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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 chromos... See more...
Aliases for POT1 Gene
Aliases for POT1 Gene
External Ids for POT1 Gene
- HGNC: 17284
- NCBI Entrez Gene: 25913
- Ensembl: ENSG00000128513
- OMIM®: 606478
- UniProtKB/Swiss-Prot: Q9NUX5
Previous GeneCards Identifiers for POT1 Gene
- GC07M122941
- GC07M124003
- GC07M124017
- GC07M124016
- GC07M124057
- GC07M124250
- GC07M124462
- GC07M118827
Summaries for POT1 Gene
-
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]
GeneCards Summary for POT1 Gene
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 Chromosome Maintenance. Gene Ontology (GO) annotations related to this gene include telomerase inhibitor activity and single-stranded telomeric DNA binding.
UniProtKB/Swiss-Prot Summary for POT1 Gene
-
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity.
Additional gene information for POT1 Gene
- HGNC (17284)
- NCBI Entrez Gene (25913)
- Ensembl (ENSG00000128513)
- OMIM® (606478)
- UniProtKB/Swiss-Prot (Q9NUX5)
- Open Targets Platform(ENSG00000128513)
- Monarch Initiative
- Search for POT1 at DataMed
- Search for POT1 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POT1 Gene
Genomics for POT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for POT1 Gene
| 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 | 250.7 | +0.3 | 309 | 1.9 | CHD2 TBP SP1 MXD4 CEBPA ZNF217 MNT IKZF1 SMAD5 MBD2 | POT1-AS1 POT1 lnc-C7orf77-5 GPR37 | |
| GH07J125090 | Enhancer | 0.3 | Ensembl | 13.1 | -160.9 | -160918 | 0.2 | RAD51 TOE1 | POT1-AS1 POT1 piR-35729-060 piR-32023-230 | |
| GH07J124992 | Promoter/Enhancer | 1.6 | EPDnew Ensembl ENCODE | 0.2 | -63.3 | -63294 | 1.8 | IKZF1 CEBPB MBD2 EP300 STAT3 FOSL1 PRDM10 NFE2 ATF1 SMARCA4 | POT1-AS1 piR-38129-107 EEF1GP1 POT1 | |
| GH07J124898 | Enhancer | 0.5 | Ensembl | 0.3 | +31.1 | 31082 | 0.6 | ZNF316 NFE2 MAFG NFE2L2 MAFK | POT1-AS1 lnc-C7orf77-5 POT1 lnc-C7orf77-4 GPR37 | |
| GH07J124839 | Enhancer | 0.7 | Ensembl ENCODE | 0.2 | +89.9 | 89939 | 1.1 | CTCF HOMEZ FOXA2 RAD21 SOX5 ARID3A MIXL1 SMC3 | POT1-AS1 lnc-C7orf77-2 HSALNG0061059 GPR37 POT1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around POT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POT1
- Top Transcription factor binding sites by QIAGEN in the POT1 gene promoter:
-
- Cart-1
- Evi-1
- FOXO1
- FOXO1a
- GATA-1
- GATA-2
- POU2F1
- POU2F1a
- POU2F1b
- POU2F1c
Genomic Locations for POT1 Gene
Latest Assembly
- chr7:124,822,386-124,929,983
- (GRCh38/hg38)
- Size:
- 107,598 bases
- Orientation:
- Minus strand
Previous Assembly
- chr7:124,462,440-124,569,879
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 107,440 bases
- Orientation:
- Minus strand
- chr7:124,462,440-124,570,037
- (GRCh37/hg19 by Ensembl)
- Size:
- 107,598 bases
- Orientation:
- Minus strand
Genomic View for POT1 Gene
Genes around POT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q31.33 by HGNC
- 7q31.33 by Entrez Gene
- 7q31.33 by Ensembl
POT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for POT1 Gene
Proteins for POT1 Gene
-
Protein details for POT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NUX5-POTE1_HUMAN
- Recommended name:
- Protection of telomeres protein 1
- Protein Accession:
- Q9NUX5
- O95018
- Q5MJ36
- Q9H662
- Q9NW19
- Q9UG95
Protein attributes for POT1 Gene
- Size:
- 634 amino acids
- Molecular mass:
- 71442 Da
- Quaternary structure:
-
- Homodimer or homooligomer (PubMed:17237768). Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP, ACD and POT1 (PubMed:15316005, PubMed:15383534). Binds single-stranded telomeric DNA as a monomer (PubMed:15558049). Associated component of the telomerase holoenzyme complex (PubMed:19179534). Found in a complex with TERF1, TINF2 and TNKS1 (PubMed:12768206). Interacts with TNKS1. Forms heterodimers with ACD (PubMed:15231715). Identified in a complex with ACD and single-stranded telomeric DNA (PubMed:17237768).
