CCDC57

Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene.[5]

CCDC57
Identifiers
Aliases	CCDC57, coiled-coil domain containing 57
External IDs	MGI: 1918526 HomoloGene: 52351 GeneCards: CCDC57
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 82,101,460 bp[1] End 82,212,830 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 120,826,529 bp[2] End 120,932,872 bp[2]
Orthologs
Species	Human	Mouse
Entrez	284001	71276
Ensembl	ENSG00000176155	ENSMUSG00000048445
UniProt	Q2TAC2	Q6PHN1
RefSeq (mRNA)	NM_152675 NM_198082 NM_001316321 NM_001367828	NM_027745
RefSeq (protein)	NP_001303250 NP_932348 NP_001354757	NP_082021
Location (UCSC)	Chr 17: 82.1 – 82.21 Mb	Chr 11: 120.83 – 120.93 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Ccdc57 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
General Observations	Abnormal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Abnormal
Eye Histopathology	Normal
Salmonella infection	Normal[6]
Citrobacter infection	Normal[7]
All tests and analysis from[8][9]

Model organisms have been used in the study of CCDC57 function. A conditional knockout mouse line, called Ccdc57^{tm1a(EUCOMM)Wtsi}[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.[8] The animals displayed hydrocephaly and had abnormal hypodermis fat layer morphology.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000176155 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000048445 - 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. "Entrez Gene: coiled-coil domain containing 57". Retrieved 2011-08-30.
6. "Salmonella infection data for Ccdc57". Wellcome Trust Sanger Institute.
7. "Citrobacter infection data for Ccdc57". Wellcome Trust Sanger Institute.
8. 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.
9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
10. "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-02-07.
11. "Mouse Genome Informatics".
12. 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.
13. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
14. 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.
15. 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.

External links

• Human CCDC57 genome location and CCDC57 gene details page in the UCSC Genome Browser.

Further reading

• Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
• Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Ozyildirim AM, Wistow GJ, Gao J, et al. (2005). "The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts". Invest. Ophthalmol. Vis. Sci. 46 (5): 1572–80. CiteSeerX 10.1.1.123.3574. doi:10.1167/iovs.04-1380. PMID 15851553.
• 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.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
• 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.
• Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.