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
homogentisate 1,2-dioxygenase
Q93099
Homo sapiens
445
49964
Reaction
homogentisate + O2 = 4-maleylacetoacetate
Other sequences found for EC No. 1.13.11.5

General information:

Sequence
show sequence in fasta format
  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 related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
1171955
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
1171957
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
1171958
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
1171959
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
1171961
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
1171962
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
1171963
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
1171964
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
1171965
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
1171966
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
1171967
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
1171968
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
1171969
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
1171970
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
1171971
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
1171972
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
1171973
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
1171974
Al-sbou M.
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Rheumatol. Int.
32
1741-1746
2012
1171975
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
1171976
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
1171977
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