Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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)DescriptionActionsGraphical viewLength
Metal bindingi335Iron1
Metal bindingi341Iron1
Metal bindingi371Iron1

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.
ZFISH: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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0730763E → A in AKU. 1 PublicationCorresponds to variant rs200412910dbSNPEnsembl.1
Natural variantiVAR_07307713E → K in AKU. 1 Publication1
Natural variantiVAR_07307818D → N in AKU. 1 Publication1
Natural variantiVAR_00961825L → P in AKU. 2 Publications1
Natural variantiVAR_07307933Q → R in AKU. 1 Publication1
Natural variantiVAR_00527242E → A in AKU. 3 PublicationsCorresponds to variant rs373921680dbSNPEnsembl.1
Natural variantiVAR_07308044L → F in AKU. 1 Publication1
Natural variantiVAR_07308153R → Q in AKU. 1 PublicationCorresponds to variant rs200808744dbSNPEnsembl.1
Natural variantiVAR_00527360W → G in AKU. 2 Publications1
Natural variantiVAR_07308261L → P in AKU. 1 Publication1
Natural variantiVAR_00527462Y → C in AKU. 2 Publications1
Natural variantiVAR_07308373F → L in AKU. 1 Publication1
Natural variantiVAR_07308492P → T in AKU. 1 Publication1
Natural variantiVAR_00527597W → G in AKU. 1 Publication1
Natural variantiVAR_07308597W → R in AKU. 1 Publication1
Natural variantiVAR_073086115G → R in AKU. 2 PublicationsCorresponds to variant rs755734596dbSNPEnsembl.1
Natural variantiVAR_073087116L → P in AKU. 1 PublicationCorresponds to variant rs569846003dbSNPEnsembl.1
Natural variantiVAR_073088120C → F in AKU. 2 PublicationsCorresponds to variant rs752153829dbSNPEnsembl.1
Natural variantiVAR_073089120C → W in AKU. 1 PublicationCorresponds to variant rs149165166dbSNPEnsembl.1
Natural variantiVAR_005276122A → D in AKU. 1 Publication1
Natural variantiVAR_073090122A → V in AKU. 1 PublicationCorresponds to variant rs544956641dbSNPEnsembl.1
Natural variantiVAR_073091123G → A in AKU. 1 PublicationCorresponds to variant rs374473331dbSNPEnsembl.1
Natural variantiVAR_073092123G → R in AKU. 2 PublicationsCorresponds to variant rs564979861dbSNPEnsembl.1
Natural variantiVAR_073093137L → P in AKU. 1 Publication1
Natural variantiVAR_073094152G → A in AKU. 1 Publication1
Natural variantiVAR_005277153D → G in AKU. 1 PublicationCorresponds to variant rs775274569dbSNPEnsembl.1
Natural variantiVAR_073095158P → L in AKU. 1 PublicationCorresponds to variant rs375396766dbSNPEnsembl.1
Natural variantiVAR_005278161G → R in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients. 4 PublicationsCorresponds to variant rs28941783dbSNPEnsembl.1
Natural variantiVAR_073096168E → D in AKU. 1 PublicationCorresponds to variant rs780173554dbSNPEnsembl.1
Natural variantiVAR_009619168E → K in AKU; loss of activity. 2 PublicationsCorresponds to variant rs375283568dbSNPEnsembl.1
Natural variantiVAR_073097169F → L in AKU. 2 PublicationsCorresponds to variant rs756134838dbSNPEnsembl.1
Natural variantiVAR_073098171K → N in AKU. 1 Publication1
Natural variantiVAR_073100178E → G in AKU. 1 Publication1
