LOCUS NP_000178 445 aa linear PRI 22-OCT-2008
DEFINITION homogentisate 1,2-dioxygenase [Homo sapiens].
ACCESSION NP_000178 XP_001123365 XP_001125853 XP_001125869 XP_001125882
XP_935776
VERSION NP_000178.2 GI:115527117
DBSOURCE REFSEQ: accession NM_000187.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 445)
AUTHORS Ladjouze-Rezig,A., Rodriguez de Cordoba,S. and Aquaron,R.
TITLE Ochronotic rheumatism in Algeria: clinical, radiological,
biological and molecular studies--a case study of 14 patients in 11
families
JOURNAL Joint Bone Spine 73 (3), 284-292 (2006)
PUBMED 16085442
REMARK GeneRIF: Four different mutations of the HGD gene were found in
alkaptonuria and ochronotic arthropathy diagnoses.
REFERENCE 2 (residues 1 to 445)
AUTHORS Uyguner,O., Goicoechea de Jorge,E., Cefle,A., Baykal,T.,
Kayserili,H., Cefle,K., Demirkol,M., Yuksel-Apak,M., Rodriguez de
Cordoba,S. and Wollnik,B.
TITLE Molecular analyses of the HGO gene mutations in Turkish
alkaptonuria patients suggest that the R58fs mutation originated
from central Asia and was spread throughout Europe and Anatolia by
human migrations
JOURNAL J. Inherit. Metab. Dis. 26 (1), 17-23 (2003)
PUBMED 12872836
REMARK GeneRIF: Turkish mutation shares an homogentisate 1,2-dioxygenase
haplotype with the mutation found in Finland, Slovakia and India,
suggesting that R58fs is an old alkaptonuria mutation that probably
originated in central Asia
REFERENCE 3 (residues 1 to 445)
AUTHORS Titus,G.P., Mueller,H.A., Burgner,J., Rodriguez De Cordoba,S.,
Penalva,M.A. and Timm,D.E.
TITLE Crystal structure of human homogentisate dioxygenase
JOURNAL Nat. Struct. Biol. 7 (7), 542-546 (2000)
PUBMED 10876237
REFERENCE 4 (residues 1 to 445)
AUTHORS Beltran-Valero de Bernabe,D., Peterson,P., Luopajarvi,K.,
Matintalo,P., Alho,A., Konttinen,Y., Krohn,K., Rodriguez de
Cordoba,S. and Ranki,A.
TITLE Mutational analysis of the HGO gene in Finnish alkaptonuria
patients
JOURNAL J. Med. Genet. 36 (12), 922-923 (1999)
PUBMED 10594001
REFERENCE 5 (residues 1 to 445)
AUTHORS Muller,C.R., Fregin,A., Srsen,S., Srsnova,K., Halliger-Keller,B.,
Felbor,U., Seemanova,E. and Kress,W.
TITLE Allelic heterogeneity of alkaptonuria in Central Europe
JOURNAL Eur. J. Hum. Genet. 7 (6), 645-651 (1999)
PUBMED 10482952
REFERENCE 6 (residues 1 to 445)
AUTHORS Schmidt,S.R., Gehrig,A., Koehler,M.R., Schmid,M., Muller,C.R. and
Kress,W.
TITLE Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme
of alkaptonuria in mouse
JOURNAL Mamm. Genome 8 (3), 168-171 (1997)
PUBMED 9069115
REFERENCE 7 (residues 1 to 445)
AUTHORS Fernandez-Canon,J.M., Granadino,B., Beltran-Valero de Bernabe,D.,
Renedo,M., Fernandez-Ruiz,E., Penalva,M.A. and Rodriguez de
Cordoba,S.
TITLE The molecular basis of alkaptonuria
JOURNAL Nat. Genet. 14 (1), 19-24 (1996)
PUBMED 8782815
REFERENCE 8 (residues 1 to 445)
AUTHORS Hudecova,S., Strakova,Z. and Krizanova,O.
TITLE Purification of the homogentisic acid oxidase from mammalian liver
JOURNAL Int. J. Biochem. Cell Biol. 27 (12), 1357-1363 (1995)
PUBMED 8581831
REFERENCE 9 (residues 1 to 445)
AUTHORS Janocha,S., Wolz,W., Srsen,S., Srsnova,K., Montagutelli,X.,
Guenet,J.L., Grimm,T., Kress,W. and Muller,C.R.
TITLE The human gene for alkaptonuria (AKU) maps to chromosome 3q
JOURNAL Genomics 19 (1), 5-8 (1994)
PUBMED 8188241
REFERENCE 10 (residues 1 to 445)
AUTHORS Pollak,M.R., Chou,Y.H., Cerda,J.J., Steinmann,B., La Du,B.N.,
Seidman,J.G. and Seidman,C.E.
TITLE Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
JOURNAL Nat. Genet. 5 (2), 201-204 (1993)
PUBMED 8252048
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA872983.1, AF045167.1,
AC133474.2 and AC126182.2.
On or before Jan 27, 2007 this sequence version replaced
gi:113414571, gi:4504381.
Summary: Homogentisate 1,2-dioxygenase (HGD) gene mutations are the
molecular cause of alkaptonuria, a rare hereditary disorder of the
phenylalanine catabolism. The highest expression of HGD is in the
prostate, small intestine, colon, and liver. The HGD gene contains
14 exons. Conflicting reports have placed the gene at 3q2,
3q13.3-q21, 3q21-q24, 3q21-q23, or 3q25-q26. [provided by RefSeq].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..445
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q13.33"
Protein 1..445
/product="homogentisate 1,2-dioxygenase"
/EC_number="1.13.11.5"
/note="homogentisicase"
/calculated_mol_wt=49833
CDS 1..445
/gene="HGD"
/gene_synonym="AKU"
/gene_synonym="HGO"
/coded_by="NM_000187.2:371..1708"
/db_xref="CCDS:CCDS3000.1"
/db_xref="GeneID:3081"
/db_xref="HGNC:4892"
/db_xref="HPRD:06315"
/db_xref="MIM:607474"
ORIGIN
1 maelkyisgf gnecssedpr cpgslpegqn npqvcpynly aeqlsgsaft cprstnkrsw
61 lyrilpsvsh kpfesidegq vthnwdevdp dpnqlrwkpf eipkasqkkv dfvsglhtlc
121 gagdiksnng laihiflcnt smenrcfyns dgdflivpqk gnlliytefg kmlvqpneic
181 viqrgmrfsi dvfeetrgyi levygvhfel pdlgpigang lanprdflip iawyedrqvp
241 ggytvinkyq gklfaakqdv spfnvvawhg nytpykynlk nfmvinsvaf dhadpsiftv
301 ltaksvrpgv aiadfvifpp rwgvadktfr ppyyhrncms efmglirghy eakqggflpg
361 ggslhstmtp hgpdadcfek askvklaper iadgtmafmf esslslavtk wglkasrcld
421 enyhkcwepl kshftpnsrn paepn
//