HGD - homogentisate 1,2-dioxygenase Gene

Also Known as AKU; HGO

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3081

About HGD

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:120,628,172-120,682,239 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Biased expression in liver (RPKM 82.5), kidney (RPKM 39.4) and 7 other tissues.

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]

HGD Products (1)

mRNA	Protein	Name
NM_000187.4	NP_000178.2	homogentisate 1,2-dioxygenase

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables homogentisate 1,2-dioxygenase activity	IMP IMP: Inferred from mutant phenotype	8782815	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HGD Protein Structure

HgmA

0
100
200
300
400
445 a.a.

Protein Preferred Names	Protein Names
homogentisate 1,2-dioxygenase	homogentisate oxidase

HGD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	HGD	Q93099	HGD	Homo sapiens	Q93099	Y2H Prey Pooling	32296183
Intra	HGD	Q93099	HGD	Homo sapiens	Q93099	Y2H Array	25416956
Intra	HGD	Q93099	HGD	Homo sapiens	Q93099	Y2H Array	32296183
Intra	HGD	Q93099	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	HGD	Q93099	GIT2	Homo sapiens	Q14161	Y2H Array	21988832
Intra	HGD	Q93099	HGD	Homo sapiens	Q93099	Validated Y2H	32296183
Intra	HGD	Q93099	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Alkaptonuria	Homogentisic Acid Oxidase Deficiency Alcaptonuria AKU Deficiency Of Homogentisicase Homogentisate 1,2-Dioxygenase Deficiency Alkaptonuric Ochronosis Homogentisic Acidura Ochronosis, Hereditary Hereditary Ochronosis Ochronosis Homogentisicaciduria Deficiency Of Homogentisate Oxygenase
Ochronosis
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Aortic Valve Disease 2	Aortic Valve Stenosis Aortic Stenosis Rheumatic Aortic Stenosis AOVD2 Bicuspid Aortic Valve Rheumatic Aortic Valve Stenosis Valvular Aortic Stenosis Aortic Valve Disease, Type 2 Aortic Valve Stricture Aortic Valve Obstruction Obstructed Aorta Valve Rheumatic Aortic Obstruction Rheumatic Aortic Valve Obstruction Rheumatic Aortic Stricture Aortic Valve Regurgitation Aortic Insufficiency With Stenosis Rheumatic Aortic Valve Stenosis With Insufficiency Rheumatic Aortic Stenosis With Incompetence Rheumatic Aortic Stenosis With Regurgitation
Pentosuria	Xylitol Dehydrogenase Deficiency L-Xylulosuria L-Xylulose Reductase Deficiency Essential Pentosuria PNTSU Essential Benign Pentosuria
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratoelastoidosis Of Costa Ake Punctate Palmoplantar Keratoderma Type Iii PPKP3 Keratoderma, Palmoplantar, Punctate Type 3 Punctate Palmoplantar Hyperkeratosis Type 3 Punctate Palmoplantar Keratoderma Type 3 Rare Form Of Hirschsprung'S Disease Acrokeratoelastoidosis Collagenous Plaques Of Hands And Feet Aganglionosis, Total Intestinal Collagenous Plaques Of Hand And Feet Palmoplantar Keratoderma, Punctate Type 3 Aganglionosis, Total Colonic Ntia Near-Total Intestinal Aganglionosis Tia
Tyrosinemia, Type Ii	Tyrosinemia Type Ii Oculocutaneous Tyrosinemia Richner-Hanhart Syndrome Tyrosine Aminotransferase Deficiency Tat Deficiency Tyrosine Transaminase Deficiency Keratosis Palmoplantaris With Corneal Dystrophy TYRSN2 Oregon Type Tyrosinemia Tyrosinemia Type 2 Tyrosinosis Oculocutaneous Type Tyrosinosis, Oculocutaneous Type Richner Hanhart Syndrome Keratosis Palmoplantaris-Corneal Dystrophy Syndrome Tyrosinemia Due To Tat Deficiency Tyrosinemia Due To Tyrosine Aminotransferase Deficiency Tyrosinemia 2 Tyrosinemia Oregon Type Tyrosine Transaminase Deficiency Disease
Human Granulocytic Anaplasmosis	Human Granulocytic Ehrlichiosis Hge Human Ehrlichial Infection, Human Granulocytic Type Human Anaplasmosis Due To Anaplasma Phagocytophilum
Tyrosinemia, Type Iii	Tyrosinemia Type Iii 4-Hydroxyphenylpyruvate Dioxygenase Deficiency TYRSN3 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Type 3 4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To Hpd Deficiency Tyrosinemia 3
Tyrosinemia, Type I	Tyrosinemia Type I Hepatorenal Tyrosinemia Fumarylacetoacetase Deficiency Fah Deficiency TYRSN1 Fumarylacetoacetate Hydrolase Deficiency Tyrosinemia Type 1 Tyrosinemia 1 Fumarylacetoacetase
Conjunctival Pigmentation
Abdominal Obesity-Metabolic Syndrome 1	Metabolic Syndrome X Metabolic Syndrome AOMS1 Dysmetabolic Syndrome X Metabolic Disease Abdominal Obesity Metabolic Syndrome
Tyrosinemia	Hypertyrosinemia Tyrosinemias Hereditary Tyrosinemia Hypertyrosinaemia Tyrosinaemia Hereditary Hypertyrosinemia
Sialolithiasis	Sialolith Stone Of Salivary Gland Or Duct Salivary Gland Calculi Salivary Gland Stone Calculus Of Salivary Gland Or Duct Calculus Of Salivary Gland Salivary Calculus Salivary Gland Calculus Salivary Stone Salivary Duct Calculi Sialodocholithiasis
Ehrlichiosis	Human Ehrlichiosis He Hey
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-103641AS1	(2R)-Octyl-α-hydroxyglutarate-d17		/	Unkown
HY-RS06151	HGD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17679	Hgd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24140	Hgd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HGD	MGD	MGI:96078
Macaca mulatta	HGD	VGNC	VGNC:73372
Rattus norvegicus	HGD	RGD	RGD:1308757
Canis familiaris	HGD	VGNC	VGNC:41673
Bos taurus	HGD	VGNC	VGNC:29833
Felis catus	HGD	VGNC	VGNC:67563
Others	HGD	NCBI