Description
protection of telomeres 1 [Source:HGNC Symbol;Acc:17284]
Gene Synonyms
DKFZp586D211, HPOT1, hPot1
Location
Chromosome 7: 124,462,440-124,570,037 reverse strand.
GRCh37:CM000669.1
About this gene
This gene has 19 transcripts (splice variants), 210 orthologues and is associated with 65 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000357628.3 | POT1-001 | 4080 | 634aa | ENSP00000350249.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5793 | A8MTK3 C9JPG9 Q9NUX5 | NM_015450.2 | 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, |
| ENST00000393329.1 | POT1-201 | 3950 | 503aa | ENSP00000377002.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MTK3 | NM_001042594.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000446993.1 | POT1-003 | 806 | 82aa | ENSP00000388921.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JPG9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000609702.1 | POT1-013 | 593 | 73aa | ENSP00000477258.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000608200.1 | POT1-016 | 549 | 86aa | ENSP00000477320.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000436534.1 | POT1-008 | 542 | 138aa | ENSP00000416820.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000610141.1 | POT1-014 | 405 | 119aa | ENSP00000476673.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000487564.1 | POT1-010 | 368 | 77aa | ENSP00000476290.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000609106.1 | POT1-019 | 2780 | 580aa | ENSP00000476981.1 | Nonsense mediated decay | B7Z7M5 C9JPG9 | - | - | |
| ENST00000608057.1 | POT1-012 | 2036 | 340aa | ENSP00000476371.1 | Nonsense mediated decay | C9JPG9 Q5MJ35 | - | - | |
| ENST00000607932.1 | POT1-011 | 1827 | 518aa | ENSP00000476506.1 | Nonsense mediated decay | C9JPG9 Q5MJ34 | - | - | |
| ENST00000430927.1 | POT1-009 | 587 | 85aa | ENSP00000397632.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000429326.1 | POT1-006 | 579 | 45aa | ENSP00000403088.1 | Nonsense mediated decay | Q5MJ33 | - | - | |
| ENST00000461288.1 | POT1-004 | 717 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000608261.1 | POT1-018 | 681 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000608437.1 | POT1-017 | 563 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000464453.1 | POT1-005 | 307 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000466483.1 | POT1-007 | 641 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000608126.1 | POT1-015 | 582 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
