HGD
entrez
3081
canonical
uniprot
Q93099
canonical
ensembl
ENSG00000113924
resolver
ensp
ENSP00000283871
resolver
ensp
ENSP00000568890
resolver
ensp
ENSP00000656788
resolver
ensp
ENSP00000656792
resolver
ensp
ENSP00000656797
resolver
ensp
ENSP00000656802
resolver
ensp
ENSP00000656803
resolver
enst
ENST00000283871
resolver
genesymbol
HGD
resolver
genesymbol_syn
HGO
resolver
hgnc
HGNC:4892
resolver
uniprot
A8K417
resolver
uniprot
B2R8Z0
resolver
uniprot
B3KW64
resolver
uniprot_entry
B3KW64_HUMAN
resolver
uniprot_entry
HGD_HUMAN
resolver
uniprot_sec
A8K417
resolver
uniprot_sec
B2R8Z0
resolver
amino_acid_sequence
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
uniprot
proteins
disease_involvement
DISEASE: Alkaptonuria (AKU) [MIM:203500]: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. {ECO:0000269|PubMed:10205262, ECO:0000269|PubMed:10340975, ECO:0000269|PubMed:10482952, ECO:0000269|PubMed:10594001, ECO:0000269|PubMed:19862842, ECO:0000269|PubMed:21437689, ECO:0000269|PubMed:23353776, ECO:0000269|PubMed:23430897, ECO:0000269|PubMed:25681086, ECO:0000269|PubMed:8782815, ECO:0000269|PubMed:9154114, ECO:0000269|PubMed:9529363, ECO:0000269|PubMed:9630082}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.13.11.5
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of homogentisate to maleylacetoacetate. {ECO:0000269|PubMed:8782815}.
uniprot
proteins
mass_dalton
49964
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
uniprot
proteins
protein_family
Homogentisate dioxygenase family
uniprot
proteins
pubmed
10205262
uniprot
proteins
pubmed
10340975
uniprot
proteins
pubmed
10482952
uniprot
proteins
pubmed
10594001
uniprot
proteins
pubmed
10876237
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19862842
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21437689
uniprot
proteins
pubmed
23353776
uniprot
proteins
pubmed
23430897
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25681086
uniprot
proteins
pubmed
8782815
uniprot
proteins
pubmed
9154114
uniprot
proteins
pubmed
9244427
uniprot
proteins
pubmed
9529363
uniprot
proteins
pubmed
9630082
uniprot
proteins
sequence_length
445
uniprot
proteins