SPTBN1

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SPTBN1
Protein SPTBN1 PDB 1aa2.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SPTBN1, ELF, HEL102, SPTB2, betaSpII, spectrin beta, non-erythrocytic 1
External IDs MGI: 98388 HomoloGene: 2354 GeneCards: 6711
Genetically Related Diseases
Disease Name References
myopia
RNA expression pattern
PBB GE SPTBN1 200671 s at tn.png

PBB GE SPTBN1 200672 x at tn.png

PBB GE SPTBN1 215918 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003128
NM_178313

NM_009260
NM_175836

RefSeq (protein)

NP_003119.2
NP_842565.2

NP_033286.2
NP_787030.2

Location (UCSC) Chr 2: 54.46 – 54.67 Mb Chr 11: 30.1 – 30.27 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.[4]

Function[edit]

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats that are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene.[4]

Interactions[edit]

SPTBN1 has been shown to interact with Merlin.[5]

Model organisms[edit]

Model organisms have been used in the study of spectrin function. A conditional knockout mouse line, called Spnb2tm1a(EUCOMM)Wtsi[11][12] 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.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty seven tests were carried out on mutant mice and four significant abnormalities were observed.[9] Few homozygous mutant embryos were identified during gestation and those that were present displayed oedema. None survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice. These animals had a decreased length of long bones, while males also displayed hypoalbuminemia .[9]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_11830&geneId=154257". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b "Entrez Gene: SPTBN1 spectrin, beta, non-erythrocytic 1". 
  5. ^ Neill GW, Crompton MR (September 2001). "Binding of the merlin-I product of the neurofibromatosis type 2 tumour suppressor gene to a novel site in beta-fodrin is regulated by association between merlin domains". Biochem. J. 358 (Pt 3): 727–35. doi:10.1042/0264-6021:3580727. PMC 1222106free to read. PMID 11535133. 
  6. ^ "Clinical chemistry data for Spnb2". Wellcome Trust Sanger Institute. 
  7. ^ "Salmonella infection data for Spnb2". Wellcome Trust Sanger Institute. 
  8. ^ "Citrobacter infection data for Spnb2". Wellcome Trust Sanger Institute. 
  9. ^ a b c d 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. 
  10. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. ^ "International Knockout Mouse Consortium". 
  12. ^ "Mouse Genome Informatics". 
  13. ^ 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 (15 June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410free to read. PMID 21677750. 
  14. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  15. ^ 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. 
  16. ^ 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 3218837free to read. PMID 21722353. 

Further reading[edit]