U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Sptbn1 spectrin beta, non-erythrocytic 1 [ Mus musculus (house mouse) ]

Gene ID: 20742, updated on 31-Jan-2023

Summary

Official Symbol
Sptbn1provided by MGI
Official Full Name
spectrin beta, non-erythrocytic 1provided by MGI
Primary source
MGI:MGI:98388
See related
Ensembl:ENSMUSG00000020315 AllianceGenome:MGI:98388
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
elf1; elf3; SPTB2; Spnb2; Spnb-2; mKIAA4049; 9930031C03Rik
Summary
Predicted to enable GTPase binding activity; actin filament binding activity; and ankyrin binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in protein localization to plasma membrane. Acts upstream of or within common-partner SMAD protein phosphorylation and regulation of SMAD protein signal transduction. Located in several cellular components, including M band; axolemma; and cuticular plate. Is expressed in several structures, including brain; liver; sciatic nerve; spinal cord; and spleen. Used to study Beckwith-Wiedemann syndrome. Orthologous to human SPTBN1 (spectrin beta, non-erythrocytic 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 47.5), frontal lobe adult (RPKM 32.2) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Sptbn1 in Genome Data Viewer
Location:
11 A3.3; 11 17.44 cM
Exon count:
39
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (30049395..30218384, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (30099395..30268384, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene echinoderm microtubule associated protein like 6 Neighboring gene predicted gene, 22588 Neighboring gene predicted gene 12095 Neighboring gene predicted gene, 53676 Neighboring gene predicted gene, 51887 Neighboring gene predicted gene 8098 Neighboring gene predicted gene, 40820 Neighboring gene stress-induced phosphoprotein 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA4049

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase binding ISO
Inferred from Sequence Orthology
more info
 
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ankyrin binding ISO
Inferred from Sequence Orthology
more info
 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in Golgi to plasma membrane protein transport ISO
Inferred from Sequence Orthology
more info
 
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in actin cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within actin filament capping IEA
Inferred from Electronic Annotation
more info
 
involved_in central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in central nervous system development ISO
Inferred from Sequence Orthology
more info
 
involved_in central nervous system formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in central nervous system formation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within common-partner SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in mitotic cytokinesis ISO
Inferred from Sequence Orthology
more info
 
involved_in plasma membrane organization ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of interleukin-2 production ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in M band IDA
Inferred from Direct Assay
more info
PubMed 
located_in axolemma IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cortical cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in cuticular plate IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in postsynapse ISO
Inferred from Sequence Orthology
more info
 
located_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
part_of spectrin IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
spectrin beta chain, non-erythrocytic 1
Names
beta fodrin
beta-II spectrin
beta-spectrin 2, non-erythrocytic
brain spectrin
embryonic liver fodrin
fodrin beta chain
non-erythrocytic
spectrin G
spectrin beta 2
spectrin beta chain, brain 1
spectrin, non-erythroid beta chain 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_009260.2NP_033286.2  spectrin beta chain, non-erythrocytic 1 isoform 2

    See identical proteins and their annotated locations for NP_033286.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains different segments for its 5' UTR, 5' coding region, 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 2) has shorter and distinct N- and C- termini when it is compared to isoform 1.
    Source sequence(s)
    AF017112, AK075675, AK157727, AK161119, AK169544, CF539329, CK627078
    Consensus CDS
    CCDS24506.1
    UniProtKB/Swiss-Prot
    Q62261
    UniProtKB/TrEMBL
    Q3TTX2, Q3TZN6
    Related
    ENSMUSP00000099902.4, ENSMUST00000102838.10
    Conserved Domains (3) summary
    cd00014
    Location:161264
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:517730
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:409512
    Spectrin; Spectrin repeat
  2. NM_175836.2NP_787030.2  spectrin beta chain, non-erythrocytic 1 isoform 1

    See identical proteins and their annotated locations for NP_787030.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AF017112, AK051630, AK157727, AK169544, AL672225, BC024833, CF539329, CK627078
    Consensus CDS
    CCDS36123.1
    UniProtKB/Swiss-Prot
    Q62261, Q9QWJ7
    UniProtKB/TrEMBL
    Q3TZN6, Q8BQ35, Q8R1C2
    Related
    ENSMUSP00000011877.7, ENSMUST00000011877.13
    Conserved Domains (4) summary
    COG5069
    Location:48530
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530743
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:21992304
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:20172075
    Spectrin; Spectrin repeat

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    30049395..30218384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006514599.4XP_006514662.1  spectrin beta chain, non-erythrocytic 1 isoform X1

    See identical proteins and their annotated locations for XP_006514662.1

    UniProtKB/Swiss-Prot
    Q62261, Q9QWJ7
    Related
    ENSMUSP00000006629.8, ENSMUST00000006629.14
    Conserved Domains (4) summary
    COG5069
    Location:48530
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530743
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:21992304
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:20172075
    Spectrin; Spectrin repeat
  2. XM_006514600.5XP_006514663.1  spectrin beta chain, non-erythrocytic 1 isoform X1

    See identical proteins and their annotated locations for XP_006514663.1

    UniProtKB/Swiss-Prot
    Q62261, Q9QWJ7
    Conserved Domains (4) summary
    COG5069
    Location:48530
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530743
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:21992304
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:20172075
    Spectrin; Spectrin repeat
  3. XM_030245736.1XP_030101596.1  spectrin beta chain, non-erythrocytic 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9QWJ7
    Conserved Domains (4) summary
    COG5069
    Location:48530
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530743
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:21992304
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:20172075
    Spectrin; Spectrin repeat
  4. XM_006514601.3XP_006514664.1  spectrin beta chain, non-erythrocytic 1 isoform X2

    Conserved Domains (4) summary
    COG5069
    Location:34517
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:517730
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:21862291
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:20042062
    Spectrin; Spectrin repeat

RNA

  1. XR_004936897.1 RNA Sequence

  2. XR_004936898.1 RNA Sequence