ENSG00000113924


Homo sapiens

Features
Gene ID: ENSG00000113924
  
Biological name :HGD
  
Synonyms : HGD / homogentisate 1,2-dioxygenase / Q93099
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q13.33
Gene start: 120628173
Gene end: 120682571
  
Corresponding Affymetrix probe sets: 205221_at (Human Genome U133 Plus 2.0 Array)   214307_at (Human Genome U133 Plus 2.0 Array)   214308_s_at (Human Genome U133 Plus 2.0 Array)   237029_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000283871
Ensembl peptide - ENSP00000419163
Ensembl peptide - ENSP00000419560
Ensembl peptide - ENSP00000419838
Ensembl peptide - ENSP00000417977
NCBI entrez gene - 3081     See in Manteia.
OMIM - 607474
RefSeq - XM_017006277
RefSeq - NM_000187
RefSeq - XM_005247412
RefSeq - XM_005247413
RefSeq - XM_005247414
RefSeq - XM_011512746
RefSeq Peptide - NP_000178
swissprot - Q93099
swissprot - H7C4R8
swissprot - H7C576
swissprot - H7C5G7
swissprot - C9JTX9
Ensembl - ENSG00000113924
  
Related genetic diseases (OMIM): 203500 - Alkaptonuria, 203500
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hgdENSDARG00000058005Danio rerio
 HGDENSGALG00000014966Gallus gallus
 HgdENSMUSG00000022821Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005708  Homogentisate 1,2-dioxygenase
 IPR011051  RmlC-like cupin domain superfamily
 IPR014710  RmlC-like jelly roll fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006520 cellular amino acid metabolic process IEA
 biological_processGO:0006559 L-phenylalanine catabolic process IEA
 biological_processGO:0006570 tyrosine metabolic process IEA
 biological_processGO:0006572 tyrosine catabolic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004411 homogentisate 1,2-dioxygenase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Phenylalanine and tyrosine catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000024 Prostatitis 
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 HP:0000079 Abnormality of the urinary tract 
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 HP:0000364 Hearing abnormality 
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 HP:0000366 Abnormality of the nose 
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 HP:0000504 Abnormality of vision "Abnormality of eyesight (visual perception)." [HPO:curators]
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 HP:0000592 Blue sclerae 
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 HP:0000598 Abnormality of the ears 
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 HP:0000787 Kidney stones 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001369 Arthritis 
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 HP:0001373 Joint dislocation "Displacement or malalignment of joints." [HPO:curators]
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 HP:0001386 Joint swelling 
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 HP:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
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 HP:0001507 Growth abnormality 
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001658 Myocardial infarction 
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 HP:0001717 Coronary artery calcification 
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 HP:0001939 Metabolism abnormality 
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 HP:0002621 Atherosclerosis "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators]
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 HP:0002758 Osteoarthritis 
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 HP:0002808 Kyphosis 
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 HP:0002829 Arthralgia 
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 HP:0002948 Vertebral fusion "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators]
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 HP:0003040 Arthropathy 
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 HP:0003355 Abnormal urinary amino-acid findings 
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 HP:0003418 Back pain 
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 HP:0004349 Reduced bone mineral density "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators]
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 HP:0004380 Aortic valve calcification 
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 HP:0004382 Mitral valve calcification 
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 HP:0004690 Thickened Achilles tendon 
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 HP:0004942 Aortic aneurysms 
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 HP:0005645 Multiple intervertebral disk calcifications 
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 HP:0007400 Irregular hyperpigmentation 
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 HP:0007832 Pigmentation of the sclera 
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 HP:0008419 Degeneration of intervertebral disks 
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 HP:0100550 Rupture of tendons 
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 HP:0100593 Calcification of cartilage 
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 HP:0100773 Cartilage destruction 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000113924 HGD / Q93099 / homogentisate 1,2-dioxygenase  / complex






 

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