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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi335Iron1
Metal bindingi341Iron1
Metal bindingi371Iron1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

  • cellular amino acid metabolic process Source: GO_Central
  • L-phenylalanine catabolic process Source: GO_Central
  • tyrosine catabolic process Source: ProtInc

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS03728-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
1.13.11.5 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-71182 Phenylalanine and tyrosine catabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00139;UER00339

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Homogentisate 1,2-dioxygenase (EC:1.13.11.5)
Alternative name(s):
Homogentisate oxygenase
Homogentisic acid oxidase
Homogentisicase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HGD
Synonyms:HGO
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000113924.11

Human Gene Nomenclature Database

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HGNCi
HGNC:4892 HGD

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607474 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q93099

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0730763E → A in AKU. 1 PublicationCorresponds to variant dbSNP:rs200412910EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1324654414Ensembl.1
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:rs569846003EnsemblClinVar.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:rs375396766EnsemblClinVar.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:rs765219004EnsemblClinVar.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:rs765912447EnsemblClinVar.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:rs981454067EnsemblClinVar.1
Natural variantiVAR_073123401E → Q in AKU. 1 PublicationCorresponds to variant dbSNP:rs767159114EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
3081

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
HGD

MalaCards human disease database

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MalaCardsi
HGD
MIMi203500 phenotype

Open Targets

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OpenTargetsi
ENSG00000113924

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
56 Alkaptonuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29268

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HGD

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002202401 – 445Homogentisate 1,2-dioxygenaseAdd BLAST445

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei98N6-acetyllysineCombined sources1
Modified residuei414N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
Q93099

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q93099

PeptideAtlas

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PeptideAtlasi
Q93099

PRoteomics IDEntifications database

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PRIDEi
Q93099

ProteomicsDB human proteome resource

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ProteomicsDBi
75725

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q93099

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q93099

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000113924 Expressed in 138 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

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CleanExi
HS_HGD

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q93099 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q93099 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA047374
HPA052359

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homohexamer arranged as a dimer of trimers.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109329, 5 interactors

Protein interaction database and analysis system

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IntActi
Q93099, 6 interactors

Molecular INTeraction database

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MINTi
Q93099

STRING: functional protein association networks

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STRINGi
9606.ENSP00000283871

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q93099

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q93099

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q93099

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the homogentisate dioxygenase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1417 Eukaryota
COG3508 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000004601

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000139824

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005965

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q93099

KEGG Orthology (KO)

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KOi
K00451

Identification of Orthologs from Complete Genome Data

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OMAi
RGYLCEN

Database of Orthologous Groups

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OrthoDBi
EOG091G11CO

Database for complete collections of gene phylogenies

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PhylomeDBi
Q93099

TreeFam database of animal gene trees

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TreeFami
TF300490

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005708 Homogentis_dOase
IPR014710 RmlC-like_jellyroll
IPR011051 RmlC_Cupin_sf

The PANTHER Classification System

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PANTHERi
PTHR11056 PTHR11056, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF04209 HgmA, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51182 SSF51182, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01015 hmgA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF99B51C134FFF965
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JTX9C9JTX9_HUMAN
Homogentisate 1,2-dioxygenase
HGD
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5G7H7C5G7_HUMAN
Homogentisate 1,2-dioxygenase
HGD
98Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C4R8H7C4R8_HUMAN
Homogentisate 1,2-dioxygenase
HGD
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs200412910EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1324654414Ensembl.1
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:rs569846003EnsemblClinVar.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:rs375396766EnsemblClinVar.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:rs765219004EnsemblClinVar.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:rs765912447EnsemblClinVar.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:rs981454067EnsemblClinVar.1
Natural variantiVAR_073123401E → Q in AKU. 1 PublicationCorresponds to variant dbSNP:rs767159114EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3000.1

NCBI Reference Sequences

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RefSeqi
NP_000178.2, NM_000187.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.368254

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000283871; ENSP00000283871; ENSG00000113924

Database of genes from NCBI RefSeq genomes

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GeneIDi
3081

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3081

UCSC genome browser

More...
UCSCi
uc003edw.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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

The DNASU plasmid repository

More...
DNASUi
3081
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3081
DisGeNETi3081
EuPathDBiHostDB:ENSG00000113924.11

GeneCards: human genes, protein and diseases

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GeneCardsi
HGD
GeneReviewsiHGD

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0003593
HGNCiHGNC:4892 HGD
HPAiHPA047374
HPA052359
MalaCardsiHGD
MIMi203500 phenotype
607474 gene
neXtProtiNX_Q93099
OpenTargetsiENSG00000113924
Orphaneti56 Alkaptonuria
PharmGKBiPA29268

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1417 Eukaryota
COG3508 LUCA
GeneTreeiENSGT00390000004601
HOGENOMiHOG000139824
HOVERGENiHBG005965
InParanoidiQ93099
KOiK00451
OMAiRGYLCEN
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
HGD human
EvolutionaryTraceiQ93099

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3081

Protein Ontology

More...
PROi
PR:Q93099

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHGD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q93099
Secondary accession number(s): A8K417, B2R8Z0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: December 5, 2018
This is version 177 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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