Description
thiamin pyrophosphokinase 1 [Source:HGNC Symbol;Acc:17358]
Gene Synonyms
HTPK1, PP20, THMD5
Location
Chromosome 7: 144,149,034-144,533,488 reverse strand.
GRCh37:CM000669.1
About this gene
This gene has 14 transcripts (splice variants) and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000360057.3 | TPK1-001 | 2439 | 243aa | ENSP00000353165.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5888 | F8VRJ6 Q75MX1 Q9H3S4 | NM_022445.3 | 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, |
| ENST00000549981.1 | TPK1-202 | 2806 | 124aa | ENSP00000448698.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | I6L9B8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000378099.3 | TPK1-201 | 2283 | 194aa | ENSP00000367339.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55178 | F5GZG6 | NM_001042482.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000538212.2 | TPK1-014 | 2243 | 189aa | ENSP00000438813.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q6ZQX6 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000552881.1 | TPK1-007 | 581 | 166aa | ENSP00000448655.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VRJ6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000482940.1 | TPK1-004 | 2815 | 79aa | ENSP00000449909.1 | Nonsense mediated decay | F8VVJ1 | - | - | |
| ENST00000378098.4 | TPK1-002 | 1920 | 121aa | ENSP00000367338.4 | Nonsense mediated decay | F8WCM7 | - | - | |
| ENST00000489798.1 | TPK1-006 | 440 | 42aa | ENSP00000450028.1 | Nonsense mediated decay | F8VPB3 | - | - | |
| ENST00000547966.1 | TPK1-012 | 747 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548831.1 | TPK1-011 | 558 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548460.1 | TPK1-008 | 519 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000546806.1 | TPK1-009 | 460 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000551062.1 | TPK1-013 | 440 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000481645.1 | TPK1-003 | 4429 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
