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{{Infobox_gene}}
{{PBB_Controls
'''Sister chromatid cohesion protein DCC1''' is a [[protein]] that in humans is encoded by the ''DSCC1'' [[gene]].<ref name="pmid12766176">{{cite journal | vauthors = Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J | title = Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment | journal = The Journal of Biological Chemistry | volume = 278 | issue = 32 | pages = 30051–6 | date = Aug 2003 | pmid = 12766176 | pmc =  | doi = 10.1074/jbc.M211591200 }}</ref><ref name="entrez">{{Cite web| title = Entrez Gene: DCC1 defective in sister chromatid cohesion homolog 1 (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79075| accessdate = }}</ref>
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| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Model organisms ==
{{GNF_Protein_box
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
| image =
|+ ''Dscc1'' knockout mouse phenotype
| image_source =
|-
| PDB =  
! Characteristic!! Phenotype
| Name = Defective in sister chromatid cohesion homolog 1 (S. cerevisiae)
| HGNCid = 
| Symbol = DCC1
| AltSymbols =; MGC5528
| OMIM = 
| ECnumber = 
| Homologene = 5464
| MGIid = 1919357
| GeneAtlas_image1 = PBB_GE_DCC1_219000_s_at_tn.png
| Function =
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 79075
    | Hs_Ensembl = ENSG00000136982
    | Hs_RefseqProtein = NP_076999
    | Hs_RefseqmRNA = NM_024094
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 120915398
    | Hs_GenLoc_end = 120937330
    | Hs_Uniprot =  Q969N5
    | Mm_EntrezGene = 72107
    | Mm_Ensembl = ENSMUSG00000022422
    | Mm_RefseqmRNA = NM_183089
    | Mm_RefseqProtein = NP_898912
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 15
    | Mm_GenLoc_start = 54906185
    | Mm_GenLoc_end = 54920574
    | Mm_Uniprot = 
  }}
}}
'''Defective in sister chromatid cohesion homolog 1 (S. cerevisiae)''', also known as '''DCC1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DCC1 defective in sister chromatid cohesion homolog 1 (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79075| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
|-
{{PBB_Summary
| [[Homozygote]] viability || bgcolor="#C40000"|Abnormal
| section_title =  
|-
| summary_text =  
| [[Recessive]] lethal study || bgcolor="#C40000"|Abnormal
}}
|-
| Fertility || bgcolor="#488ED3"|Normal
|-
| Body weight || bgcolor="#488ED3"|Normal
|-
| [[Open_Field_(animal_test)|Anxiety]] || bgcolor="#488ED3"|Normal
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
|-
| Grip strength || bgcolor="#488ED3"|Normal
|-
| [[Hot_plate_test|Hot plate]] || bgcolor="#488ED3"|Normal
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy_X-ray_absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#C40000"|Abnormal<ref name="Radiography">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBTX/x-ray-imaging/ |title=Radiography data for Dscc1 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| Eye morphology || bgcolor="#488ED3"|Normal
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#488ED3"|Normal
|-
| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal
|-
| [[Micronucleus test]] || bgcolor="#C40000"|Abnormal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| Skin Histopathology || bgcolor="#488ED3"|Normal
|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Salmonella'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBTX/salmonella-challenge/ |title=''Salmonella'' infection data for Dscc1 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| ''[[Citrobacter]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Citrobacter'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBTX/citrobacter-challenge/ |title=''Citrobacter'' infection data for Dscc1 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal | vauthors = White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = Jul 2013 | pmid = 23870131 | pmc = 3717207 | doi = 10.1016/j.cell.2013.06.022 | url = http://linkinghub.elsevier.com/retrieve/pii/S0092-8674(13)00761-7 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
[[Model organism]]s have been used in the study of DSCC1 function. A conditional [[knockout mouse]] line, called ''Dscc1<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Dscc1 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362627 |title=Mouse Genome Informatics}}</ref> was generated at the [[Wellcome Trust Sanger Institute]] 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.<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref>


