Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the C1orf38gene.[5] The gene is also known as ICB-1 and THEMIS2 in humans, and the orthologue in mice is BC013712.[5] C1orf38 has been associated with cancer susceptibility.[6]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty six tests were carried out on mutant mice and one significant abnormality was observed: chromosomal instability was detect by a micronucleus test.[9]
References
^ abcGRCh38: Ensembl release 89: ENSG00000130775 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000037731 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ab"Chromosome 1 open reading frame 38". Retrieved 2011-12-07.
^Springwald, A.; Lattrich, C.; Seitz, S.; Ortmann, O.; Treeck, O. (2009). "Single Nucleotide Polymorphisms in Human Gene icb-1 and Breast Cancer Susceptibility". Cancer Investigation. 27 (6): 669–672. doi:10.1080/07357900802620877. PMID 19308812. S2CID 205570175.
^"Salmonella infection data for BC013712". Wellcome Trust Sanger Institute.
^"Citrobacter infection data for BC013712". Wellcome Trust Sanger Institute.
^ abcGerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^Mouse Resources Portal, Wellcome Trust Sanger Institute.
^. Archived from the original on 2012-05-29. Retrieved 2012-02-16.
^Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC3572410. PMID 21677750.
^Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC3218837. PMID 21722353.
Further reading
Treeck, O.; Springwald, A.; Konwisorz, A.; Lattrich, C.; Goerse, R.; Ortmann, O.; Treeck, O. (2011). "Silencing of the icb-1 gene inhibits the induction of differentiation-associated genes by vitamin D3 and all-trans retinoic acid in gynecological cancer cells". International Journal of Molecular Medicine. 28 (1): 121–127. doi:10.3892/ijmm.2011.663. PMID 21455565.
Springwald, A.; Lattrich, C.; Skrzypczak, M.; Goerse, R.; Ortmann, O.; Treeck, O. (2010). "Icb-1Gene Expression is Elevated in Human Endometrial Adenocarcinoma and is Closely Associated with HER2 Expression". Cancer Investigation. 28 (9): 904–909. doi:10.3109/07357907.2010.483511. PMID 20569072. S2CID 35017943.
Konwisorz, A.; Springwald, A.; Haselberger, M.; Goerse, R.; Ortmann, O.; Treeck, O. (2009). "Knockdown of ICB-1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells". Endocrine-Related Cancer. 17 (1): 147–157. doi:10.1677/ERC-09-0095. PMID 19942713.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
c1orf38, chromosome, open, reading, frame, protein, that, humans, encoded, gene, gene, also, known, themis2, humans, orthologue, mice, bc013712, been, associated, with, cancer, susceptibility, themis2identifiersaliasesthemis2, thymocyte, selection, associated,. Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the C1orf38 gene 5 The gene is also known as ICB 1 and THEMIS2 in humans and the orthologue in mice is BC013712 5 C1orf38 has been associated with cancer susceptibility 6 THEMIS2IdentifiersAliasesTHEMIS2 C1orf38 ICB 1 thymocyte selection associated family member 2 ICB1 Chromosome 1 open reading frame 38External IDsOMIM 617856 MGI 2446213 HomoloGene 21009 GeneCards THEMIS2Gene location Human Chr Chromosome 1 human 1 Band1p35 3Start27 872 543 bp 1 End27 886 685 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 4 D2 3Start132 509 154 bp 2 End132 523 698 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inmonocytebloodspleenbone marrow cellsright lungupper lobe of left lungappendixgallbladderlymph nodecancellous boneTop expressed inlymph nodespleenbloodsubcutaneous adipose tissuesubmandibular glandinternal carotid arteryexternal carotid arterywhite adipose tissueright lungcarotid bodyMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein bindingCellular componentnucleus cytoplasmBiological processinflammatory response immune system process cell adhesion T cell receptor signaling pathwaySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez9473230787EnsemblENSG00000130775ENSMUSG00000037731UniProtQ5TEJ8Q91YX0RefSeq mRNA NM 001039477NM 001105556NM 001286113NM 001286115NM 004848NM 001033308RefSeq protein NP 001034566NP 001099026NP 001273042NP 001273044NP 