Natural variantiVAR_073101183Q → R in AKU. 1 Publication1
Natural variantiVAR_073102187R → G in AKU. 1 Publication1
Natural variantiVAR_005279189S → I in AKU. 1 Publication1
Natural variantiVAR_073103197R → G in AKU. 2 Publications1
Natural variantiVAR_005280216I → T in AKU. 1 PublicationCorresponds to variant rs767201131dbSNPEnsembl.1
Natural variantiVAR_073104217G → W in AKU. 1 Publication1
Natural variantiVAR_073105219N → S in AKU. 2 Publications1
Natural variantiVAR_005281225R → H in AKU. 2 PublicationsCorresponds to variant rs562853291dbSNPEnsembl.1
Natural variantiVAR_073106225R → L in AKU. 1 Publication1
Natural variantiVAR_073107225R → P in AKU. 1 PublicationCorresponds to variant rs562853291dbSNPEnsembl.1
Natural variantiVAR_005282227F → S in AKU. 2 Publications1
Natural variantiVAR_005283230P → S in AKU; complete loss of activity. 4 PublicationsCorresponds to variant rs28942100dbSNPEnsembl.1
Natural variantiVAR_005284230P → T in AKU. 1 Publication1
Natural variantiVAR_073108245V → F in AKU. 1 Publication1
Natural variantiVAR_073109258Q → P in AKU. 1 PublicationCorresponds to variant rs759843592dbSNPEnsembl.1
Natural variantiVAR_073110269H → R in AKU. 1 PublicationCorresponds to variant rs756522409dbSNPEnsembl.1
Natural variantiVAR_009620270G → R in AKU. 3 PublicationsCorresponds to variant rs120074174dbSNPEnsembl.1
Natural variantiVAR_073111276K → N in AKU. 2 Publications1
Natural variantiVAR_005285291D → E in AKU. 1 PublicationCorresponds to variant rs754428438dbSNPEnsembl.1
Natural variantiVAR_005286300V → G in AKU. 4 PublicationsCorresponds to variant rs120074170dbSNPEnsembl.1
Natural variantiVAR_073112321R → P in AKU. 1 Publication1
Natural variantiVAR_073113329F → C in AKU. 1 Publication1
Natural variantiVAR_008744330R → S in AKU. 1 PublicationCorresponds to variant rs120074171dbSNPEnsembl.1
Natural variantiVAR_073114337N → D in AKU. 1 Publication1
Natural variantiVAR_073115359P → L in AKU. 2 PublicationsCorresponds to variant rs764037565dbSNPEnsembl.1
Natural variantiVAR_073116360G → A in AKU. 1 Publication1
Natural variantiVAR_073117360G → R in AKU. 2 PublicationsCorresponds to variant rs368717991dbSNPEnsembl.1
Natural variantiVAR_073118361G → R in AKU. 2 PublicationsCorresponds to variant rs765219004dbSNPEnsembl.1
Natural variantiVAR_073119362G → E in AKU. 1 Publication1
Natural variantiVAR_005287368M → V in AKU; loss of activity. 6 PublicationsCorresponds to variant rs120074173dbSNPEnsembl.1
Natural variantiVAR_073120369T → N in AKU. 1 PublicationCorresponds to variant rs765912447dbSNPEnsembl.1
Natural variantiVAR_008745371H → R in AKU. 1 PublicationCorresponds to variant rs120074172dbSNPEnsembl.1
Natural variantiVAR_073121373P → L in AKU. 1 PublicationCorresponds to variant rs138558042dbSNPEnsembl.1
Natural variantiVAR_073122374D → H in AKU. 2 Publications1
Natural variantiVAR_073123401E → Q in AKU. 1 PublicationCorresponds to variant rs767159114dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3081.
MalaCardsiHGD.
MIMi203500. phenotype.
OpenTargetsiENSG00000113924.
Orphaneti56. Alkaptonuria.
PharmGKBiPA29268.

