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Pot1b Gene Detail
Summary
  • Symbol
    Pot1b
  • Name
    protection of telomeres 1B
  • Synonyms
    2810458H16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920086
    NCBI Gene: 72836
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:55958951-56019628 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 28.93 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    593 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920086
 protein coding gene Chr17:55958190-56019647 (-)
129S1/SvImJ ENSMUSG00200016113
 protein coding gene Chr17:51228009-51289054 (-)
A/J ENSMUSG00195006784
 protein coding gene Chr17:52627169-52681955 (-)
AKR/J ENSMUSG00220012434
 protein coding gene Chr17:51676595-51731384 (-)
BALB/cJ ENSMUSG00180006073
 protein coding gene Chr17:52384796-52439589 (-)
C3H/HeJ ENSMUSG00175007172
 protein coding gene Chr17:51700914-51755699 (-)
C57BL/6NJ ENSMUSG00215006975
 protein coding gene Chr17:51309101-51369774 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021749
 protein coding gene Chr17:52043055-52093743 (-)
CAST/EiJ ENSTCUG00005017949
 protein coding gene Chr17:52439932-52496011 (-)
CBA/J ENSMUSG00210027017
 protein coding gene Chr17:51467949-51522733 (-)
DBA/2J ENSMUSG00185008926
 protein coding gene Chr17:54337813-54392598 (-)
FVB/NJ ENSMUSG00205006403
 protein coding gene Chr17:52010617-52071663 (-)
JF1/MsJ ENSUMUG00000019233
 protein coding gene Chr17:54006616-54062624 (-)
LP/J ENSMUSG00230026340
 protein coding gene Chr17:55305451-55366495 (-)
NOD/ShiLtJ ENSMUSG00190009879
 protein coding gene Chr17:51458832-51519877 (-)
NZO/HlLtJ ENSMUSG00225041693
 protein coding gene Chr17:57595117-57655791 (-)
PWK/PhJ ENSLUMG00010008821
 protein coding gene Chr17:51272554-51333101 (-)
SPRET/EiJ ENSMSPG00010005574
 protein coding gene Chr17:51567773-51628217 (-)
WSB/EiJ ENSIUOG00005023487
 protein coding gene Chr17:52371906-52426675 (-)



Homology
more
  • Human Ortholog
    POT1, protection of telomeres 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POT1, protection of telomeres 1
  • Synonyms
    CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3
  • Links
    NCBI Gene ID: 25913
    UniProt: Q9NUX5

  • Chr Location
    7q31.33; chr7:124822386-124929959 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human POT1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 3 genetic backgrounds
    26 phenotypes from multigenic genotypes
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for one null mutation display male infertility with age, male germ cell apoptosis, hyperpigmentation, increased apoptosis in intestinal crypts, and decreased body size. Mice homozygous for a transgenic gene disruption exhibit neonatal lethality with possible stem cell defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    58
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    657
  • Tissues
    38
  • cDNA Data
    6
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024174 Ensembl Gene Model | MGI Sequence Detail 60678 C57BL/6J ±  kb
    transcript ENSMUST00000086876 Ensembl | MGI Sequence Detail 3523 Not Applicable  
    polypeptide ENSMUSP00000084089 Ensembl | MGI Sequence Detail 640 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR012340 Nucleic acid-binding, OB-fold
      IPR028389 Protection of telomeres protein 1
      IPR048953 Protection of telomeres protein 1, C-terminal insertion domain
      IPR032042 Protection of telomeres protein 1, ssDNA-binding domain
      IPR011564 Telomeric single stranded DNA binding POT1/Cdc13
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 6
      Primer pair 3

      Microarray probesets 2
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 9
      Phenotypes 18
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:340807 Takasugi T, et al., Pot1b -/- tumors activate G-quadruplex-induced DNA damage to promote telomere hyper-elongation. Nucleic Acids Res. 2023 Sep 22;51(17):9227-9247
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory