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: -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

  • homogentisate 1,2-dioxygenase activity Source: Reactome
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • L-phenylalanine catabolic process Source: Reactome
  • tyrosine catabolic process Source: ProtInc

Keywordsi

Molecular functionDioxygenase, Oxidoreductase
Biological processPhenylalanine catabolism, Tyrosine catabolism
LigandIron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS03728-MONOMER
BRENDAi1.13.11.5 2681
ReactomeiR-HSA-71182 Phenylalanine and tyrosine catabolism
UniPathwayi
UPA00139;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

EuPathDBiHostDB:ENSG00000113924.11
HGNCiHGNC:4892 HGD
MIMi607474 gene
neXtProtiNX_Q93099

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs200412910Ensembl.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 dbSNP:rs373921680Ensembl.1
Natural variantiVAR_07308044L → F in AKU. 1 PublicationCorresponds to variant dbSNP:rs1049246177Ensembl.1
Natural variantiVAR_07308153R → Q in AKU. 1 PublicationCorresponds to variant dbSNP:rs200808744EnsemblClinVar.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 dbSNP:rs755734596Ensembl.1
Natural variantiVAR_073087116L → P in AKU. 1 PublicationCorresponds to variant dbSNP:rs569846003Ensembl.1
Natural variantiVAR_073088120C → F in AKU. 2 PublicationsCorresponds to variant dbSNP:rs752153829Ensembl.1
Natural variantiVAR_073089120C → W in AKU. 1 PublicationCorresponds to variant dbSNP:rs149165166EnsemblClinVar.1
Natural variantiVAR_005276122A → D in AKU. 1 Publication1
Natural variantiVAR_073090122A → V in AKU. 1 PublicationCorresponds to variant dbSNP:rs544956641EnsemblClinVar.1
Natural variantiVAR_073091123G → A in AKU. 1 PublicationCorresponds to variant dbSNP:rs374473331Ensembl.1
Natural variantiVAR_073092123G → R in AKU. 2 PublicationsCorresponds to variant dbSNP:rs564979861Ensembl.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 dbSNP:rs775274569Ensembl.1
Natural variantiVAR_073095158P → L in AKU. 1 PublicationCorresponds to variant dbSNP:rs375396766Ensembl.1
Natural variantiVAR_005278161G → R in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients. 4 PublicationsCorresponds to variant dbSNP:rs28941783EnsemblClinVar.1
Natural variantiVAR_073096168E → D in AKU. 1 PublicationCorresponds to variant dbSNP:rs780173554Ensembl.1
Natural variantiVAR_009619168E → K in AKU; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs375283568Ensembl.1
Natural variantiVAR_073097169F → L in AKU. 2 PublicationsCorresponds to variant dbSNP:rs756134838Ensembl.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 dbSNP:rs767201131Ensembl.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 dbSNP:rs562853291EnsemblClinVar.1
Natural variantiVAR_073106225R → L in AKU. 1 Publication1
Natural variantiVAR_073107225R → P in AKU. 1 PublicationCorresponds to variant dbSNP:rs562853291EnsemblClinVar.1
Natural variantiVAR_005282227F → S in AKU. 2 Publications1
Natural variantiVAR_005283230P → S in AKU; complete loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs28942100EnsemblClinVar.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 dbSNP:rs759843592Ensembl.1
Natural variantiVAR_073110269H → R in AKU. 1 PublicationCorresponds to variant dbSNP:rs756522409Ensembl.1
Natural variantiVAR_009620270G → R in AKU. 3 PublicationsCorresponds to variant dbSNP:rs120074174EnsemblClinVar.1
Natural variantiVAR_073111276K → N in AKU. 2 Publications1
Natural variantiVAR_005285291D → E in AKU. 1 PublicationCorresponds to variant dbSNP:rs754428438Ensembl.1
Natural variantiVAR_005286300V → G in AKU. 4 PublicationsCorresponds to variant dbSNP:rs120074170EnsemblClinVar.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 dbSNP:rs120074171EnsemblClinVar.1
Natural variantiVAR_073114337N → D in AKU. 1 Publication1
Natural variantiVAR_073115359P → L in AKU. 2 PublicationsCorresponds to variant dbSNP:rs764037565Ensembl.1
Natural variantiVAR_073116360G → A in AKU. 1 Publication1
Natural variantiVAR_073117360G → R in AKU. 2 PublicationsCorresponds to variant dbSNP:rs368717991Ensembl.1
Natural variantiVAR_073118361G → R in AKU. 2 PublicationsCorresponds to variant dbSNP:rs765219004Ensembl.1
Natural variantiVAR_073119362G → E in AKU. 1 Publication1
Natural variantiVAR_005287368M → V in AKU; loss of activity. 6 PublicationsCorresponds to variant dbSNP:rs120074173EnsemblClinVar.1
Natural variantiVAR_073120369T → N in AKU. 1 PublicationCorresponds to variant dbSNP:rs765912447Ensembl.1
Natural variantiVAR_008745371H → R in AKU. 1 PublicationCorresponds to variant dbSNP:rs120074172EnsemblClinVar.1
Natural variantiVAR_073121373P → L in AKU. 1 PublicationCorresponds to variant dbSNP:rs138558042Ensembl.1
Natural variantiVAR_073122374D → H in AKU. 2 PublicationsCorresponds to variant dbSNP:rs981454067Ensembl.1
Natural variantiVAR_073123401E → Q in AKU. 1 PublicationCorresponds to variant dbSNP:rs767159114EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3081
GeneReviewsiHGD
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
ProteomicsDBi75725

PTM databases

iPTMnetiQ93099
PhosphoSitePlusiQ93099

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000113924 Expressed in 138 organ(s), highest expression level in right lobe of liver
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109329, 5 interactors
IntActiQ93099, 6 interactors
MINTiQ93099
STRINGi9606.ENSP00000283871

Structurei

Secondary structure

1445
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiHGNYTPY
OrthoDBiEOG091G11CO
PhylomeDBiQ93099
TreeFamiTF300490

Family and domain databases

Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR005708 Homogentis_dOase
IPR014710 RmlC-like_jellyroll
IPR011051 RmlC_Cupin_sf
PANTHERiPTHR11056 PTHR11056, 1 hit
PfamiView protein in Pfam
PF04209 HgmA, 1 hit
SUPFAMiSSF51182 SSF51182, 1 hit
TIGRFAMsiTIGR01015 hmgA, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C576H7C576_HUMAN
Homogentisate 1,2-dioxygenase
HGD
145Annotation score:
C9JTX9C9JTX9_HUMAN
Homogentisate 1,2-dioxygenase
HGD
142Annotation score:
H7C4R8H7C4R8_HUMAN
Homogentisate 1,2-dioxygenase
HGD
88Annotation score:
H7C5G7H7C5G7_HUMAN
Homogentisate 1,2-dioxygenase
HGD
98Annotation score:

