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HGD

GENERAL INFORMATION

Gene name

 HGD

Gene description

 Homogentisate 1,2-dioxygenase

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (liver, kidney)
GTEx:Tissue enhanced (liver)
FANTOM5:Tissue enhanced (liver)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in a subset of tissues including liver, kidney, gallbladder, gastrointestinal tract, prostate and thyroid gland.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA047374 , HPA052359
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (liver, kidney)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (liver)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (liver)

GENE INFORMATION

Gene name

 HGD (HGNC Symbol)

Synonyms

 AKU, HGO

Description

 Homogentisate 1,2-dioxygenase (HGNC Symbol)

Entrez gene summary

 This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]

Chromosome

 3

Cytoband

 q13.33

Chromosome location (bp)

 120628173 - 120682571

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000113924 (version 83.38)

Entrez gene

 3081

UniProt

 Q93099 (UniProt - Evidence at protein level)

neXtProt

 NX_Q93099

Antibodypedia

 HGD antibodies

PROTEIN BROWSER
HGD-001
HGD-005
HGD-006
HGD-010

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HGD-001
ENSP00000283871
ENST00000283871
Q93099 [Direct mapping]
Homogentisate 1,2-dioxygenase
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004411 [homogentisate 1,2-dioxygenase activity]
GO:0005829 [cytosol]
GO:0006520 [cellular amino acid metabolic process]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006570 [tyrosine metabolic process]
GO:0006572 [tyrosine catabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
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 445 aa
50 kDa 		No 0
HGD-005
ENSP00000417977
ENST00000475447
H7C4R8 [Direct mapping]
Homogentisate 1,2-dioxygenase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004411 [homogentisate 1,2-dioxygenase activity]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006570 [tyrosine metabolic process]
GO:0055114 [oxidation-reduction process]
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 88 aa
9.8 kDa 		No 0
HGD-006
ENSP00000419163
ENST00000494453
H7C576 [Direct mapping]
Homogentisate 1,2-dioxygenase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004411 [homogentisate 1,2-dioxygenase activity]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006570 [tyrosine metabolic process]
GO:0055114 [oxidation-reduction process]
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 145 aa
16.2 kDa 		No 0
HGD-010
ENSP00000419560
ENST00000476082
C9JTX9 [Direct mapping]
Homogentisate 1,2-dioxygenase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004411 [homogentisate 1,2-dioxygenase activity]
GO:0006559 [L-phenylalanine catabolic process]
GO:0006570 [tyrosine metabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 142 aa
16.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.