ZC3HC1
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| Zinc finger, C3HC-type containing 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ZC3HC1; 1110054L24Rik; NIPA | ||||||||||||
| External IDs | MGI: 1916023 HomoloGene: 32315 GeneCards: ZC3HC1 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 51530 | 232679 | |||||||||||
| Ensembl | ENSG00000091732 | ENSMUSG00000039130 | |||||||||||
| UniProt | Q86WB0 | Q3TI64 | |||||||||||
| RefSeq (mRNA) | NM_016478 | NM_172735.2 | |||||||||||
| RefSeq (protein) | NP_057562 | NP_766323.1 | |||||||||||
| Location (UCSC) | Chr 7: 129.66 – 129.69 Mb |
Chr 6: 30.32 – 30.34 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Nuclear-interacting partner of ALK is a protein that in humans is encoded by the ZC3HC1 gene.[1][2]
[edit] Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Normal |
| Homozygous Fertility | Abnormal |
| Body weight | Abnormal[3] |
| Anxiety | Abnormal[4] |
| Neurological assessment | Abnormal[5] |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Abnormal[6] |
| Indirect calorimetry | Abnormal[7] |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Abnormal[8] |
| Radiography | Abnormal[9] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Haematology | Abnormal[10] |
| Peripheral blood lymphocytes | Abnormal[11] |
| Heart weight | Normal |
| Salmonella infection | Normal[12] |
| Citrobacter infection | Normal[13] |
| All tests and analysis from[14][15] |
Model organisms have been used in the study of ZC3HC1 function. A conditional knockout mouse line, called Zc3hc1tm1a(KOMP)Wtsi[16][17] 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.[18][19][20]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[14][21] Twenty two tests were carried out on mutant mice and eleven significant abnormalities were observed.[14] Fewer than expected homozygous mutant mice were identified at weaning. Mutants appear to be subfertile, had decreased vertical activity in an open field, decreased lean body mass, decreased rib number and decreased mature B cell number. Males also had a decreased body weight, an abnormal posture and atypical indirect calorimetry data. Females also had an abnormally short snout and atypical haematology parameters .[14]
[edit] References
- ^ Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (Nov 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310934.
- ^ "Entrez Gene: ZC3HC1 zinc finger, C3HC-type containing 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51530.
- ^ "Body weight data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/weight-curves/.
- ^ "Anxiety data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/open-field/.
- ^ "Neurological assessment data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/neurological-assessment/.
- ^ "Dysmorphology data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/dysmorphology/.
- ^ "Indirect calorimetry data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/indirect-calorimetry/.
- ^ "DEXA data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/body-composition-dexa/.
- ^ "Radiography data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/x-ray-imaging/.
- ^ "Haematology data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/haematology-cbc/.
- ^ "Peripheral blood lymphocytes data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/peripheral-blood-lymphocytes/.
- ^ "Salmonella infection data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/salmonella-challenge/.
- ^ "Citrobacter infection data for Zc3hc1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBGD/citrobacter-challenge/.
- ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley. http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2010.4142.x/abstract.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Zc3hc1.
- ^ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362278.
- ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M. et al (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMID 21677750.
- ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474: 262-263. doi:10.1038/474262a. http://www.nature.com/news/2011/110615/full/474262a.html.
- ^ Collins FS, Rossant J, Wurst W (January 2007). A mouse for all reasons. Cell 128(1): 9-13. doi:10.1016/j.cell.2006.12.018 PMID 17218247.
- ^ 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. PMID 21722353. http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21722353.
[edit] Further reading
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16267.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310948.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Ouyang T, Bai RY, Bassermann F, et al. (2003). "Identification and characterization of a nuclear interacting partner of anaplastic lymphoma kinase (NIPA).". J. Biol. Chem. 278 (32): 30028–36. doi:10.1074/jbc.M300883200. PMID 12748172.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528930.
- Bassermann F, von Klitzing C, Münch S, et al. (2005). "NIPA defines an SCF-type mammalian E3 ligase that regulates mitotic entry.". Cell 122 (1): 45–57. doi:10.1016/j.cell.2005.04.034. PMID 16009132.
- Ambrogio C, Voena C, Manazza AD, et al. (2006). "p130Cas mediates the transforming properties of the anaplastic lymphoma kinase.". Blood 106 (12): 3907–16. doi:10.1182/blood-2005-03-1204. PMC 1895100. PMID 16105984. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1895100.
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1347501.
- Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
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