- SequenceCaution:
-
- Sequence=BAB15404.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for POT1 Gene
Protein Expression for POT1 Gene
Post-translational modifications for POT1 Gene
Other Protein References for POT1 Gene
- ENSEMBL proteins:
-
- ENSP00000350249
- ENSP00000397632
- ENSP00000499382
- ENSP00000499528
- ENSP00000499781
- ENSP00000499524
- ENSP00000499488
- ENSP00000499476
- ENSP00000499506
- ENSP00000499290
- ENSP00000499635
- ENSP00000499546
- ENSP00000499395
- ENSP00000499425
- ENSP00000499533
- ENSP00000476981
- ENSP00000476506
- ENSP00000476371
- ENSP00000388921
- ENSP00000403088
- ENSP00000477258
- ENSP00000377002
- Q9NUX5.185
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ POT1 Antibody
- Novus Biologicals Antibodies for POT1
-
Abcam antibodies for POT1
- Invitrogen Antibodies for POT1 (AFLGC-POT1)
-
Biorbyt antibodies for POT1
-
Custom Antibody ServicesProSci Antibodies for POT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for POT1
Protein products for research
-
OriGene Purified Proteins for POT1
- Search Origene for MassSpec and Protein Over-expression Lysates for POT1
- Origene Custom Protein Services for POT1
-
Abcam proteins for POT1
Assay products for research
- antibodies-online: Show 8 available POT1 Elisa Kits ranked by validation data
- Compare Top POT1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for POT1 Gene
Domains & Families for POT1 Gene
Gene Families for POT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for POT1 Gene
- InterPro:
- Blocks:
-
- Telomere end binding protein
- ProtoNet:
Suggested Antigen Peptide Sequences for POT1 Gene
- GenScript: Design optimal peptide antigens:
-
- POT1-like telomere end-binding protein (POTE1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NUX5- Family:
-
- Belongs to the telombin family.
Function for POT1 Gene
Molecular function for POT1 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity.
Phenotypes From GWAS Catalog for POT1 Gene
| 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 |
Phenotypes for POT1 Gene
- MGI mutant phenotypes for POT1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for POT1:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Decreased viability in esophageal squamous lineage
- Decreased viability ratio
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased viability
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased CFP-tsO45G cell surface transport
- Decreased Salmonella proliferation
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for POT1 - Starting at $85 >
- * POT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for POT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for POT1
miRNA for POT1 Gene
- miRTarBase miRNAs that target POT1
-
- hsa-miR-3149 (MIRT516757)
- hsa-miR-190a-3p (MIRT516758)
- hsa-miR-8068 (MIRT516759)
- hsa-miR-4762-5p (MIRT516760)
- hsa-miR-410-3p (MIRT516761)
- hsa-miR-33a-3p (MIRT516762)
- hsa-miR-1277-5p (MIRT516763)
- hsa-miR-3941 (MIRT550958)
- hsa-miR-6867-5p (MIRT550959)
- hsa-miR-223-5p (MIRT550960)
- hsa-miR-511-3p (MIRT550961)
- hsa-miR-5011-5p (MIRT550962)
- hsa-miR-603 (MIRT550963)
- hsa-miR-362-3p (MIRT550964)
- hsa-miR-329-3p (MIRT550965)
- hsa-miR-8485 (MIRT550966)
- hsa-miR-4999-3p (MIRT610814)
- hsa-miR-8066 (MIRT610815)
- hsa-miR-6835-3p (MIRT610816)
- hsa-miR-548e-5p (MIRT610817)
- hsa-miR-6820-3p (MIRT626025)
- hsa-miR-3164 (MIRT626026)
- hsa-miR-3118 (MIRT626027)
- hsa-miR-134-5p (MIRT626028)
- hsa-miR-4501 (MIRT626029)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POT1
- Browse OriGene Inhibitory RNA Products For POT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POT1
Clone products for research
- Applied Biological Materials (abm): Clones for POT1 - Starting at $45 >
- * POT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for POT1
- Addgene plasmids for POT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POT1
Cell Lines for research
-
Horizon Cell Lines for POT1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for POT1 Gene
Localization for POT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for POT1 Gene
- Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| lysosome | 0 |
| golgi apparatus | 0 |
- Nucleoplasm (3)
| 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 | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for POT1 Gene
| 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
|
|
Pathways by source for POT1 Gene
1 BioSystems pathway for POT1 Gene
9 Reactome pathways for POT1 Gene
2 Qiagen pathways for POT1 Gene
- Telomerase Components in Cell Signaling
- Telomere Extension by Telomerase
Interacting Proteins for POT1 Gene
Selected Interacting proteins:
Q9NUX5-POTE1_HUMAN
ENSP00000350249
for POT1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for POT1
| 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 |
Transcripts for POT1 Gene
mRNA/cDNA for POT1 Gene
- 2 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 31 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000357628 3924 nts (view in UCSC)