Polymorphism and mutation databases

BioMutaiHGD.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002202401 – 445Homogentisate 1,2-dioxygenaseAdd BLAST445

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei98N6-acetyllysineCombined sources1
Modified residuei414N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ93099.
PaxDbiQ93099.
PeptideAtlasiQ93099.
PRIDEiQ93099.

PTM databases

iPTMnetiQ93099.
PhosphoSitePlusiQ93099.

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
itself3EBI-3907760,EBI-3907760
TERF1P542742EBI-3907760,EBI-710997

Protein-protein interaction databases

BioGridi109329. 6 interactors.
IntActiQ93099. 6 interactors.
MINTiMINT-3049945.
STRINGi9606.ENSP00000283871.

Structurei

Secondary structure

1445
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi6 – 8Combined sources3
Beta strandi14 – 17Combined sources4
Helixi36 – 38Combined sources3
Beta strandi40 – 47Combined sources8
Helixi53 – 55Combined sources3
Beta strandi58 – 65Combined sources8
Helixi85 – 87Combined sources3
Beta strandi95 – 97Combined sources3
Turni105 – 107Combined sources3
Turni112 – 115Combined sources4
Beta strandi116 – 123Combined sources8
Helixi125 – 127Combined sources3
Beta strandi131 – 138Combined sources8
Beta strandi144 – 161Combined sources18
Beta strandi163 – 167Combined sources5
Beta strandi170 – 174Combined sources5
Beta strandi178 – 182Combined sources5
Beta strandi188 – 191Combined sources4
Beta strandi193 – 205Combined sources13
Helixi214 – 216Combined sources3
Helixi224 – 226Combined sources3
Beta strandi227 – 230Combined sources4
Beta strandi238 – 249Combined sources12
Beta strandi252 – 260Combined sources9
Beta strandi265 – 271Combined sources7
Beta strandi275 – 278Combined sources4
Helixi279 – 281Combined sources3
Beta strandi288 – 291Combined sources4
Helixi295 – 298Combined sources4
Beta strandi299 – 304Combined sources6
Beta strandi311 – 318Combined sources8
Beta strandi320 – 323Combined sources4
Beta strandi326 – 328Combined sources3
Beta strandi340 – 347Combined sources8
Beta strandi362 – 365Combined sources4
Helixi375 – 383Combined sources9
Beta strandi389 – 392Combined sources4
Beta strandi396 – 404Combined sources9
Helixi410 – 415Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EY2X-ray2.30A1-445[»]
1EYBX-ray1.90A1-445[»]
ProteinModelPortaliQ93099.
SMRiQ93099.
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)DescriptionActionsGraphical viewLength
Sequence conflicti383K → R in BAF83471 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0730763E → A in AKU. 1 PublicationCorresponds to variant rs200412910dbSNPEnsembl.1
Natural variantiVAR_07307713E → K in AKU. 1 Publication1
Natural variantiVAR_07307818D → N in AKU. 1 Publication1
Natural variantiVAR_00961825L → P in AKU. 2 Publications1
Natural variantiVAR_07307933Q → R in AKU. 1 Publication1
Natural variantiVAR_00527242E → A in AKU. 3 PublicationsCorresponds to variant rs373921680dbSNPEnsembl.1
Natural variantiVAR_07308044L → F in AKU. 1 Publication1
Natural variantiVAR_07308153R → Q in AKU. 1 PublicationCorresponds to variant rs200808744dbSNPEnsembl.1
Natural variantiVAR_00527360W → G in AKU. 2 Publications1
Natural variantiVAR_07308261L → P in AKU. 1 Publication1
Natural variantiVAR_00527462Y → C in AKU. 2 Publications1
Natural variantiVAR_07308373F → L in AKU. 1 Publication1
Natural variantiVAR_04935380Q → H.Combined sources6 PublicationsCorresponds to variant rs2255543dbSNPEnsembl.1
Natural variantiVAR_07308492P → T in AKU. 1 Publication1
Natural variantiVAR_00527597W → G in AKU. 1 Publication1
Natural variantiVAR_07308597W → R in AKU. 1 Publication1
Natural variantiVAR_073086115G → R in AKU. 2 PublicationsCorresponds to variant rs755734596dbSNPEnsembl.1
Natural variantiVAR_073087116L → P in AKU. 1 PublicationCorresponds to variant rs569846003dbSNPEnsembl.1
Natural variantiVAR_073088120C → F in AKU. 2 PublicationsCorresponds to variant rs752153829dbSNPEnsembl.1
Natural variantiVAR_073089120C → W in AKU. 1 PublicationCorresponds to variant rs149165166dbSNPEnsembl.1
Natural variantiVAR_005276122A → D in AKU. 1 Publication1
Natural variantiVAR_073090122A → V in AKU. 1 PublicationCorresponds to variant rs544956641dbSNPEnsembl.1
Natural variantiVAR_073091123G → A in AKU. 1 PublicationCorresponds to variant rs374473331dbSNPEnsembl.1
Natural variantiVAR_073092123G → R in AKU. 2 PublicationsCorresponds to variant rs564979861dbSNPEnsembl.1
Natural variantiVAR_073093137L → P in AKU. 1 Publication1
Natural variantiVAR_073094152G → A in AKU. 1 Publication1
Natural variantiVAR_005277153D → G in AKU. 1 PublicationCorresponds to variant rs775274569dbSNPEnsembl.1
