de Bernabe D.,Renedo M.,Fernandez-Ruiz E.,Penalva M.A.,Rodriguez de Cordoba S.
The molecular basis of alkaptonuria.
Nat. Genet.
14
19-24
1996
427411
Granadino B.,Beltran-Valero de Bernabe D.,Fernandez-Canon J.M.,Penalva M.A.,Rodriguez de Cordoba S.
The human homogentisate 1,2-dioxygenase (HGO) gene.
Genomics
43
115-122
1997
427412
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
427413
Muzny D.M.,Scherer S.E.,Kaul R.,Wang J.,Yu J.,Sudbrak R.,Buhay C.J.,Chen R.,Cree A.,Ding Y.,Dugan-Rocha S.,Gill R.,Gunaratne P.,Harris R.A.,Hawes A.C.,Hernandez J.,Hodgson A.V.,Hume J.,Jackson A.,Khan Z.M.,Kovar-Smith C.,Lewis L.R.,Lozado R.J.,Metzker M.L.,Milosavljevic A.,Miner G.R.,Morgan M.B.,Nazareth L.V.,Scott G.,Sodergren E.,Song X.-Z.,Steffen D.,Wei S.,Wheeler D.A.,Wright M.W.,Worley K.C.,Yuan Y.,Zhang Z.,Adams C.Q.,Ansari-Lari M.A.,Ayele M.,Brown M.J.,Chen G.,Chen Z.,Clendenning J.,Clerc-Blankenburg K.P.,Chen R.,Chen Z.,Davis C.,Delgado O.,Dinh H.H.,Dong W.,Draper H.,Ernst S.,Fu G.,Gonzalez-Garay M.L.,Garcia D.K.,Gillett W.,Gu J.,Hao B.,Haugen E.,Havlak P.,He X.,Hennig S.,Hu S.,Huang W.,Jackson L.R.,Jacob L.S.,Kelly S.H.,Kube M.,Levy R.,Li Z.,Liu B.,Liu J.,Liu W.,Lu J.,Maheshwari M.,Nguyen B.-V.,Okwuonu G.O.,Palmeiri A.,Pasternak S.,Perez L.M.,Phelps K.A.,Plopper F.J.,Qiang B.,Raymond C.,Rodriguez R.,Saenphimmachak C.,Santibanez J.,Shen H.,Shen Y.,Subramanian S.,Tabor P.E.,Verduzco D.,Waldron L.,Wang J.,Wang J.,Wang Q.,Williams G.A.,Wong G.K.-S.,Yao Z.,Zhang J.,Zhang X.,Zhao G.,Zhou J.,Zhou Y.,Nelson D.,Lehrach H.,Reinhardt R.,Naylor S.L.,Yang H.,Olson M.,Weinstock G.,Gibbs R.A.
The DNA sequence, annotation and analysis of human chromosome 3.
Nature
440
1194-1198
2006
427415
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
427416
Choudhary C.,Kumar C.,Gnad F.,Nielsen M.L.,Rehman M.,Walther T.C.,Olsen J.V.,Mann M.
Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Science
325
834-840
2009
427417
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
427418
Titus G.P.,Mueller H.A.,Burgner J.,Rodriguez de Cordoba S.,Penalva M.A.,Timm D.E.
Crystal structure of human homogentisate dioxygenase.
Nat. Struct. Biol.
7
542-546
2000
427419
Gehrig A.,Schmidt S.R.,Mueller C.R.,Srsen S.,Srsnova K.,Kress W.
Molecular defects in alkaptonuria.
Cytogenet. Cell Genet.
76
14-16
1997
427420
Beltran-Valero de Bernabe D.,Granadino B.,Chiarelli I.,Porfirio B.,Mayatepek E.,Aquaron R.,Moore M.M.,Festen J.J.M.,Sanmarti R.,Penalva M.A.,de Cordoba S.R.
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Am. J. Hum. Genet.
62
776-784
1998
427421
Higashino K.,Liu W.,Ohkawa T.,Yamamoto T.,Fukui K.,Ohno M.,Imanishi H.,Iwasaki A.,Amuro Y.,Hada T.
A novel point mutation associated with alkaptonuria.
Clin. Genet.
53
228-229
1998
427422
Beltran-Valero de Bernabe D.,Jimenez F.J.,Aquaron R.,Rodriguez de Cordoba S.
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
Am. J. Hum. Genet.
64
1316-1322
1999
427423
Felbor U.,Mutsch Y.,Grehn F.,Mueller C.R.,Kress W.
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Br. J. Ophthalmol.
83
680-683
1999
427424
Mueller C.R.,Fregin A.,Srsen S.,Srsnova K.,Halliger-Keller B.,Felbor U.,Seemanova E.,Kress W.
Allelic heterogeneity of alkaptonuria in Central Europe.
Eur. J. Hum. Genet.
7
645-651
1999
427425
Beltran-Valero de Bernabe D.,Peterson P.,Luopajarvi K.,Matintalo P.,Alho A.,Konttinen Y.,Krohn K.,Rodriguez de Cordoba S.,Ranki A.
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
J. Med. Genet.
36
922-923
1999
427426
Vilboux T.,Kayser M.,Introne W.,Suwannarat P.,Bernardini I.,Fischer R.,O'Brien K.,Kleta R.,Huizing M.,Gahl W.A.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Hum. Mutat.
30
1611-1619
2009
427427
Zatkova A.,Sedlackova T.,Radvansky J.,Polakova H.,Nemethova M.,Aquaron R.,Dursun I.,Usher J.L.,Kadasi L.
Identification of 11 novel homogentisate 1,2 dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database.
JIMD Rep.
4
55-65
2012
427428
Al-sbou M.
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Rheumatol. Int.
32
1741-1746
2012
427429
Yang Y.J.,Guo J.H.,Chen W.J.,Zhao R.,Tang J.S.,Meng X.H.,Zhao L.,Tu M.,He X.Y.,Wu L.Q.,Zhu Y.M.
First report of HGD mutations in a Chinese with alkaptonuria.
Gene
518
467-469
2013
427430
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
427431
Usher J.L.,Ascher D.B.,Pires D.E.,Milan A.M.,Blundell T.L.,Ranganath L.R.
Analysis of HGD gene mutations in patients with alkaptonuria from the United Kingdom: identification of novel mutations.
JIMD Rep.
24
3-11
2015
