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Protein

Homogentisate 1,2-dioxygenase

Gene

HGD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

Homogentisate + O2 = 4-maleylacetoacetate.

Cofactori

Pathwayi: L-phenylalanine degradation

This protein is involved in step 4 of the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine.
Proteins known to be involved in the 6 steps of the subpathway in this organism are:
  1. Phenylalanine-4-hydroxylase (PAH)
  2. Tyrosine aminotransferase (TAT)
  3. 4-hydroxyphenylpyruvate dioxygenase (HPD)
  4. Homogentisate 1,2-dioxygenase (HGD)
  5. Maleylacetoacetate isomerase (GSTZ1)
  6. Fumarylacetoacetase (FAH)
This subpathway is part of the pathway L-phenylalanine degradation, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine, the pathway L-phenylalanine degradation and in Amino-acid degradation.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi335 – 3351Iron
Metal bindingi341 – 3411Iron
Metal bindingi371 – 3711Iron

GO - Molecular functioni

GO - Biological processi

  • L-phenylalanine catabolic process Source: Reactome
  • tyrosine catabolic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Dioxygenase, Oxidoreductase

Keywords - Biological processi

Phenylalanine catabolism, Tyrosine catabolism

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS03728-MONOMER.
BRENDAi1.13.11.5. 2681.
ReactomeiR-HSA-71182. Phenylalanine and tyrosine catabolism.
UniPathwayiUPA00139; UER00339.

