VPS72

VPS72
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5FUG
Identifiers
Aliases	VPS72, CFL1, Swc2, TCFL1, YL-1, YL1, vacuolar protein sorting 72 homolog
External IDs	OMIM: 600607; MGI: 1202305; HomoloGene: 110905; GeneCards: VPS72; OMA:VPS72 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	151,195,321 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	95,030,362 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; ganglionic eminence; ; ventricular zone; ; Achilles tendon; ; gastrocnemius muscle; ; islet of Langerhans; ; muscle of thigh; ; smooth muscle tissue; ; stromal cell of endometrium; ; prefrontal cortex;
	Top expressed in
	ventricular zone; ; muscle of thigh; ; medial ganglionic eminence; ; neural tube; ; zygote; ; lip; ; internal carotid artery; ; external carotid artery; ; neural layer of retina; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; protein binding; histone binding;
Cellular component	nucleus; nucleoplasm; nuclear speck; protein-containing complex;
Biological process	chromatin remodeling; regulation of transcription, DNA-templated; negative regulation of transcription by RNA polymerase II; somatic stem cell population maintenance; transcription, DNA-templated; histone exchange; chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	6944
	21427
	ENSG00000163159
	ENSMUSG00000008958
	Q15906
	Q62481
	NM_005997; NM_001271087; NM_001271088
	NM_009336
	NP_001258016; NP_001258017; NP_005988
	NP_033362
	Wikidata
View/Edit Human	View/Edit Mouse

Vacuolar protein sorting-associated protein 72 homolog is a protein that in humans is encoded by the VPS72 gene.^[5]^[6]

Model organisms

Model organisms have been used in the study of VPS72 function. A conditional knockout mouse line called Vps72^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[7] Male and female animals underwent a standardized phenotypic screen^[8] to determine the effects of deletion.^[9]^[10]^[11]^[12] Additional screens performed: - In-depth immunological phenotyping^[13]

*Vps72* knockout mouse phenotype
Characteristic	Phenotype
All data available at.^[8]^[13]
Peripheral blood leukocytes 6 Weeks	Normal
Insulin	Normal
Haematology 6 Weeks	Normal
Homozygous viability at P14	Abnormal
Recessive lethal study	Abnormal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163159 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000008958 – 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.
^ Horikawa I, Tanaka H, Yuasa Y, Suzuki M, Oshimura M (Mar 1995). "Molecular cloning of a novel human cDNA on chromosome 1q21 and its mouse homolog encoding a nuclear protein with DNA-binding ability". Biochemical and Biophysical Research Communications. 208 (3): 999–1007. doi:10.1006/bbrc.1995.1433. PMID 7702631.
^ "Entrez Gene: VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae)".
^ 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.
^ ^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.
^ 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".

Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Cai Y, Jin J, Florens L, Swanson SK, Kusch T, Li B, Workman JL, Washburn MP, Conaway RC, Conaway JW (Apr 2005). "The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60 histone acetyltransferase and SRCAP complexes". The Journal of Biological Chemistry. 280 (14): 13665–70. doi:10.1074/jbc.M500001200. PMID 15647280.
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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Denoeud F, Kapranov P, Ucla C, Frankish A, Castelo R, Drenkow J, Lagarde J, Alioto T, Manzano C, Chrast J, Dike S, Wyss C, Henrichsen CN, Holroyd N, Dickson MC, Taylor R, Hance Z, Foissac S, Myers RM, Rogers J, Hubbard T, Harrow J, Guigó R, Gingeras TR, Antonarakis SE, Reymond A (Jun 2007). "Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions". Genome Research. 17 (6): 746–59. doi:10.1101/gr.5660607. PMC 1891335. PMID 17567994.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163159 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000008958 – 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.

[pmid7702631-5] Horikawa I, Tanaka H, Yuasa Y, Suzuki M, Oshimura M (Mar 1995). "Molecular cloning of a novel human cDNA on chromosome 1q21 and its mouse homolog encoding a nuclear protein with DNA-binding ability". Biochemical and Biophysical Research Communications. 208 (3): 999–1007. doi:10.1006/bbrc.1995.1433. PMID 7702631.

[entrez-6] "Entrez Gene: VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae)".

[mgp_reference-7] 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.

[IMPCsearch_ref-8] "International Mouse Phenotyping Consortium".

[pmid21677750-9] 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.

[mouse_library-10] Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-11] 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.

[pmid23870131-12] 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.

[iii_ref-13] "Infection and Immunity Immunophenotyping (3i) Consortium".

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Model organisms

References

Further reading