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 enable 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 act upstream of or within telomere maintenance. Predicted to be located in chromosome, telomeric region and nucleus. Predicted to be part of nuclear telomere cap complex. Is expressed in several structures, including blastomere; digestive system; gill; heart; and ovary. Human ortholog(s) of this gene implicated in familial melanoma; gastrointestinal system cancer (multiple); high grade glioma; lung cancer; and ovarian cancer. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 InterPro	675
UniProtKB:F1D6H6 InterPro	773
UniProtKB:A0A8M9PMS4 InterPro	765
UniProtKB:E7F0D5 InterPro	773
UniProtKB:A0A8M9PUZ9 InterPro	647

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pot1-201 (1) Ensembl	Ensembl	2,698 nt	Select Tool ZFIN BLAST
mRNA	pot1-202 (1) Ensembl	Ensembl	2,334 nt	Select Tool ZFIN BLAST
mRNA	pot1-204 (1) Ensembl	Ensembl	2,674 nt	Select Tool ZFIN BLAST
ncRNA	pot1-002 (1) Ensembl	Ensembl	817 nt	Select Tool ZFIN BLAST

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