SPTBN1

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Spectrin, beta, non-erythrocytic 1
Protein SPTBN1 PDB 1aa2.png
PDB rendering based on 1aa2.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SPTBN1 ; ELF; HEL102; SPTB2; betaSpII
External IDs OMIM182790 MGI98388 HomoloGene2354 GeneCards: SPTBN1 Gene
RNA expression pattern
PBB GE SPTBN1 215918 s at tn.png
PBB GE SPTBN1 200671 s at tn.png
PBB GE SPTBN1 200672 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6711 20742
Ensembl ENSG00000115306 ENSMUSG00000020315
UniProt Q01082 Q62261
RefSeq (mRNA) NM_003128 NM_009260
RefSeq (protein) NP_003119 NP_033286
Location (UCSC) Chr 2:
54.68 – 54.9 Mb
Chr 11:
30.1 – 30.27 Mb
PubMed search [1] [2]

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

Interactions[edit]

SPTBN1 has been shown to interact with Merlin.[2]

Model organisms[edit]

Model organisms have been used in the study of spectrin function. A conditional knockout mouse line, called Spnb2tm1a(EUCOMM)Wtsi[8][9] 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.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty seven tests were carried out on mutant mice and four significant abnormalities were observed.[6] 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 .[6]

References[edit]

  1. ^ a b "Entrez Gene: SPTBN1 spectrin, beta, non-erythrocytic 1". 
  2. ^ Neill, G W; Crompton M R (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. (England) 358 (Pt 3): 727–35. doi:10.1042/0264-6021:3580727. ISSN 0264-6021. PMC 1222106. PMID 11535133. 
  3. ^ "Clinical chemistry data for Spnb2". Wellcome Trust Sanger Institute. 
  4. ^ "Salmonella infection data for Spnb2". Wellcome Trust Sanger Institute. 
  5. ^ "Citrobacter infection data for Spnb2". Wellcome Trust Sanger Institute. 
  6. ^ 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. 
  7. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ^ "International Knockout Mouse Consortium". 
  9. ^ "Mouse Genome Informatics". 
  10. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  11. ^ Dolgin E (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 (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 Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]