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This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
POT1 (Protection Of Telomeres 1) is a Protein Coding gene. Diseases associated with POT1 include Melanoma, Cutaneous Malignant 10 and Glioma Susceptibility 9. Among its related pathways are Telomere Extension by Telomerase and Meiosis. Gene Ontology (GO) annotations related to this gene include telomerase inhibitor activity and single-stranded telomeric DNA binding.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J124928 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.1 | 109 | 2.3 | BRCA1 SP1 CREB1 GATAD2A ATF7 TEAD4 ZNF629 TFE3 LEF1 IKZF1 | POT1-AS1 POT1 lnc-C7orf77-5 GPR37 | |
GH07J124992 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 0.2 | -63.2 | -63202 | 1.7 | IKZF1 JUND ZNF24 DPF2 EP300 SP1 ZNF766 HMBOX1 SMARCC2 CEBPB | POT1-AS1 piR-38129-107 EEF1GP1 POT1 | |
GH07J124918 | Enhancer | 0.6 | Ensembl | 0.4 | +11.4 | 11382 | 1.2 | SP1 RELA EED RUNX3 TCF12 JUNB BATF STAT5A ATF2 NFATC1 | POT1-AS1 POT1 lnc-C7orf77-5 lnc-C7orf77-4 GPR37 | |
GH07J124917 | Enhancer | 0.3 | Ensembl | 0.4 | +12.9 | 12882 | 1 | PRDM1 SMARCA4 | POT1-AS1 POT1 lnc-C7orf77-5 lnc-C7orf77-4 GPR37 | |
GH07J124915 | Enhancer | 0.3 | Ensembl | 0.4 | +14.2 | 14182 | 1.2 | PRDM1 DACH1 | POT1-AS1 POT1 lnc-C7orf77-5 lnc-C7orf77-4 GPR37 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 12768206 |
GO:0010521 | telomerase inhibitor activity | IDA | 15632080 |
GO:0017151 | DEAD/H-box RNA helicase binding | IPI | 16030011 |
GO:0042162 | telomeric DNA binding | IDA | 23685356 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000781 | chromosome, telomeric region | IEA,IDA | 12768206 |
GO:0000783 | nuclear telomere cap complex | IBA,IDA | 16880378 |
GO:0000784 | nuclear chromosome, telomeric region | IEA,IDA | 23685356 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cellular Senescence (REACTOME) | ||
2 | Chromosome Maintenance | ||
3 | DNA Damage/Telomere Stress Induced Senescence | ||
4 | Meiosis |
.73
|
.66
|
5 | Apoptotic Pathways in Synovial Fibroblasts |
Telomerase Components in Cell Signaling
.72
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000723 | telomere maintenance | IEA | -- |
GO:0007004 | telomere maintenance via telomerase | IDA | 12768206 |
GO:0016233 | telomere capping | IMP,TAS | 17237768 |
GO:0032202 | telomere assembly | IDA | 16043710 |
GO:0032210 | regulation of telomere maintenance via telomerase | IBA,IGI | 26586433 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 21b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | POT1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pot1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pot1a 30 17 31 |
|
OneToMany | |
Pot1b 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | POT1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | POT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | POT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pot1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pot1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10644 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640246 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,870,980(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
640872 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,827,216(-) | A/AATCCATGAGATAG | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION | |
641709 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10; Hereditary cancer-predisposing syndrome | 124,842,886(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
642122 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10; Hereditary cancer-predisposing syndrome | 124,863,447(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
642235 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,835,373(-) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
melanoma, cutaneous malignant 10 |
|
|
glioma susceptibility 9 |
|
|
leukemia, chronic lymphocytic |
|
|
inherited cancer-predisposing syndrome |
|
|
anaplastic oligodendroglioma |
|
|