ENSMUSG00000029676


Mus musculus

Features
Gene ID: ENSMUSG00000029676
  
Biological name :Pot1a
  
Synonyms : Pot1a / protection of telomeres 1A / Q91WC1
  
Possible biological names infered from orthology : POT1 / protection of telomeres 1 / Q9NUX5
  
Species: Mus musculus
  
Chr. number: 6
Strand: -1
Band: A3.1
Gene start: 25743737
Gene end: 25809246
  
Corresponding Affymetrix probe sets: 10543471 (MoGene1.0st)   1432077_at (Mouse Genome 430 2.0 Array)   1440568_at (Mouse Genome 430 2.0 Array)   1448379_at (Mouse Genome 430 2.0 Array)   1456369_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000110982
Ensembl peptide - ENSMUSP00000110986
Ensembl peptide - ENSMUSP00000131928
NCBI entrez gene - 101185     See in Manteia.
MGI - MGI:2141503
RefSeq - XM_006504956
RefSeq - NM_133931
RefSeq - XM_006504955
RefSeq Peptide - NP_598692
swissprot - Q91WC1
swissprot - Q3UXR7
Ensembl - ENSMUSG00000029676
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pot1ENSDARG00000079915Danio rerio
 POT1ENSGALG00000008740Gallus gallus
 POT1ENSG00000128513Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pot1b / POT1* / Q9NUX5* / protection of telomeres 1*ENSMUSG0000002417472


Protein motifs (from Interpro)
Interpro ID Name
 IPR011564  Telomeric single stranded DNA binding POT1/Cdc13
 IPR012340  Nucleic acid-binding, OB-fold
 IPR028389  Protection of telomeres protein 1
 IPR032042  Protection of telomeres protein 1, ssDNA-binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0007004 telomere maintenance via telomerase ISS
 biological_processGO:0016233 telomere capping IBA
 biological_processGO:0032202 telomere assembly ISO
 biological_processGO:0032210 regulation of telomere maintenance via telomerase ISO
 biological_processGO:0032211 negative regulation of telomere maintenance via telomerase ISO
 biological_processGO:0032212 positive regulation of telomere maintenance via telomerase ISO
 biological_processGO:0032508 DNA duplex unwinding ISO
 biological_processGO:0051096 positive regulation of helicase activity ISO
 biological_processGO:0051276 chromosome organization IGI
 biological_processGO:0051973 positive regulation of telomerase activity ISO
 biological_processGO:0051974 negative regulation of telomerase activity ISO
 biological_processGO:0060383 positive regulation of DNA strand elongation ISO
 biological_processGO:0061820 telomeric D-loop disassembly ISO
 biological_processGO:0070200 establishment of protein localization to telomere ISO
 biological_processGO:1905774 regulation of DNA helicase activity ISO
 biological_processGO:1905776 positive regulation of DNA helicase activity ISO
 cellular_componentGO:0000781 chromosome, telomeric region ISO
 cellular_componentGO:0000783 nuclear telomere cap complex ISO
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0070187 shelterin complex ISO
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0010521 telomerase inhibitor activity ISO
 molecular_functionGO:0017151 DEAD/H-box RNA helicase binding ISO
 molecular_functionGO:0042162 telomeric DNA binding IDA
 molecular_functionGO:0043047 single-stranded telomeric DNA binding ISS
 molecular_functionGO:0061821 telomeric D-loop binding ISO
 molecular_functionGO:0098505 G-rich strand telomeric DNA binding ISO
 molecular_functionGO:1905773 8-hydroxy-2"-deoxyguanosine DNA binding ISO
 molecular_functionGO:1990955 G-rich single-stranded DNA binding ISO


Pathways (from Reactome)
Pathway description
Packaging Of Telomere Ends
DNA Damage/Telomere Stress Induced Senescence


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pax3Sp/Pax3+
Genetic Background: involves: C3HeB * C57BL * C57BL/6J * SWV

Allelic Composition: Pot1atm1Schg/Pot1atm1.1Schg
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0003155 abnormal telomere length "abnormal length of the terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability; normal length is a few hundred base pairs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pot1atm1Schg/Pot1atm1.1Schg
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0003701 elevated level of sister chromatid exchange "increased number of crossovers between sister chromatids during meiosis resulting in increased numbers of reciprocal exchanges of DNA between the two chromosomes" [hdene:Howard Dene , Mouse Genome Informatics Curator, J:97667]
Show

Allelic Composition: Pot1atm1Schg/Pot1atm1.1Schg,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

 MP:0003702 abnormal chromosome morphology "anomalies in the structure of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information " [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pot1atm1Schg/Pot1atm1.1Schg
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pot1atm1Schg/Pot1atm1.1Schg,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

 MP:0004028 chromosome breakage "chromosome instability in the from of increased frequency of spontaneous breakage with or without rearrangements" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pot1atm1Schg/Pot1atm1.1Schg,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

 MP:0004964 absent inner cell mass "absence of the cells of the blastocyst that develop into the body of the embryo" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rag2tm1Tgi/Rag2tm1Tgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pot1atm1Schg/Pot1atm1.1Schg
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Rag2tm1Tgi/Rag2tm1Tgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Pot1atm1Tdl/Pot1atm1Tdl
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
Show

Allelic Composition: Rag2tm1Tgi/Rag2tm1Tgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / complex / reaction






 

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