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) 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