004839NP 001028480Location UCSC Chr 1 27 87 27 89 MbChr 4 132 51 132 52 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseModel organisms EditBC013712 knockout mouse phenotype Characteristic PhenotypeHomozygote viability NormalFertility NormalBody weight NormalAnxiety NormalNeurological assessment NormalGrip strength NormalHot plate NormalDysmorphology NormalIndirect calorimetry NormalGlucose tolerance test NormalAuditory brainstem response NormalDEXA NormalRadiography NormalBody temperature NormalEye morphology NormalClinical chemistry NormalHaematology NormalPeripheral blood lymphocytes NormalMicronucleus test AbnormalHeart weight NormalTail epidermis wholemount NormalSkin histopathology NormalBrain histopathology NormalEye histopathology NormalSalmonella infection Normal 7 Citrobacter infection Normal 8 All tests and analysis from 9 10 Model organisms have been used in the study of C1orf38 function A conditional knockout mouse line called BC013712tm1a KOMP Wtsi 11 12 was generated as part of the International Knockout Mouse Consortium program a high throughput mutagenesis project to generate and distribute animal models of disease to interested scientists 13 14 15 Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion 9 16 Twenty six tests were carried out on mutant mice and one significant abnormality was observed chromosomal instability was detect by a micronucleus test 9 References Edit a b c GRCh38 Ensembl release 89 ENSG00000130775 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000037731 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Chromosome 1 open reading frame 38 Retrieved 2011 12 07 Springwald A Lattrich C Seitz S Ortmann O Treeck O 2009 Single Nucleotide Polymorphisms in Human Gene icb 1 and Breast Cancer Susceptibility Cancer Investigation 27 6 669 672 doi 10 1080 07357900802620877 PMID 19308812 S2CID 205570175 Salmonella infection data for BC013712 Wellcome Trust Sanger Institute Citrobacter infection data for BC013712 Wellcome Trust Sanger Institute a b c Gerdin AK 2010 The Sanger Mouse Genetics Programme High throughput characterisation of knockout mice Acta Ophthalmologica 88 925 7 doi 10 1111 j 1755 3768 2010 4142 x S2CID 85911512 Mouse Resources Portal Wellcome Trust Sanger Institute International Knockout Mouse Consortium Archived from the original on 2012 05 29 Retrieved 2012 02 16 Mouse Genome Informatics Skarnes W C Rosen B West A P Koutsourakis M Bushell W Iyer V Mujica A O Thomas M Harrow J Cox T Jackson D Severin J Biggs P Fu J Nefedov M De Jong P J Stewart A F Bradley A 2011 A conditional knockout resource for the genome wide study of mouse gene function Nature 474 7351 337 342 doi 10 1038 nature10163 PMC 3572410 PMID 21677750 Dolgin E 2011 Mouse library set to be knockout Nature 474 7351 262 3 doi 10 1038 474262a PMID 21677718 Collins FS Rossant J Wurst W 2007 A Mouse for All Reasons Cell 128 1 9 13 doi 10 1016 j cell 2006 12 018 PMID 17218247 S2CID 18872015 van der Weyden L White JK Adams DJ Logan DW 2011 The mouse genetics toolkit revealing function and mechanism Genome Biol 12 6 224 doi 10 1186 gb 2011 12 6 224 PMC 3218837 PMID 21722353 Further reading EditTreeck O Springwald A Konwisorz A Lattrich C Goerse R Ortmann O Treeck O 2011 Silencing of the icb 1 gene inhibits the induction of differentiation associated genes by vitamin D3 and all trans retinoic acid in gynecological cancer cells International Journal of Molecular Medicine 28 1 121 127 doi 10 3892 ijmm 2011 663 PMID 21455565 Springwald A Lattrich C Skrzypczak M Goerse R Ortmann O Treeck O 2010 Icb 1Gene Expression is Elevated in Human Endometrial Adenocarcinoma and is Closely Associated with HER2 Expression Cancer Investigation 28 9 904 909 doi 10 3109 07357907 2010 483511 PMID 20569072 S2CID 35017943 Konwisorz A Springwald A Haselberger M Goerse R Ortmann O Treeck O 2009 Knockdown of ICB 1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells Endocrine Related Cancer 17 1 147 157 doi 10 1677 ERC 09 0095 PMID 19942713 This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title C1orf38 amp oldid 1139303452, wikipedia, wiki, book, books, library,
