Human (GRCh38.p14)
Description

homogentisate 1,2-dioxygenase [Source:HGNC Symbol;Acc:HGNC:4892]

Gene Synonyms

AKU, HGO

Location

Chromosome 3: 120,628,172-120,682,269 reverse strand.

GRCh38:CM000665.2

About this gene

This gene has 10 transcripts (splice variants), 203 orthologues and is associated with 2 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000283871.10HGD-2011674445aaENSP00000283871.5
 
Protein coding
CCDS3000Q93099 NM_000187.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000494453.1HGD-210683145aaENSP00000419163.1
 
Protein coding
H7C576 -TSL:3CDS 5' incomplete
ENST00000475447.2HGD-20456588aaENSP00000417977.2
 
Protein coding
H7C4R8 -TSL:3CDS 5' incomplete
ENST00000476082.2HGD-205462142aaENSP00000419560.2
 
Protein coding
C9JTX9 -TSL:5CDS 3' incomplete
ENST00000492108.5HGD-20963198aaENSP00000419838.1
 
Nonsense mediated decay
H7C5G7 -TSL:2CDS 5' incomplete
ENST00000488183.5HGD-208572No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000485313.5HGD-207528No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000480862.1HGD-206656No protein-
 
Retained intron
--TSL:2
ENST00000470321.1HGD-203528No protein-
 
Retained intron
--TSL:3
ENST00000466528.5HGD-202444No protein-
 
Retained intron
--TSL:2