Expression of HGD in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Homogentisate 1,2-dioxygenase

Protein class

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

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA047374	HPA052359

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 Show all	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] Show all	445 aa 50 kDa	No	0
HGD-005 ENSP00000417977 ENST00000475447	H7C4R8 [Direct mapping] Homogentisate 1,2-dioxygenase Show all	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	88 aa 9.8 kDa	No	0
HGD-006 ENSP00000419163 ENST00000494453	H7C576 [Direct mapping] Homogentisate 1,2-dioxygenase Show all	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	145 aa 16.2 kDa	No	0
HGD-010 ENSP00000419560 ENST00000476082	C9JTX9 [Direct mapping] Homogentisate 1,2-dioxygenase Show all	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