Gene

pot1

ID
ZDB-GENE-110324-1
Name
protection of telomeres 1 homolog
Symbol
pot1 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Predicted to have G-rich strand telomeric DNA binding activity and telomerase inhibitor activity. Predicted to be involved in negative regulation of telomerase activity; regulation of telomere maintenance via telomerase; and telomere capping. Predicted to localize to nuclear telomere cap complex. Is expressed in several structures, including gill; heart; liver; pleuroperitoneal region; and post-vent region. Human ortholog(s) of this gene implicated in familial melanoma and malignant glioma. Orthologous to human POT1 (protection of telomeres 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Ma et al., 2022
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pot1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Tumor predisposition syndrome 3 615848
?Cerebroretinal microangiopathy with calcifications and cysts 3 620368
?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 620367
Associated With pot1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR011564 Telomeric single stranded DNA binding POT1/Cdc13
Domain IPR032042 Protection of telomeres protein 1, ssDNA-binding domain
Domain IPR048953 Protection of telomeres protein 1, C-terminal insertion domain
Family IPR028389 Protection of telomeres protein 1
Homologous_superfamily IPR012340 Nucleic acid-binding, OB-fold
Domain Details Per Protein
Protein Length Nucleic acid-binding, OB-fold Protection of telomeres protein 1 Protection of telomeres protein 1, C-terminal insertion domain Protection of telomeres protein 1, ssDNA-binding domain Telomeric single stranded DNA binding POT1/Cdc13
UniProtKB:A0A8M9PYF2 675
UniProtKB:F1D6H6 773
UniProtKB:A0A8M9PMS4 765
UniProtKB:E7F0D5 773
UniProtKB:A0A8M9PUZ9 647
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations