Histone deacetylase complex subunit SAP130 is an enzyme that in humans is encoded by the SAP130 gene .[5] [6] [7]
Function [ ] SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003).[supplied by OMIM][7]
Interactions [ ] SAP130 has been shown to interact with:
Model organisms [ ] Model organisms have been used in the study of SAP130 function. A conditional knockout mouse line called Sap130tm1a(KOMP)Mbp was generated at the Wellcome Trust Sanger Institute .[10] phenotypic screen [11] [12] [13] [14] [15] [16]
Sap130 knockout mouse phenotype
Characteristic
Phenotype
All data available at.[11] [16]
Peripheral blood leukocytes 6 Weeks
Abnormal
Insulin
Normal
Haematology Normal
Homozygous viability at P14
Abnormal
Recessive lethal studyAbnormal
Body weight
Normal
Neurological assessment
Normal
Grip strength
Normal
Dysmorphology Normal
Indirect calorimetry Abnormal
Glucose tolerance test Normal
Auditory brainstem response Normal
DEXA Normal
Radiography Normal
Eye morphology
Normal
Clinical chemistry Normal
Haematology Normal
Peripheral blood leukocytes 16 Weeks
Normal
Heart weight
Normal
Salmonella Normal
Cytotoxic T Cell Function
Normal
Spleen Immunophenotyping
Normal
Mesenteric Lymph Node Immunophenotyping
Normal
Bone Marrow Immunophenotyping
Normal
Epidermal Immune Composition
Normal
Influenza Challenge
Normal
References [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000136715 - Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024260 - 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 .^ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs" . Genome Research . 11 (3): 422–35. doi :10.1101/gr.GR1547R . PMC 311072 PMID 11230166 . ^ a b Fleischer TC, Yun UJ, Ayer DE (May 2003). "Identification and characterization of three new components of the mSin3A corepressor complex" . Molecular and Cellular Biology . 23 (10): 3456–67. doi :10.1128/MCB.23.10.3456-3467.2003 . PMC 164750 PMID 12724404 . ^ a b "Entrez Gene: SAP130 Sin3A-associated protein, 130kDa" .^ a b c Menon S, Tsuge T, Dohmae N, Takio K, Wei N (2008). "Association of SAP130/SF3b-3 with Cullin-RING ubiquitin ligase complexes and its regulation by the COP9 signalosome" . BMC Biochemistry . 9 : 1. doi :10.1186/1471-2091-9-1 . PMC 2265268 PMID 18173839 . ^ Liu X, Tesfai J, Evrard YA, Dent SY, Martinez E (May 2003). "c-Myc transformation domain recruits the human STAGA complex and requires TRRAP and GCN5 acetylase activity for transcription activation" . The Journal of Biological Chemistry . 278 (22): 20405–12. doi :10.1074/jbc.M211795200 . PMC 4031917 PMID 12660246 . ^ 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 . ^ a b "International Mouse Phenotyping Consortium" .^ 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 . ^ Dolgin E (Jun 2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ 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 . S2CID 18872015 . ^ 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 . ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium" .
Further reading [ ]
Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination" . Genome Research . 10 (11): 1788–95. doi :10.1101/gr.143000 . PMC 310948 PMID 11076863 . Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing" . EMBO Reports . 1 (3): 287–92. doi :10.1093/embo-reports/kvd058 . PMC 1083732 PMID 11256614 . Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (Jul 2004). "Functional proteomics mapping of a human signaling pathway" . Genome Research . 14 (7): 1324–32. doi :10.1101/gr.2334104 . PMC 442148 PMID 15231748 . Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline" . Genome Research . 14 (10B): 2136–44. doi :10.1101/gr.2576704 . PMC 528930 PMID 15489336 . Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006" . Nucleic Acids Research . 34 (Database issue): D415-8. doi :10.1093/nar/gkj139 . PMC 1347501 PMID 16381901 .
