Gene

hgd

ID
ZDB-GENE-020802-5
Name
homogentisate 1,2-dioxygenase
Symbol
hgd Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to have homogentisate 1,2-dioxygenase activity. Predicted to be involved in L-phenylalanine catabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in alkaptonuria. Is expressed in digestive system; fin; median fin fold; pectoral fin bud; and retina. Orthologous to human HGD (homogentisate 1,2-dioxygenase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hgd Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
alkaptonuria Alliance Alkaptonuria 203500
Associated With hgd Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR046451 Homogentisate 1,2-dioxygenase, C-terminal domain
Domain IPR046452 Homogentisate 1,2-dioxygenase, N-terminal domain
Family IPR005708 Homogentisate 1,2-dioxygenase
Homologous_superfamily IPR011051 RmlC-like cupin domain superfamily
Homologous_superfamily IPR014710 RmlC-like jelly roll fold
Domain Details Per Protein
Protein Length Homogentisate 1,2-dioxygenase Homogentisate 1,2-dioxygenase, C-terminal domain Homogentisate 1,2-dioxygenase, N-terminal domain RmlC-like cupin domain superfamily RmlC-like jelly roll fold
UniProtKB:Q6P2V4 443
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations