homogentisate 1,2-dioxygenase [Source:HGNC Symbol;Acc:4892]
AKU, HGO
Chromosome 3: 120,347,020-120,401,418 reverse strand.
GRCh37:CM000665.1
This gene has 10 transcripts (splice variants) and is associated with 2 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000283871.5 | HGD-001 | 2005 | 445aa | ENSP00000283871.5 | Protein coding | CCDS3000 | B3KW64 Q93099 | NM_000187.3 | Ensembl Canonical, GENCODE basic, |
ENST00000494453.1 | HGD-006 | 683 | 145aa | ENSP00000419163.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000475447.2 | HGD-005 | 565 | 88aa | ENSP00000417977.2 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000476082.2 | HGD-010 | 462 | 142aa | ENSP00000419560.2 | Protein coding | C9JTX9 | - | CDS 3' incomplete, | |
ENST00000492108.1 | HGD-009 | 631 | 98aa | ENSP00000419838.1 | Nonsense mediated decay | H7C5G7 | - | CDS 5' incomplete, | |
ENST00000488183.1 | HGD-003 | 572 | No protein | - | Processed transcript | - | - | - | |
ENST00000485313.1 | HGD-007 | 528 | No protein | - | Processed transcript | - | - | - | |
ENST00000480862.1 | HGD-002 | 656 | No protein | - | Retained intron | - | - | - | |
ENST00000470321.1 | HGD-004 | 528 | No protein | - | Retained intron | - | - | - | |
ENST00000466528.1 | HGD-008 | 444 | No protein | - | Retained intron | - | - | - |