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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
Location & Maps
more
  • Sequence Map
    Chr17:55652025-55712628 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      60604 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 28.93 cM, cytoband D
  • Mapping Data
    2 experiments
Human Diseases
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  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 2 alleles in 3 genetic backgrounds
    26 phenotypes from multigenic genotypes
    12 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.
  • All Mutations and Alleles
    13
  • Gene trapped
    6
  • Targeted
    6
  • Transgenic
    1
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024174 Ensembl Gene Model | MGI Sequence Detail 60604 C57BL/6J ±  kb
transcript ENSMUST00000086876 Ensembl | MGI Sequence Detail 3499 Not Applicable  
polypeptide ENSMUSP00000084089 Ensembl | MGI Sequence Detail 640 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    593 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • InterPro Domains
    IPR012340 Nucleic acid-binding, OB-fold
    IPR028389 Protection of telomeres protein 1
    IPR032042 Protection of telomeres protein 1, ssDNA-binding domain
    IPR011564 Telomeric single stranded DNA binding POT1/Cdc13
Molecular
Reagents
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  • All nucleic 7
    cDNA 5
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 33
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 4
    Phenotypes 12
  • 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:213522 Frescas D, et al., TRF2-tethered TIN2 can mediate telomere protection by TPP1/POT1. Mol Cell Biol. 2014 Apr;34(7):1349-62

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory