Description
GTP cyclohydrolase 1 [Source:HGNC Symbol;Acc:4193]
Gene Synonyms
DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
Location
Chromosome 14: 55,308,726-55,369,570 reverse strand.
GRCh37:CM000676.1
About this gene
This gene has 6 transcripts (splice variants) and is associated with 8 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000491895.2 | GCH1-002 | 2943 | 250aa | ENSP00000419045.2 | Protein coding | CCDS9720 | P30793 Q8IZH9 Q96T74 | NM_000161.2 | GENCODE basic, |
ENST00000395514.1 | GCH1-201 | 1977 | 250aa | ENSP00000378890.1 | Protein coding | CCDS9720 | P30793 Q8IZH9 Q96T74 | NM_001024024.1 | GENCODE basic, |
ENST00000543643.2 | GCH1-003 | 1897 | 233aa | ENSP00000444011.2 | Protein coding | CCDS41954 | P30793 | NM_001024070.1 | GENCODE basic, |
ENST00000536224.2 | GCH1-004 | 1805 | 213aa | ENSP00000445246.2 | Protein coding | CCDS45110 | P30793 | NM_001024071.1 | GENCODE basic, |
ENST00000254299.4 | GCH1-001 | 2901 | No protein | - | Processed transcript | - | - | - | |
ENST00000395521.6 | GCH1-005 | 351 | No protein | - | Processed transcript | - | - | - |