Names & Taxonomyi

Protein namesi
Recommended name:
Homogentisate 1,2-dioxygenase (EC:1.13.11.5)
Alternative name(s):
Homogentisate oxygenase
Homogentisic acid oxidase
Homogentisicase
Gene namesi
Name:HGD
Synonyms:HGO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:4892. HGD.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Alkaptonuria (AKU)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:203500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31E → A in AKU. 1 Publication
Corresponds to variant rs200412910 [ dbSNP | Ensembl ].
VAR_073076
Natural varianti13 – 131E → K in AKU. 1 Publication
VAR_073077
Natural varianti18 – 181D → N in AKU. 1 Publication
VAR_073078
Natural varianti25 – 251L → P in AKU. 2 Publications
VAR_009618
Natural varianti33 – 331Q → R in AKU. 1 Publication
VAR_073079
Natural varianti42 – 421E → A in AKU. 3 Publications
Corresponds to variant rs373921680 [ dbSNP | Ensembl ].
VAR_005272
Natural varianti44 – 441L → F in AKU. 1 Publication
VAR_073080
Natural varianti53 – 531R → Q in AKU. 1 Publication
Corresponds to variant rs200808744 [ dbSNP | Ensembl ].
VAR_073081
Natural varianti60 – 601W → G in AKU. 2 Publications
VAR_005273
Natural varianti61 – 611L → P in AKU. 1 Publication
VAR_073082
Natural varianti62 – 621Y → C in AKU. 2 Publications
VAR_005274
Natural varianti73 – 731F → L in AKU. 1 Publication
VAR_073083
Natural varianti92 – 921P → T in AKU. 1 Publication
VAR_073084
Natural varianti97 – 971W → G in AKU. 1 Publication
VAR_005275
Natural varianti97 – 971W → R in AKU. 1 Publication
VAR_073085
Natural varianti115 – 1151G → R in AKU. 2 Publications
Corresponds to variant rs755734596 [ dbSNP | Ensembl ].
VAR_073086
Natural varianti116 – 1161L → P in AKU. 1 Publication
Corresponds to variant rs569846003 [ dbSNP | Ensembl ].
VAR_073087
Natural varianti120 – 1201C → F in AKU. 2 Publications
Corresponds to variant rs752153829 [ dbSNP | Ensembl ].
VAR_073088
Natural varianti120 – 1201C → W in AKU. 1 Publication
Corresponds to variant rs149165166 [ dbSNP | Ensembl ].
VAR_073089
Natural varianti122 – 1221A → D in AKU. 1 Publication
VAR_005276
Natural varianti122 – 1221A → V in AKU. 1 Publication
Corresponds to variant rs544956641 [ dbSNP | Ensembl ].
VAR_073090
Natural varianti123 – 1231G → A in AKU. 1 Publication
Corresponds to variant rs374473331 [ dbSNP | Ensembl ].
VAR_073091
Natural varianti123 – 1231G → R in AKU. 2 Publications
Corresponds to variant rs564979861 [ dbSNP | Ensembl ].
VAR_073092
Natural varianti137 – 1371L → P in AKU. 1 Publication
VAR_073093
Natural varianti152 – 1521G → A in AKU. 1 Publication
VAR_073094
Natural varianti153 – 1531D → G in AKU. 1 Publication
VAR_005277
Natural varianti158 – 1581P → L in AKU. 1 Publication
Corresponds to variant rs375396766 [ dbSNP | Ensembl ].
VAR_073095
Natural varianti161 – 1611G → R in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients. 4 Publications
Corresponds to variant rs28941783 [ dbSNP | Ensembl ].
VAR_005278
Natural varianti168 – 1681E → D in AKU. 1 Publication
Corresponds to variant rs780173554 [ dbSNP | Ensembl ].
VAR_073096
Natural varianti168 – 1681E → K in AKU; loss of activity. 2 Publications
Corresponds to variant rs375283568 [ dbSNP | Ensembl ].
VAR_009619
Natural varianti169 – 1691F → L in AKU. 2 Publications
Corresponds to variant rs756134838 [ dbSNP | Ensembl ].
VAR_073097
Natural varianti171 – 1711K → N in AKU. 1 Publication
VAR_073098
