Homo sapiens Gene: SPTBN1
Summary
InnateDB Gene IDBG-51911.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTBN1
Gene Name spectrin, beta, non-erythrocytic 1
Synonyms betaSpII; ELF; HEL102; SPTB2
Species Homo sapiens
Ensembl Gene ENSG00000115306
Encoded Proteins
spectrin, beta, non-erythrocytic 1
spectrin, beta, non-erythrocytic 1
spectrin, beta, non-erythrocytic 1
spectrin, beta, non-erythrocytic 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:54456285-54671445
Strand Forward strand
Band p16.2
Transcripts
ENST00000356805 ENSP00000349259
ENST00000389980 ENSP00000374630
ENST00000333896 ENSP00000334156
ENST00000496323
ENST00000467371
ENST00000602898
ENST00000615901 ENSP00000479037
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 100 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 100 [view]
Protein-Protein 100 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005543 phospholipid binding
GO:0030506 ankyrin binding
GO:0032403 protein complex binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000281 mitotic cytokinesis
GO:0007009 plasma membrane organization
GO:0007411 axon guidance
GO:0043001 Golgi to plasma membrane protein transport
GO:0051693 actin filament capping
GO:0071709 membrane assembly
GO:0072661 protein targeting to plasma membrane
Cellular Component
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0008091 spectrin
GO:0014731 spectrin-associated cytoskeleton
GO:0030673 axolemma
GO:0031430 M band
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
Nephrin interactions pathway
Interaction between L1 and Ankyrins pathway
L1CAM interactions pathway
NCAM signaling for neurite out-growth pathway
Developmental Biology pathway
Cell-Cell communication pathway
Axon guidance pathway
KEGG
INOH
PID NCI
TGF-beta receptor signaling
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.503178 Hs.598753 Hs.601295 Hs.625136
RefSeq NM_003128 NM_178313 XM_005264517 XM_005264518 XM_006712087
HUGO
OMIM
CCDS CCDS33198 CCDS33199
HPRD 01683
IMGT
EMBL
GenPept
RNA Seq Atlas