DBN1

Drebrin is a protein that in humans is encoded by the DBN1 gene.[5][6]

DBN1
Identifiers
AliasesDBN1, D0S117E, drebrin 1
External IDsOMIM: 126660 MGI: 1931838 HomoloGene: 3236 GeneCards: DBN1
Orthologs
SpeciesHumanMouse
Entrez

1627

56320

Ensembl

ENSG00000113758

ENSMUSG00000034675

UniProt

Q16643

Q9QXS6

RefSeq (mRNA)

NM_001177371
NM_001177372
NM_019813

RefSeq (protein)

NP_004386
NP_543157
NP_001350470
NP_001351080
NP_001351081

NP_001170842
NP_001170843
NP_062787

Location (UCSC)Chr 5: 177.46 – 177.47 MbChr 13: 55.62 – 55.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene.[6]

Model organisms

Model organisms have been used in the study of DBN1 function. A conditional knockout mouse line called Dbn1tm1b(KOMP)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]

References

  1. GRCh38: Ensembl release 89: ENSG00000113758 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000034675 - 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. Toda M, Shirao T, Minoshima S, Shimizu N, Toya S, Uyemura K (Nov 1993). "Molecular cloning of cDNA encoding human drebrin E and chromosomal mapping of its gene". Biochem Biophys Res Commun. 196 (1): 468–72. doi:10.1006/bbrc.1993.2273. PMID 8216329.
  6. "Entrez Gene: DBN1 drebrin 1".
  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. S2CID 85911512.
  8. "International Mouse Phenotyping Consortium".
  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.
  10. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  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. S2CID 18872015.
  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, Sanger Institute Mouse Genetics Project, 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 (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.
  13. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

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