Natural varianti178 – 1781E → G in AKU. 1 Publication
VAR_073100
Natural varianti183 – 1831Q → R in AKU. 1 Publication
VAR_073101
Natural varianti187 – 1871R → G in AKU. 1 Publication
VAR_073102
Natural varianti189 – 1891S → I in AKU. 1 Publication
VAR_005279
Natural varianti197 – 1971R → G in AKU. 2 Publications
VAR_073103
Natural varianti216 – 2161I → T in AKU. 1 Publication
Corresponds to variant rs767201131 [ dbSNP | Ensembl ].
VAR_005280
Natural varianti217 – 2171G → W in AKU. 1 Publication
VAR_073104
Natural varianti219 – 2191N → S in AKU. 2 Publications
VAR_073105
Natural varianti225 – 2251R → H in AKU. 2 Publications
Corresponds to variant rs562853291 [ dbSNP | Ensembl ].
VAR_005281
Natural varianti225 – 2251R → L in AKU. 1 Publication
VAR_073106
Natural varianti225 – 2251R → P in AKU. 1 Publication
Corresponds to variant rs562853291 [ dbSNP | Ensembl ].
VAR_073107
Natural varianti227 – 2271F → S in AKU. 2 Publications
VAR_005282
Natural varianti230 – 2301P → S in AKU; complete loss of activity. 4 Publications
Corresponds to variant rs28942100 [ dbSNP | Ensembl ].
VAR_005283
Natural varianti230 – 2301P → T in AKU. 1 Publication
VAR_005284
Natural varianti245 – 2451V → F in AKU. 1 Publication
VAR_073108
Natural varianti258 – 2581Q → P in AKU. 1 Publication
Corresponds to variant rs759843592 [ dbSNP | Ensembl ].
VAR_073109
Natural varianti269 – 2691H → R in AKU. 1 Publication
Corresponds to variant rs756522409 [ dbSNP | Ensembl ].
VAR_073110
Natural varianti270 – 2701G → R in AKU. 3 Publications
Corresponds to variant rs120074174 [ dbSNP | Ensembl ].
VAR_009620
Natural varianti276 – 2761K → N in AKU. 2 Publications
VAR_073111
Natural varianti291 – 2911D → E in AKU. 1 Publication
Corresponds to variant rs754428438 [ dbSNP | Ensembl ].
VAR_005285
Natural varianti300 – 3001V → G in AKU. 4 Publications
Corresponds to variant rs120074170 [ dbSNP | Ensembl ].
VAR_005286
Natural varianti321 – 3211R → P in AKU. 1 Publication
VAR_073112
Natural varianti329 – 3291F → C in AKU. 1 Publication
VAR_073113
Natural varianti330 – 3301R → S in AKU. 1 Publication
Corresponds to variant rs120074171 [ dbSNP | Ensembl ].
VAR_008744
Natural varianti337 – 3371N → D in AKU. 1 Publication
VAR_073114
Natural varianti359 – 3591P → L in AKU. 2 Publications
Corresponds to variant rs764037565 [ dbSNP | Ensembl ].
VAR_073115
Natural varianti360 – 3601G → A in AKU. 1 Publication
VAR_073116
Natural varianti360 – 3601G → R in AKU. 2 Publications
Corresponds to variant rs368717991 [ dbSNP | Ensembl ].
VAR_073117
Natural varianti361 – 3611G → R in AKU. 2 Publications
Corresponds to variant rs765219004 [ dbSNP | Ensembl ].
VAR_073118
Natural varianti362 – 3621G → E in AKU. 1 Publication
VAR_073119
Natural varianti368 – 3681M → V in AKU; loss of activity. 6 Publications
Corresponds to variant rs120074173 [ dbSNP | Ensembl ].
VAR_005287
Natural varianti369 – 3691T → N in AKU. 1 Publication
Corresponds to variant rs765912447 [ dbSNP | Ensembl ].
VAR_073120
Natural varianti371 – 3711H → R in AKU. 1 Publication
Corresponds to variant rs120074172 [ dbSNP | Ensembl ].
VAR_008745
Natural varianti373 – 3731P → L in AKU. 1 Publication
Corresponds to variant rs138558042 [ dbSNP | Ensembl ].
VAR_073121
Natural varianti374 – 3741D → H in AKU. 2 Publications
VAR_073122
Natural varianti401 – 4011E → Q in AKU. 1 Publication
Corresponds to variant rs767159114 [ dbSNP | Ensembl ].
VAR_073123

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiHGD.
MIMi203500. phenotype.
Orphaneti56. Alkaptonuria.
PharmGKBiPA29268.

Polymorphism and mutation databases

BioMutaiHGD.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 445445Homogentisate 1,2-dioxygenasePRO_0000220240Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei98 – 981N6-acetyllysineCombined sources
Modified residuei414 – 4141N6-succinyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ93099.
PaxDbiQ93099.
PeptideAtlasiQ93099.
PRIDEiQ93099.

PTM databases

iPTMnetiQ93099.
PhosphoSiteiQ93099.

Expressioni

Tissue specificityi

Highest expression in the prostate, small intestine, colon, kidney and liver.

Gene expression databases

BgeeiENSG00000113924.
CleanExiHS_HGD.
ExpressionAtlasiQ93099. baseline and differential.
GenevisibleiQ93099. HS.

Organism-specific databases

HPAiHPA047374.
HPA052359.

Interactioni

Subunit structurei

Homohexamer arranged as a dimer of trimers.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF1P542742EBI-3907760,EBI-710997

Protein-protein interaction databases

BioGridi109329. 6 interactions.
IntActiQ93099. 5 interactions.
MINTiMINT-3049945.
STRINGi9606.ENSP00000283871.

Structurei

Secondary structure

1
445
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi6 – 83Combined sources
Beta strandi14 – 174Combined sources
Helixi36 – 383Combined sources
Beta strandi40 – 478Combined sources
Helixi53 – 553Combined sources
Beta strandi58 – 658Combined sources
Helixi85 – 873Combined sources
Beta strandi95 – 973Combined sources
Turni105 – 1073Combined sources
Turni112 – 1154Combined sources
Beta strandi116 – 1238Combined sources
Helixi125 – 1273Combined sources
Beta strandi131 – 1388Combined sources
Beta strandi144 – 16118Combined sources
Beta strandi163 – 1675Combined sources
Beta strandi170 – 1745Combined sources
Beta strandi178 – 1825Combined sources
Beta strandi188 – 1914Combined sources
Beta strandi193 – 20513Combined sources
Helixi214 – 2163Combined sources
Helixi224 – 2263Combined sources
Beta strandi227 – 2304Combined sources
Beta strandi238 – 24912Combined sources
Beta strandi252 – 2609Combined sources
Beta strandi265 – 2717Combined sources
Beta strandi275 – 2784Combined sources
Helixi279 – 2813Combined sources
Beta strandi288 – 2914Combined sources
Helixi295 – 2984Combined sources
Beta strandi299 – 3046Combined sources
Beta strandi311 – 3188Combined sources
Beta strandi320 – 3234Combined sources
Beta strandi326 – 3283Combined sources
Beta strandi340 – 3478Combined sources
Beta strandi362 – 3654Combined sources
Helixi375 – 3839Combined sources
Beta strandi389 – 3924Combined sources
Beta strandi396 – 4049Combined sources
Helixi410 – 4156Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1EY2X-ray2.30A1-445[»]
1EYBX-ray1.90A1-445[»]
ProteinModelPortaliQ93099.
SMRiQ93099. Positions 2-440.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ93099.

Family & Domainsi

Sequence similaritiesi

Belongs to the homogentisate dioxygenase family.Curated

Phylogenomic databases

eggNOGiKOG1417. Eukaryota.
COG3508. LUCA.
GeneTreeiENSGT00390000004601.
HOGENOMiHOG000139824.
HOVERGENiHBG005965.
InParanoidiQ93099.
KOiK00451.
OMAiFNTIGTI.
OrthoDBiEOG091G11CO.
PhylomeDBiQ93099.
TreeFamiTF300490.

Family and domain databases

Gene3Di2.60.120.10. 2 hits.
InterProiIPR005708. Homogentis_dOase.
IPR014710. RmlC-like_jellyroll.
IPR011051. RmlC_Cupin.
[Graphical view]
PANTHERiPTHR11056. PTHR11056. 1 hit.
PfamiPF04209. HgmA. 1 hit.
[Graphical view]
SUPFAMiSSF51182. SSF51182. 1 hit.
TIGRFAMsiTIGR01015. hmgA. 1 hit.

Sequencei

Sequence statusi: Complete.

