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Protein-coding gene in the species Homo sapiens

SPTBN1

SPTBN1
All data from the card 18
Aliases
SPTBN1, ELF, HEL102, SPTB2, betaSpII, spectrin beta, non-erythrocytic 1, DDISBA
External IDs
OMIM: 182790; MGI: 98388; GeneCards: SPTBN1
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 2 (human)
Band
2p16.2
End
54,671,446 bp
Chr.
Chromosome 11 (mouse)
Band
11 A3.3|11 17.44 cM
End
30,218,175 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
6711
Ensembl
ENSG00000115306
UniProt
Q01082
RefSeq (mRNA)
NM_003128NM_178313
RefSeq (protein)
NP_003119NP_842565
Location (UCSC)
Chr 2: 54.46 – 54.67 Mb

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

Function

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.

Interactions

SPTBN1 has been shown to interact with Merlin.

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Text from Wikipedia, CC BY-SA 4.0 · Source article