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SPTBN1

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(Redirected from SPTBN1 (gene))
SPTBN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSPTBN1, ELF, HEL102, SPTB2, betaSpII, spectrin beta, non-erythrocytic 1, DDISBA
External IDsOMIM: 182790; MGI: 98388; HomoloGene: 2354; GeneCards: SPTBN1; OMA:SPTBN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003128
NM_178313

NM_009260
NM_175836

RefSeq (protein)

NP_003119
NP_842565

NP_033286
NP_787030

Location (UCSC)Chr 2: 54.46 – 54.67 MbChr 11: 30.05 – 30.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.[5]

Function

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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.[5]

Interactions

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SPTBN1 has been shown to interact with Merlin.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115306Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020315Ensembl, 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. ^ a b "Entrez Gene: SPTBN1 spectrin, beta, non-erythrocytic 1".
  6. ^ 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 1222106. PMID 11535133.

Further reading

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