Manteia - Molecule gene

ENSMUSG00000024174

Mus musculus

Features

Gene ID:	ENSMUSG00000024174

Biological name :	Pot1b

Synonyms :	Pot1b

Possible biological names infered from orthology :	POT1 / protection of telomeres 1 / Q9NUX5

Species:	Mus musculus

Chr. number:	17
Strand:	-1
Band:	C
Gene start:	55652025
Gene end:	55712628

Corresponding Affymetrix probe sets:	10451860 (MoGene1.0st) 1430399_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000084089 NCBI entrez gene - 72836 See in Manteia. MGI - MGI:1920086 RefSeq - XM_017317660 RefSeq - NM_028370 RefSeq - XM_011246645 RefSeq - XM_011246646 RefSeq - XM_006524978 RefSeq - XM_006524979 RefSeq - XM_006524980 RefSeq - XM_006524981 RefSeq Peptide - NP_082646 swissprot - H7BX60 Ensembl - ENSMUSG00000024174

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
pot1	ENSDARG00000079915	Danio rerio
POT1	ENSGALG00000008740	Gallus gallus
POT1	ENSG00000128513	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Pot1a / Q91WC1 / protection of telomeres 1A / POT1* / Q9NUX5* / protection of telomeres 1*	ENSMUSG00000029676	72

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)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000723	telomere maintenance	IEA
biological_process	GO:0001558	regulation of cell growth	IDA
biological_process	GO:0007569	cell aging	IGI
biological_process	GO:0016233	telomere capping	IDA
biological_process	GO:0031848	protection from non-homologous end joining at telomere	IDA
biological_process	GO:0032210	regulation of telomere maintenance via telomerase	IBA
biological_process	GO:0043087	regulation of GTPase activity	IMP
biological_process	GO:0043247	telomere maintenance in response to DNA damage	IDA
biological_process	GO:0048239	negative regulation of DNA recombination at telomere	IDA
biological_process	GO:0050764	regulation of phagocytosis	IMP
biological_process	GO:0051276	chromosome organization	IMP
biological_process	GO:0051974	negative regulation of telomerase activity	IBA
cellular_component	GO:0000783	nuclear telomere cap complex	IDA
cellular_component	GO:0000784	nuclear chromosome, telomeric region	IDA
molecular_function	GO:0003677	DNA binding	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0010521	telomerase inhibitor activity	IBA
molecular_function	GO:0017137	Rab GTPase binding	IDA
molecular_function	GO:0042162	telomeric DNA binding	IDA
molecular_function	GO:0043047	single-stranded telomeric DNA binding	IDA
molecular_function	GO:0098505	G-rich strand telomeric DNA binding	IBA

Pathways (from Reactome)

Pathway description

Packaging Of Telomere Ends

DNA Damage/Telomere Stress Induced Senescence

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000175	absent bone marrow cell	"lack of cells that make up the core cavities of bones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0000221	decreased WBC count	"fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0000334	decreased granulocyte number	"fewer than expected number of leukocytes that have abundant granules in the cytoplasm: basophils, neutrophils, or eosinophils" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0000477	abnormal intestine morphology	"malformation of the digestive tube passing from the stomach to the anus" [J:48968]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0000490	abnormal crypts of Lieberkuhn morphology	"malformation or defects in the tubular intestinal glands found in the mucosal membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Cnr1^tm1.1Ltz/Cnr1^tm1.1Ltz Genetic Background: B6.129P2-Cnr1^tm1.1Ltz Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0000579	abnormal nail morphology	"structural or developmental anomaly of any of the thin, horny, translucent plates covering the dorsal surface of the distal end of each terminal phalanx of the digits" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0001147	small testis	"reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]	Show Allelic Composition: Cnr1^tm1.1Ltz/Cnr1^tm1.1Ltz Genetic Background: B6.129P2-Cnr1^tm1.1Ltz Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0001156	abnormal spermatogenesis	"incomplete maturation or aberrant formation of the male gametes" [J:58959]	Show Allelic Composition: Cnr1^tm1.1Ltz/Cnr1^tm1.1Ltz Genetic Background: B6.129P2-Cnr1^tm1.1Ltz Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0001188	hyperpigmentation	"excess of pigment in any or all tissues or a part of a tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50311]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Cnr1^tm1.1Ltz/Cnr1^tm1.1Ltz Genetic Background: B6.129P2-Cnr1^tm1.1Ltz
MP:0001577	anemia	"less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0001606	impaired hematopoiesis	"atypical process of blood cell formation with the result of fewer of these cells being formed" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0001922	reduced male fertility	"reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]	Show Allelic Composition: Cnr1^tm1.1Ltz/Cnr1^tm1.1Ltz Genetic Background: B6.129P2-Cnr1^tm1.1Ltz
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0002123	abnormal hematopoiesis	"abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0002169	no phenotype detected	"normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pot1a^tm1Tdl/Pot1a^tm1Tdl Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0002216	abnormal seminiferous tubule morphology	"malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cnr1^tm1.1Ltz/Cnr1^tm1.1Ltz Genetic Background: B6.129P2-Cnr1^tm1.1Ltz
MP:0002399	abnormal pluripotent precursor cell morphology/development	"anomalous structure or fomation of the cells that give rise to most types of cells necessary for fetal development" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Hsp90aa1^{Tg(Tyr)2396BOve}/Hsp90aa1^{Tg(Tyr)2396BOve} Genetic Background: FVB/N-Hsp90aa1^{Tg(Tyr)2396BOve}
MP:0002429	abnormal blood cell morphology/development	"anomalous structure, differentiation, or number of any of the cells found in the blood" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0002441	abnormal granulocyte morphology/development	"anomalous structure, differentiation, or number of leukocytes that have abundant granules in the cytoplasm: basophils, neutrophils, or eosinophils" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0002447	abnormal erythrocyte morphology	"structural anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0002875	decreased erythrocyte count	"reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0003179	decreased platelet count	"fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, hdene:Howard Dene , Mouse Genome Informatics Curator, J:93052]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0004810	decreased hematopoietic stem cell number	"reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0004901	decreased male germ cell number	"reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0005152	pancytopenia	"reduction in the number of erythrocytes, all types of white blood cells, and platelets in the circulating blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:20450]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0006042	increased apoptosis	"greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc⁺ Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0008280	male germ cell apoptosis	"presence of male germs cells that undergo programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cnr1^tm1.1Ltz/Cnr1^tm1.1Ltz Genetic Background: B6.129P2-Cnr1^tm1.1Ltz
MP:0011085	complete postnatal lethality	"premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Pot1b^tm1.1Schg/Pot1b^tm1.1Schg,Terc^tm1Rdp/Terc^tm1Rdp Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
MP:0011087	complete neonatal lethality	"death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Hsp90aa1^{Tg(Tyr)2396BOve}/Hsp90aa1^{Tg(Tyr)2396BOve} Genetic Background: FVB/N-Hsp90aa1^{Tg(Tyr)2396BOve}

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000060981	P62806 / Hist1h4h / Histone H4	/ reaction / complex

1 s.

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