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 |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000549981.1 | TPK1-202 | 2806 | 124aa | ENSP00000448698.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | I6L9B8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000538212.2 | TPK1-014 | 2243 | 189aa | ENSP00000438813.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q6ZQX6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