- ENST00000393329 3950 nts (view in UCSC)
- ENST00000429326 1188 nts (view in UCSC)
- ENST00000430927 2602 nts (view in UCSC)
- ENST00000436534 542 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for POT1 - Starting at $85 >
- * POT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for POT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for POT1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POT1
- Browse OriGene Inhibitory RNA Products For POT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POT1
Clone products for research
- Applied Biological Materials (abm): Clones for POT1 - Starting at $45 >
- * POT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for POT1
- Addgene plasmids for POT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POT1
| 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: |
Relevant External Links for POT1 Gene
- GeneLoc Exon Structure for
- POT1
Expression for POT1 Gene
This gene is overexpressed in Monocytes (26.9), Tlymphocyte (20.6), and Blymphocyte (12.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POT1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POT1
SOURCE GeneReport for Unigene cluster for POT1 Gene:
Hs.31968mRNA Expression by UniProt/SwissProt for POT1 Gene:
Q9NUX5-POTE1_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for POT1 Gene
- Intestine(4.3)
- Skin(4.3)
- Nervous system(3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for POT1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- integumentary
- lymphatic
- nervous
Regions:
Head and neck:
- brain
- eye
- head
General:
- blood
- bone marrow
- skin
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for POT1
-
OriGene qPCR primer pairs and template standards for POT1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for POT1 Gene
Orthologs for POT1 Gene
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 |
- Species where no ortholog for POT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for POT1 Gene
- ENSEMBL:
- Gene Tree for POT1 (if available)
- TreeFam:
- Gene Tree for POT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for POT1: view image
Paralogs for POT1 Gene
No data available for Paralogs for POT1 Gene
Variants for POT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POT1 Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 834280 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,871,044(-) |
G/T NM_015450.3(POT1):c.125-3C>A |
INTRON | |
| 836410 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,842,882(-) |
C/T NM_015450.3(POT1):c.1088G>A (p.Arg363Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 837307 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,835,384(-) |
G/T NM_015450.3(POT1):c.1400C>A (p.Ser467Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
| 837466 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,863,552(-) |
A/G NM_015450.3(POT1):c.344T>C (p.Ile115Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR | |
| 838253 | Uncertain Significance: Melanoma, cutaneous malignant, susceptibility to, 10 | 124,827,208(-) |
A/C NM_015450.3(POT1):c.1686+6T>G |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.95;
36.13% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for POT1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POT1 Gene
Disorders for POT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| melanoma, cutaneous malignant 10 |
|
|
| glioma susceptibility 9 |
|
|
| melanoma, cutaneous malignant 1 |
|
|
| leukemia, chronic lymphocytic |
|
|
| inherited cancer-predisposing syndrome |
|
|
Search POT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
POTE1_HUMAN- Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:24686846, ECO:0000269 PubMed:24686849}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- Glioma 9 (GLM9) [MIM:616568]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:25482530}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Additional Disease Information for POT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for POT1 Gene
Publications for POT1 Gene
- Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing. (PMID: 12391173) Baumann P … Cech TR (Molecular and cellular biology 2002) 2 3 4 23
- POT1 loss-of-function variants predispose to familial melanoma. (PMID: 24686849) Robles-Espinoza CD … Adams DJ (Nature genetics 2014) 3 4 74
- Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. (PMID: 24686846) Shi J … Landi MT (Nature genetics 2014) 3 4 74
- Polymorphisms in telomere maintenance genes and risk of lung cancer. (PMID: 19773453) Choi JE … Park JY (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 23 41
- Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. (PMID: 19766477) Varadi V … Försti A (European journal of cancer (Oxford, England : 1990) 2009) 3 23 41
ExternalLinks
Products for POT1 Gene
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Sources for POT1 Gene
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