Natural variantiVAR_073095158P → L in AKU. 1 PublicationCorresponds to variant rs375396766dbSNPEnsembl.1
Natural variantiVAR_005278161G → R in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients. 4 PublicationsCorresponds to variant rs28941783dbSNPEnsembl.1
Natural variantiVAR_073096168E → D in AKU. 1 PublicationCorresponds to variant rs780173554dbSNPEnsembl.1
Natural variantiVAR_009619168E → K in AKU; loss of activity. 2 PublicationsCorresponds to variant rs375283568dbSNPEnsembl.1
Natural variantiVAR_073097169F → L in AKU. 2 PublicationsCorresponds to variant rs756134838dbSNPEnsembl.1
Natural variantiVAR_073098171K → N in AKU. 1 Publication1
Natural variantiVAR_073099172M → T.1 Publication1
Natural variantiVAR_073100178E → G in AKU. 1 Publication1
Natural variantiVAR_073101183Q → R in AKU. 1 Publication1
Natural variantiVAR_073102187R → G in AKU. 1 Publication1
Natural variantiVAR_005279189S → I in AKU. 1 Publication1
Natural variantiVAR_073103197R → G in AKU. 2 Publications1
Natural variantiVAR_005280216I → T in AKU. 1 PublicationCorresponds to variant rs767201131dbSNPEnsembl.1
Natural variantiVAR_073104217G → W in AKU. 1 Publication1
Natural variantiVAR_073105219N → S in AKU. 2 Publications1
Natural variantiVAR_005281225R → H in AKU. 2 PublicationsCorresponds to variant rs562853291dbSNPEnsembl.1
Natural variantiVAR_073106225R → L in AKU. 1 Publication1
Natural variantiVAR_073107225R → P in AKU. 1 PublicationCorresponds to variant rs562853291dbSNPEnsembl.1
Natural variantiVAR_005282227F → S in AKU. 2 Publications1
Natural variantiVAR_005283230P → S in AKU; complete loss of activity. 4 PublicationsCorresponds to variant rs28942100dbSNPEnsembl.1
Natural variantiVAR_005284230P → T in AKU. 1 Publication1
Natural variantiVAR_073108245V → F in AKU. 1 Publication1
Natural variantiVAR_073109258Q → P in AKU. 1 PublicationCorresponds to variant rs759843592dbSNPEnsembl.1
Natural variantiVAR_073110269H → R in AKU. 1 PublicationCorresponds to variant rs756522409dbSNPEnsembl.1
Natural variantiVAR_009620270G → R in AKU. 3 PublicationsCorresponds to variant rs120074174dbSNPEnsembl.1
Natural variantiVAR_073111276K → N in AKU. 2 Publications1
Natural variantiVAR_005285291D → E in AKU. 1 PublicationCorresponds to variant rs754428438dbSNPEnsembl.1
Natural variantiVAR_005286300V → G in AKU. 4 PublicationsCorresponds to variant rs120074170dbSNPEnsembl.1
Natural variantiVAR_073112321R → P in AKU. 1 Publication1
Natural variantiVAR_073113329F → C in AKU. 1 Publication1
Natural variantiVAR_008744330R → S in AKU. 1 PublicationCorresponds to variant rs120074171dbSNPEnsembl.1
Natural variantiVAR_073114337N → D in AKU. 1 Publication1
Natural variantiVAR_073115359P → L in AKU. 2 PublicationsCorresponds to variant rs764037565dbSNPEnsembl.1
Natural variantiVAR_073116360G → A in AKU. 1 Publication1
Natural variantiVAR_073117360G → R in AKU. 2 PublicationsCorresponds to variant rs368717991dbSNPEnsembl.1
Natural variantiVAR_073118361G → R in AKU. 2 PublicationsCorresponds to variant rs765219004dbSNPEnsembl.1
Natural variantiVAR_073119362G → E in AKU. 1 Publication1
Natural variantiVAR_005287368M → V in AKU; loss of activity. 6 PublicationsCorresponds to variant rs120074173dbSNPEnsembl.1
Natural variantiVAR_073120369T → N in AKU. 1 PublicationCorresponds to variant rs765912447dbSNPEnsembl.1
Natural variantiVAR_008745371H → R in AKU. 1 PublicationCorresponds to variant rs120074172dbSNPEnsembl.1
Natural variantiVAR_073121373P → L in AKU. 1 PublicationCorresponds to variant rs138558042dbSNPEnsembl.1
Natural variantiVAR_073122374D → H in AKU. 2 Publications1
Natural variantiVAR_073123401E → Q in AKU. 1 PublicationCorresponds to variant rs767159114dbSNPEnsembl.1

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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EY2X-ray2.30A1-445[»]
1EYBX-ray1.90A1-445[»]
ProteinModelPortaliQ93099.
SMRiQ93099.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109329. 6 interactors.
IntActiQ93099. 6 interactors.
MINTiMINT-3049945.
STRINGi9606.ENSP00000283871.

PTM databases

iPTMnetiQ93099.
PhosphoSitePlusiQ93099.

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.
DisGeNETi3081.
GeneCardsiHGD.
GeneReviewsiHGD.
H-InvDBHIX0003593.
HGNCiHGNC:4892. HGD.
HPAiHPA047374.
HPA052359.
MalaCardsiHGD.
MIMi203500. phenotype.
607474. gene.
neXtProtiNX_Q93099.
OpenTargetsiENSG00000113924.
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.
ZFISH: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: November 30, 2016
This is version 164 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.