==References==
Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }} </ref> Twenty four tests were carried out on [[mutant]] mice and four significant abnormalities were observed.<ref name="mgp_reference" /> Few [[homozygous]] mutant embryos were identified during gestation, and some displayed [[oedema]], therefore less than expected survived until [[weaning]]. Those that did survive had increased chromosomal instability in a [[micronucleus test]] and numerous skeletal abnormalities by [[radiography]].<ref name="mgp_reference" />
{{reflist|2}}
== Interactions ==
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Ohta S, Shiomi Y, Sugimoto K, ''et al.'' |title=A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein. |journal=J. Biol. Chem. |volume=277 |issue= 43 |pages= 40362-7 |year= 2002 |pmid= 12171929 |doi= 10.1074/jbc.M206194200 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J |title=Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment. |journal=J. Biol. Chem. |volume=278 |issue= 32 |pages= 30051-6 |year= 2003 |pmid= 12766176 |doi= 10.1074/jbc.M211591200 }}
*{{cite journal  | author=Bermudez VP, Maniwa Y, Tappin I, ''et al.'' |title=The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 18 |pages= 10237-42 |year= 2003 |pmid= 12930902 |doi= 10.1073/pnas.1434308100 }}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
}}
{{refend}}


{{protein-stub}}
DCC1 has been shown to [[Protein-protein interaction|interact]] with [[CHTF18]].<ref name=autogenerated1>{{cite journal | vauthors = Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J | title = Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment | journal = The Journal of Biological Chemistry | volume = 278 | issue = 32 | pages = 30051–6 | date = Aug 2003 | pmid = 12766176 | doi = 10.1074/jbc.M211591200 }}</ref><ref name=pmid12930902>{{cite journal | vauthors = Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J | title = The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 100 | issue = 18 | pages = 10237–42 | date = Sep 2003 | pmid = 12930902 | pmc = 193545 | doi = 10.1073/pnas.1434308100 }}</ref>
{{WikiDoc Sources}}
 
== References ==
{{Reflist}}
 
== Further reading ==
{{Refbegin| 2}}
* {{cite journal | vauthors = Ohta S, Shiomi Y, Sugimoto K, Obuse C, Tsurimoto T | title = A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein | journal = The Journal of Biological Chemistry | volume = 277 | issue = 43 | pages = 40362–7 | date = Oct 2002 | pmid = 12171929 | doi = 10.1074/jbc.M206194200 }}
* {{cite journal | vauthors = Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J | title = The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 100 | issue = 18 | pages = 10237–42 | date = Sep 2003 | pmid = 12930902 | pmc = 193545 | doi = 10.1073/pnas.1434308100 }}
* {{cite journal | vauthors = Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A | title = The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment | journal = Genome Research | volume = 13 | issue = 10 | pages = 2265–70 | date = Oct 2003 | pmid = 12975309 | pmc = 403697 | doi = 10.1101/gr.1293003 }}
* {{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
{{Refend}}
 
[[Category:Genes mutated in mice]]
 
{{Gene-8-stub}}

Latest revision as of 02:15, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Sister chromatid cohesion protein DCC1 is a protein that in humans is encoded by the DSCC1 gene.[1][2]

Model organisms

Model organisms have been used in the study of DSCC1 function. A conditional knockout mouse line, called Dscc1tm1a(KOMP)Wtsi[8][9] was generated at the Wellcome Trust Sanger Institute 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.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty four tests were carried out on mutant mice and four significant abnormalities were observed.[6] Few homozygous mutant embryos were identified during gestation, and some displayed oedema, therefore less than expected survived until weaning. Those that did survive had increased chromosomal instability in a micronucleus test and numerous skeletal abnormalities by radiography.[6]

Interactions

DCC1 has been shown to interact with CHTF18.[14][15]

References

  1. ↑ Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J (Aug 2003). "Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment". The Journal of Biological Chemistry. 278 (32): 30051–6. doi:10.1074/jbc.M211591200. PMID 12766176.
  2. ↑ "Entrez Gene: DCC1 defective in sister chromatid cohesion homolog 1 (S. cerevisiae)".
  3. ↑ "Radiography data for Dscc1". Wellcome Trust Sanger Institute.
  4. ↑ "Salmonella infection data for Dscc1". Wellcome Trust Sanger Institute.
  5. ↑ "Citrobacter infection data for Dscc1". Wellcome Trust Sanger Institute.
  6. ↑ 6.0 6.1 6.2 6.3 White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  7. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ↑ "International Knockout Mouse Consortium".
  9. ↑ "Mouse Genome Informatics".
  10. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  12. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  13. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  14. ↑ Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J (Aug 2003). "Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment". The Journal of Biological Chemistry. 278 (32): 30051–6. doi:10.1074/jbc.M211591200. PMID 12766176.
  15. ↑ Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J (Sep 2003). "The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA". Proceedings of the National Academy of Sciences of the United States of America. 100 (18): 10237–42. doi:10.1073/pnas.1434308100. PMC 193545. PMID 12930902.

Further reading

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