Description
tyrosine hydroxylase [Source:HGNC Symbol;Acc:11782]
Gene Synonyms
DYT14, DYT5b, TYH
Location
Chromosome 11: 2,185,159-2,193,107 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 11 transcripts (splice variants), 3 paralogues and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000381178.1 | TH-002 | 1910 | 528aa | ENSP00000370571.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7731 | P07101 P78428 Q6XS77 Q8IZE1 Q9NP14 Q9UQ57 | NM_199292.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000381175.1 | TH-003 | 1898 | 524aa | ENSP00000370567.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31338 | O43816 P07101 Q6XS77 Q8IZE1 | NM_199293.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000352909.3 | TH-001 | 1889 | 497aa | ENSP00000325951.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7730 | P07101 Q16846 Q6XS77 Q7KZ39 Q8IZE1 | NM_000360.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000333684.5 | TH-201 | 1536 | 407aa | ENSP00000328814.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q0PWM2 Q0PWM3 Q15587 Q6XS77 Q7KZ36 Q7KZ38 Q7KZ44 Q8IZE1 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000412076.1 | TH-005 | 347 | 116aa | ENSP00000403546.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q8IZE1 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000324155.4 | TH-006 | 1115 | 44aa | ENSP00000325831.3 | Nonsense mediated decay | F8W8M5 Q6XS77 | - | - | |
ENST00000381168.3 | TH-007 | 985 | 48aa | ENSP00000370560.3 | Nonsense mediated decay | E7EQI0 Q6XS77 | - | - | |
ENST00000416223.1 | TH-004 | 483 | 45aa | ENSP00000403440.1 | Nonsense mediated decay | Q8IZE1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000469226.1 | TH-009 | 963 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000461172.1 | TH-010 | 839 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000479437.1 | TH-008 | 745 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |