C1orf38

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]

THEMIS2
Identifiers
AliasesTHEMIS2, C1orf38, ICB-1, thymocyte selection associated family member 2, ICB1, Chromosome 1 open reading frame 38
External IDsOMIM: 617856 MGI: 2446213 HomoloGene: 21009 GeneCards: THEMIS2
Orthologs
SpeciesHumanMouse
Entrez

9473

230787

Ensembl

ENSG00000130775

ENSMUSG00000037731

UniProt

Q5TEJ8

Q91YX0

RefSeq (mRNA)

NM_001039477
NM_001105556
NM_001286113
NM_001286115
NM_004848

NM_001033308

RefSeq (protein)

NP_001034566
NP_001099026
NP_001273042
NP_001273044
NP_004839

NP_001028480

Location (UCSC)Chr 1: 27.87 – 27.89 MbChr 4: 132.51 – 132.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Model organisms

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
  1. GRCh38: Ensembl release 89: ENSG00000130775 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000037731 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Chromosome 1 open reading frame 38". Retrieved 2011-12-07.
  6. 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.
  7. "Salmonella infection data for BC013712". Wellcome Trust Sanger Institute.
  8. "Citrobacter infection data for BC013712". Wellcome Trust Sanger Institute.
  9. 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.
  10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. "International Knockout Mouse Consortium". Archived from the original on 2012-05-29. Retrieved 2012-02-16.
  12. "Mouse Genome Informatics".
  13. 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.
  14. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. 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.
  16. 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


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