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 dbSNP:rs200412910Ensembl.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 dbSNP:rs373921680Ensembl.1
Natural variantiVAR_07308044L → F in AKU. 1 PublicationCorresponds to variant dbSNP:rs1049246177Ensembl.1
Natural variantiVAR_07308153R → Q in AKU. 1 PublicationCorresponds to variant dbSNP:rs200808744EnsemblClinVar.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 → HCombined sources6 PublicationsCorresponds to variant dbSNP:rs2255543EnsemblClinVar.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 dbSNP:rs755734596Ensembl.1
Natural variantiVAR_073087116L → P in AKU. 1 PublicationCorresponds to variant dbSNP:rs569846003Ensembl.1
Natural variantiVAR_073088120C → F in AKU. 2 PublicationsCorresponds to variant dbSNP:rs752153829Ensembl.1
Natural variantiVAR_073089120C → W in AKU. 1 PublicationCorresponds to variant dbSNP:rs149165166EnsemblClinVar.1
Natural variantiVAR_005276122A → D in AKU. 1 Publication1
Natural variantiVAR_073090122A → V in AKU. 1 PublicationCorresponds to variant dbSNP:rs544956641EnsemblClinVar.1
Natural variantiVAR_073091123G → A in AKU. 1 PublicationCorresponds to variant dbSNP:rs374473331Ensembl.1
Natural variantiVAR_073092123G → R in AKU. 2 PublicationsCorresponds to variant dbSNP:rs564979861Ensembl.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 dbSNP:rs775274569Ensembl.1
Natural variantiVAR_073095158P → L in AKU. 1 PublicationCorresponds to variant dbSNP:rs375396766Ensembl.1
Natural variantiVAR_005278161G → R in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients. 4 PublicationsCorresponds to variant dbSNP:rs28941783EnsemblClinVar.1
Natural variantiVAR_073096168E → D in AKU. 1 PublicationCorresponds to variant dbSNP:rs780173554Ensembl.1
Natural variantiVAR_009619168E → K in AKU; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs375283568Ensembl.1
Natural variantiVAR_073097169F → L in AKU. 2 PublicationsCorresponds to variant dbSNP:rs756134838Ensembl.1
Natural variantiVAR_073098171K → N in AKU. 1 Publication1
Natural variantiVAR_073099172M → T1 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 dbSNP:rs767201131Ensembl.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 dbSNP:rs562853291EnsemblClinVar.1
Natural variantiVAR_073106225R → L in AKU. 1 Publication1
Natural variantiVAR_073107225R → P in AKU. 1 PublicationCorresponds to variant dbSNP:rs562853291EnsemblClinVar.1
Natural variantiVAR_005282227F → S in AKU. 2 Publications1
Natural variantiVAR_005283230P → S in AKU; complete loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs28942100EnsemblClinVar.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 dbSNP:rs759843592Ensembl.1
Natural variantiVAR_073110269H → R in AKU. 1 PublicationCorresponds to variant dbSNP:rs756522409Ensembl.1
Natural variantiVAR_009620270G → R in AKU. 3 PublicationsCorresponds to variant dbSNP:rs120074174EnsemblClinVar.1
Natural variantiVAR_073111276K → N in AKU. 2 Publications1
Natural variantiVAR_005285291D → E in AKU. 1 PublicationCorresponds to variant dbSNP:rs754428438Ensembl.1
Natural variantiVAR_005286300V → G in AKU. 4 PublicationsCorresponds to variant dbSNP:rs120074170EnsemblClinVar.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 dbSNP:rs120074171EnsemblClinVar.1
Natural variantiVAR_073114337N → D in AKU. 1 Publication1
Natural variantiVAR_073115359P → L in AKU. 2 PublicationsCorresponds to variant dbSNP:rs764037565Ensembl.1
Natural variantiVAR_073116360G → A in AKU. 1 Publication1
Natural variantiVAR_073117360G → R in AKU. 2 PublicationsCorresponds to variant dbSNP:rs368717991Ensembl.1
Natural variantiVAR_073118361G → R in AKU. 2 PublicationsCorresponds to variant dbSNP:rs765219004Ensembl.1
Natural variantiVAR_073119362G → E in AKU. 1 Publication1
Natural variantiVAR_005287368M → V in AKU; loss of activity. 6 PublicationsCorresponds to variant dbSNP:rs120074173EnsemblClinVar.1
Natural variantiVAR_073120369T → N in AKU. 1 PublicationCorresponds to variant dbSNP:rs765912447Ensembl.1
Natural variantiVAR_008745371H → R in AKU. 1 PublicationCorresponds to variant dbSNP:rs120074172EnsemblClinVar.1
Natural variantiVAR_073121373P → L in AKU. 1 PublicationCorresponds to variant dbSNP:rs138558042Ensembl.1
Natural variantiVAR_073122374D → H in AKU. 2 PublicationsCorresponds to variant dbSNP:rs981454067Ensembl.1
Natural variantiVAR_073123401E → Q in AKU. 1 PublicationCorresponds to variant dbSNP:rs767159114EnsemblClinVar.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

Similar proteinsi

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, 5 interactors
IntActiQ93099, 6 interactors
MINTiQ93099
STRINGi9606.ENSP00000283871

PTM databases

iPTMnetiQ93099
PhosphoSitePlusiQ93099

Polymorphism and mutation databases

BioMutaiHGD

Proteomic databases

MaxQBiQ93099
PaxDbiQ93099
PeptideAtlasiQ93099
PRIDEiQ93099
ProteomicsDBi75725

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
EuPathDBiHostDB:ENSG00000113924.11
GeneCardsiHGD
GeneReviewsiHGD
H-InvDBiHIX0003593
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
OMAiHGNYTPY
OrthoDBiEOG091G11CO
PhylomeDBiQ93099
TreeFamiTF300490

Enzyme and pathway databases

UniPathwayi
UPA00139;UER00339

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

Miscellaneous databases

ChiTaRSiHGD human
EvolutionaryTraceiQ93099
GenomeRNAii3081
PROiPR:Q93099
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113924 Expressed in 138 organ(s), highest expression level in right lobe of liver
CleanExiHS_HGD
ExpressionAtlasiQ93099 baseline and differential
GenevisibleiQ93099 HS

Family and domain databases

Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR005708 Homogentis_dOase
IPR014710 RmlC-like_jellyroll
IPR011051 RmlC_Cupin_sf
PANTHERiPTHR11056 PTHR11056, 1 hit
PfamiView protein in Pfam
PF04209 HgmA, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 174 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again