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Pot1a Gene Detail
Summary
  • Symbol
    Pot1a
  • Name
    protection of telomeres 1A
  • Synonyms
    1500031H18Rik, Pot1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2141503
    NCBI Gene: 101185
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:25743939-25809280 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 11.65 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2332 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2141503
 protein coding gene Chr6:25743736-25809280 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030504
 protein coding gene Chr6:23343834-23413895 (-)
A/J MGP_AJ_G0030477
 protein coding gene Chr6:22359025-22430506 (-)
AKR/J MGP_AKRJ_G0030404
 protein coding gene Chr6:23114356-23188395 (-)
BALB/cJ MGP_BALBcJ_G0030487
 protein coding gene Chr6:22501281-22574239 (-)
C3H/HeJ MGP_C3HHeJ_G0030200
 protein coding gene Chr6:23096082-23176368 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030941
 protein coding gene Chr6:24047365-24121006 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028152
 protein coding gene Chr6:20726857-20794517 (-)
CAST/EiJ MGP_CASTEiJ_G0029602
 protein coding gene Chr6:22887163-22959243 (-)
CBA/J MGP_CBAJ_G0030178
 protein coding gene Chr6:24892867-24969638 (-)
DBA/2J MGP_DBA2J_G0030322
 protein coding gene Chr6:22338531-22403218 (-)
FVB/NJ MGP_FVBNJ_G0030276
 protein coding gene Chr6:22081631-22146221 (-)
LP/J MGP_LPJ_G0030409
 protein coding gene Chr6:23473313-23540191 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030312
 protein coding gene Chr6:26940974-27012423 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030971
 protein coding gene Chr6:23011378-23091292 (-)
PWK/PhJ MGP_PWKPhJ_G0029316
 protein coding gene Chr6:21847689-21909973 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029152
 protein coding gene Chr6:22691847-22775109 (-)
WSB/EiJ MGP_WSBEiJ_G0029678
 protein coding gene Chr6:22966771-23033105 (-)



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
    neXtProt AC: NX_Q9NUX5
    UniProt: Q9NUX5

  • Chr Location
    7q31.33; chr7:124822386-124929983 (-)  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, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 4 alleles in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    15 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.
Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    52
  • GO References
    12
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
    791
  • Tissues
    43
  • cDNA Data
    11
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 101185 NCBI Gene Model | MGI Sequence Detail 65342 C57BL/6J ±  kb
    transcript NM_133931 RefSeq | MGI Sequence Detail 2938 C57BL/6  
    polypeptide Q91WC1 UniProt | EBI | MGI Sequence Detail 640 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000013032 protection of telomeres protein 1
      (term hierarchy)
    • 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 14
      cDNA 11
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1916266
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 4
      Gene Ontology 12
      Phenotypes 15
    • 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:346643 Nakashima K, et al., POT1a deficiency in mesenchymal niches perturbs B-lymphopoiesis. Commun Biol. 2023 Sep 29;6(1):996
    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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    11/19/2024
    MGI 6.24     		The Jackson Laboratory