Q93099-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAELKYISGF GNECSSEDPR CPGSLPEGQN NPQVCPYNLY AEQLSGSAFT
60 70 80 90 100
CPRSTNKRSW LYRILPSVSH KPFESIDEGQ VTHNWDEVDP DPNQLRWKPF
110 120 130 140 150
EIPKASQKKV DFVSGLHTLC GAGDIKSNNG LAIHIFLCNT SMENRCFYNS
160 170 180 190 200
DGDFLIVPQK GNLLIYTEFG KMLVQPNEIC VIQRGMRFSI DVFEETRGYI
210 220 230 240 250
LEVYGVHFEL PDLGPIGANG LANPRDFLIP IAWYEDRQVP GGYTVINKYQ
260 270 280 290 300
GKLFAAKQDV SPFNVVAWHG NYTPYKYNLK NFMVINSVAF DHADPSIFTV
310 320 330 340 350
LTAKSVRPGV AIADFVIFPP RWGVADKTFR PPYYHRNCMS EFMGLIRGHY
360 370 380 390 400
EAKQGGFLPG GGSLHSTMTP HGPDADCFEK ASKVKLAPER IADGTMAFMF
410 420 430 440
ESSLSLAVTK WGLKASRCLD ENYHKCWEPL KSHFTPNSRN PAEPN
Length:445
Mass (Da):49,964
Last modified:May 18, 2010 - v2
Checksum:iF99B51C134FFF965
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti383 – 3831K → R in BAF83471 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31E → A in AKU. 1 Publication
Corresponds to variant rs200412910 [ dbSNP | Ensembl ].
VAR_073076
Natural varianti13 – 131E → K in AKU. 1 Publication
VAR_073077
Natural varianti18 – 181D → N in AKU. 1 Publication
VAR_073078
Natural varianti25 – 251L → P in AKU. 2 Publications
VAR_009618
Natural varianti33 – 331Q → R in AKU. 1 Publication
VAR_073079
Natural varianti42 – 421E → A in AKU. 3 Publications
Corresponds to variant rs373921680 [ dbSNP | Ensembl ].
VAR_005272
Natural varianti44 – 441L → F in AKU. 1 Publication
VAR_073080
Natural varianti53 – 531R → Q in AKU. 1 Publication
Corresponds to variant rs200808744 [ dbSNP | Ensembl ].
VAR_073081
Natural varianti60 – 601W → G in AKU. 2 Publications
VAR_005273
Natural varianti61 – 611L → P in AKU. 1 Publication
VAR_073082
Natural varianti62 – 621Y → C in AKU. 2 Publications
VAR_005274
Natural varianti73 – 731F → L in AKU. 1 Publication
VAR_073083
Natural varianti80 – 801Q → H.Combined sources6 Publications
Corresponds to variant rs2255543 [ dbSNP | Ensembl ].
VAR_049353
Natural varianti92 – 921P → T in AKU. 1 Publication
VAR_073084
Natural varianti97 – 971W → G in AKU. 1 Publication
VAR_005275
Natural varianti97 – 971W → R in AKU. 1 Publication
VAR_073085
Natural varianti115 – 1151G → R in AKU. 2 Publications
Corresponds to variant rs755734596 [ dbSNP | Ensembl ].
VAR_073086
Natural varianti116 – 1161L → P in AKU. 1 Publication
Corresponds to variant rs569846003 [ dbSNP | Ensembl ].
VAR_073087
Natural varianti120 – 1201C → F in AKU. 2 Publications
Corresponds to variant rs752153829 [ dbSNP | Ensembl ].
VAR_073088
Natural varianti120 – 1201C → W in AKU. 1 Publication
Corresponds to variant rs149165166 [ dbSNP | Ensembl ].
VAR_073089
Natural varianti122 – 1221A → D in AKU. 1 Publication
VAR_005276
Natural varianti122 – 1221A → V in AKU. 1 Publication
Corresponds to variant rs544956641 [ dbSNP | Ensembl ].
VAR_073090
Natural varianti123 – 1231G → A in AKU. 1 Publication
Corresponds to variant rs374473331 [ dbSNP | Ensembl ].
VAR_073091
Natural varianti123 – 1231G → R in AKU. 2 Publications
Corresponds to variant rs564979861 [ dbSNP | Ensembl ].
VAR_073092
Natural varianti137 – 1371L → P in AKU. 1 Publication
VAR_073093
Natural varianti152 – 1521G → A in AKU. 1 Publication
VAR_073094
Natural varianti153 – 1531D → G in AKU. 1 Publication
VAR_005277
Natural varianti158 – 1581P → L in AKU. 1 Publication
Corresponds to variant rs375396766 [ dbSNP | Ensembl ].
VAR_073095
Natural varianti161 – 1611G → R in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients. 4 Publications
Corresponds to variant rs28941783 [ dbSNP | Ensembl ].
VAR_005278
Natural varianti168 – 1681E → D in AKU. 1 Publication
Corresponds to variant rs780173554 [ dbSNP | Ensembl ].
VAR_073096
Natural varianti168 – 1681E → K in AKU; loss of activity. 2 Publications
Corresponds to variant rs375283568 [ dbSNP | Ensembl ].
VAR_009619
Natural varianti169 – 1691F → L in AKU. 2 Publications
Corresponds to variant rs756134838 [ dbSNP | Ensembl ].
VAR_073097
Natural varianti171 – 1711K → N in AKU. 1 Publication
VAR_073098
Natural varianti172 – 1721M → T.1 Publication
VAR_073099
Natural varianti178 – 1781E → G in AKU. 1 Publication
VAR_073100
Natural varianti183 – 1831Q → R in AKU. 1 Publication
VAR_073101
Natural varianti187 – 1871R → G in AKU. 1 Publication
VAR_073102
Natural varianti189 – 1891S → I in AKU. 1 Publication
VAR_005279
Natural varianti197 – 1971R → G in AKU. 2 Publications
VAR_073103
Natural varianti216 – 2161I → T in AKU. 1 Publication
Corresponds to variant rs767201131 [ dbSNP | Ensembl ].
VAR_005280
Natural varianti217 – 2171G → W in AKU. 1 Publication
VAR_073104
Natural varianti219 – 2191N → S in AKU. 2 Publications
VAR_073105
Natural varianti225 – 2251R → H in AKU. 2 Publications
Corresponds to variant rs562853291 [ dbSNP | Ensembl ].
VAR_005281
Natural varianti225 – 2251R → L in AKU. 1 Publication
VAR_073106
Natural varianti225 – 2251R → P in AKU. 1 Publication
Corresponds to variant rs562853291 [ dbSNP | Ensembl ].
VAR_073107
Natural varianti227 – 2271F → S in AKU. 2 Publications
VAR_005282
Natural varianti230 – 2301P → S in AKU; complete loss of activity. 4 Publications
Corresponds to variant rs28942100 [ dbSNP | Ensembl ].
VAR_005283
Natural varianti230 – 2301P → T in AKU. 1 Publication
VAR_005284
Natural varianti245 – 2451V → F in AKU. 1 Publication
VAR_073108
Natural varianti258 – 2581Q → P in AKU. 1 Publication
Corresponds to variant rs759843592 [ dbSNP | Ensembl ].
VAR_073109
Natural varianti269 – 2691H → R in AKU. 1 Publication
Corresponds to variant rs756522409 [ dbSNP | Ensembl ].
VAR_073110
Natural varianti270 – 2701G → R in AKU. 3 Publications
Corresponds to variant rs120074174 [ dbSNP | Ensembl ].
VAR_009620
Natural varianti276 – 2761K → N in AKU. 2 Publications
VAR_073111
Natural varianti291 – 2911D → E in AKU. 1 Publication
Corresponds to variant rs754428438 [ dbSNP | Ensembl ].
VAR_005285
Natural varianti300 – 3001V → G in AKU. 4 Publications
Corresponds to variant rs120074170 [ dbSNP | Ensembl ].
VAR_005286
Natural varianti321 – 3211R → P in AKU. 1 Publication
VAR_073112
Natural varianti329 – 3291F → C in AKU. 1 Publication
VAR_073113
Natural varianti330 – 3301R → S in AKU. 1 Publication
Corresponds to variant rs120074171 [ dbSNP | Ensembl ].
VAR_008744
Natural varianti337 – 3371N → D in AKU. 1 Publication
VAR_073114
Natural varianti359 – 3591P → L in AKU. 2 Publications
Corresponds to variant rs764037565 [ dbSNP | Ensembl ].
VAR_073115
Natural varianti360 – 3601G → A in AKU. 1 Publication
VAR_073116
Natural varianti360 – 3601G → R in AKU. 2 Publications
Corresponds to variant rs368717991 [ dbSNP | Ensembl ].
VAR_073117
Natural varianti361 – 3611G → R in AKU. 2 Publications
Corresponds to variant rs765219004 [ dbSNP | Ensembl ].
VAR_073118
Natural varianti362 – 3621G → E in AKU. 1 Publication
VAR_073119
Natural varianti368 – 3681M → V in AKU; loss of activity. 6 Publications
Corresponds to variant rs120074173 [ dbSNP | Ensembl ].
VAR_005287
Natural varianti369 – 3691T → N in AKU. 1 Publication
Corresponds to variant rs765912447 [ dbSNP | Ensembl ].
VAR_073120
Natural varianti371 – 3711H → R in AKU. 1 Publication
Corresponds to variant rs120074172 [ dbSNP | Ensembl ].
VAR_008745
Natural varianti373 – 3731P → L in AKU. 1 Publication
Corresponds to variant rs138558042 [ dbSNP | Ensembl ].
VAR_073121
Natural varianti374 – 3741D → H in AKU. 2 Publications
VAR_073122
Natural varianti401 – 4011E → Q in AKU. 1 Publication
Corresponds to variant rs767159114 [ dbSNP | Ensembl ].
VAR_073123

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U63008 mRNA. Translation: AAB16836.1.
Z75048 mRNA. Translation: CAA99340.1.
AF000573 Genomic DNA. Translation: AAC51650.1.
AF045167 mRNA. Translation: AAC02698.1.
AK290782 mRNA. Translation: BAF83471.1.
AK313563 mRNA. Translation: BAG36337.1.
AC126182 Genomic DNA. No translation available.
AC133474 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79524.1.
BC071757 mRNA. Translation: AAH71757.1.
CCDSiCCDS3000.1.
RefSeqiNP_000178.2. NM_000187.3.
UniGeneiHs.368254.

Genome annotation databases

EnsembliENST00000283871; ENSP00000283871; ENSG00000113924.
GeneIDi3081.
KEGGihsa:3081.
UCSCiuc003edw.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U63008 mRNA. Translation: AAB16836.1.
Z75048 mRNA. Translation: CAA99340.1.
AF000573 Genomic DNA. Translation: AAC51650.1.
AF045167 mRNA. Translation: AAC02698.1.
AK290782 mRNA. Translation: BAF83471.1.
AK313563 mRNA. Translation: BAG36337.1.
AC126182 Genomic DNA. No translation available.
AC133474 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79524.1.
BC071757 mRNA. Translation: AAH71757.1.
CCDSiCCDS3000.1.
RefSeqiNP_000178.2. NM_000187.3.
UniGeneiHs.368254.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1EY2X-ray2.30A1-445[»]
1EYBX-ray1.90A1-445[»]
ProteinModelPortaliQ93099.
SMRiQ93099. Positions 2-440.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109329. 6 interactions.
IntActiQ93099. 5 interactions.
MINTiMINT-3049945.
STRINGi9606.ENSP00000283871.

PTM databases

iPTMnetiQ93099.
PhosphoSiteiQ93099.

Polymorphism and mutation databases

BioMutaiHGD.

Proteomic databases

MaxQBiQ93099.
PaxDbiQ93099.
PeptideAtlasiQ93099.
PRIDEiQ93099.

Protocols and materials databases

DNASUi3081.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283871; ENSP00000283871; ENSG00000113924.
GeneIDi3081.
KEGGihsa:3081.
UCSCiuc003edw.4. human.

Organism-specific databases

CTDi3081.
GeneCardsiHGD.
GeneReviewsiHGD.
H-InvDBHIX0003593.
HGNCiHGNC:4892. HGD.
HPAiHPA047374.
HPA052359.
MalaCardsiHGD.
MIMi203500. phenotype.
607474. gene.
neXtProtiNX_Q93099.
Orphaneti56. Alkaptonuria.
PharmGKBiPA29268.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1417. Eukaryota.
COG3508. LUCA.
GeneTreeiENSGT00390000004601.
HOGENOMiHOG000139824.
HOVERGENiHBG005965.
InParanoidiQ93099.
KOiK00451.
OMAiFNTIGTI.
OrthoDBiEOG091G11CO.
PhylomeDBiQ93099.
TreeFamiTF300490.

Enzyme and pathway databases

UniPathwayiUPA00139; UER00339.
BioCyciMetaCyc:HS03728-MONOMER.
BRENDAi1.13.11.5. 2681.
ReactomeiR-HSA-71182. Phenylalanine and tyrosine catabolism.

Miscellaneous databases

ChiTaRSiHGD. human.
EvolutionaryTraceiQ93099.
GenomeRNAii3081.
PROiQ93099.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113924.
CleanExiHS_HGD.
ExpressionAtlasiQ93099. baseline and differential.
GenevisibleiQ93099. HS.

Family and domain databases

Gene3Di2.60.120.10. 2 hits.
InterProiIPR005708. Homogentis_dOase.
IPR014710. RmlC-like_jellyroll.
IPR011051. RmlC_Cupin.
[Graphical view]
PANTHERiPTHR11056. PTHR11056. 1 hit.
PfamiPF04209. HgmA. 1 hit.
[Graphical view]
SUPFAMiSSF51182. SSF51182. 1 hit.
TIGRFAMsiTIGR01015. hmgA. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiHGD_HUMAN
AccessioniPrimary (citable) accession number: Q93099
Secondary accession number(s): A8K417, B2R8Z0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 161 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.