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

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: human all
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Genomic context

Location:: 11 A3.3; 11 17.44 cM

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

betaII-Spectrin Is Required for Synaptic Positioning during Retinal Development.
Title: βII-Spectrin Is Required for Synaptic Positioning during Retinal Development.
Loss of SPTBN1 Suppresses Autophagy Via SETD7-mediated YAP Methylation in Hepatocellular Carcinoma Initiation and Development.
Title: Loss of SPTBN1 Suppresses Autophagy Via SETD7-mediated YAP Methylation in Hepatocellular Carcinoma Initiation and Development.
beta spectrin-dependent and domain specific mechanisms for Na(+) channel clustering.
Title: β spectrin-dependent and domain specific mechanisms for Na(+) channel clustering.
betaII-spectrin promotes both axon growth and axon stability through establishing the actin-spectrin-based membrane-associated periodic skeleton as well as enabling axonal transport of synaptic cargo.
Title: βII-spectrin promotes mouse brain connectivity through stabilizing axonal plasma membranes and enabling axonal organelle transport.
Our data show that a spectrin-based submembranous cytoskeleton in myelinating glia plays important roles in paranode formation and maintenance
Title: Glial βII Spectrin Contributes to Paranode Formation and Maintenance.
These findings reveal spectrin (alpha/beta) / ankyrin B cytoskeletal and signaling proteins as key regulators of T-type calcium channels expressed in the nervous system.
Title: T-type calcium channels functionally interact with spectrin (α/β) and ankyrin B.
required for proper development of the heart
Title: Loss of β2-spectrin prevents cardiomyocyte differentiation and heart development.
The findings showed that beta-2 spectrin plays a crucial role in hepatocyte proliferation, which contributes to liver regeneration. PI3K/Akt was involved in TGFbeta/Smad signalling pathway through the interaction with Smad proteins and beta-2 spectrin.
Title: β-2 spectrin is involved in hepatocyte proliferation through the interaction of TGFβ/Smad and PI3K/AKT signalling.
These data reveal that embryonic liver fodrin is involved in hepatic stellate cell activation and the formation of regenerative nodules derived from hepatic progenitor cells in cirrhotic liver.
Title: Embryonic liver fodrin involved in hepatic stellate cell activation and formation of regenerative nodule in liver cirrhosis.
Results of this study provide evidence for a role for spectrin in different steps of megakaryocyte development through its participation in the formation of invaginated membranes and in the maintenance of proplatelet structure.
Title: The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236544

NoName (e-PCR)
- UniSTS:224853

Spnb2 (e-PCR), detects polymorphism
- UniSTS:532326

Spnb2 (e-PCR), detects polymorphism
- UniSTS:144502

28.MMHAP62FRB10.seq (e-PCR)
- UniSTS:123829

RH124187 (e-PCR)
- UniSTS:161009

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
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
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
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
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
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
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
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

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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)

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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)

NM_009260.2 → NP_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/TrEMBL

A0A0A0MQG2

Related

ENSMUSP00000099902.4, ENSMUST00000102838.10

Conserved Domains (3) summary

cd00014
Location:161 → 264

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:517 → 730

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:409 → 512

Spectrin; Spectrin repeat
NM_175836.2 → NP_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

A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7

UniProtKB/TrEMBL

A0A0A0MQG2

Related

ENSMUSP00000011877.7, ENSMUST00000011877.13

Conserved Domains (4) summary

COG5069
Location:48 → 530

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:530 → 743

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:2199 → 2304

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00435
Location:2017 → 2075

Spectrin; Spectrin repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

30049395..30218384 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_006514662.1

UniProtKB/Swiss-Prot

A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7

UniProtKB/TrEMBL

A0A0A0MQG2

Related

ENSMUSP00000006629.8, ENSMUST00000006629.14

Conserved Domains (4) summary

COG5069
Location:48 → 530

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:530 → 743

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:2199 → 2304

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00435
Location:2017 → 2075

Spectrin; Spectrin repeat
XM_006514600.5 → XP_006514663.1 spectrin beta chain, non-erythrocytic 1 isoform X1

See identical proteins and their annotated locations for XP_006514663.1

UniProtKB/Swiss-Prot

A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7

UniProtKB/TrEMBL

A0A0A0MQG2

Conserved Domains (4) summary

COG5069
Location:48 → 530

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:530 → 743

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:2199 → 2304

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00435
Location:2017 → 2075

Spectrin; Spectrin repeat
XM_030245736.1 → XP_030101596.1 spectrin beta chain, non-erythrocytic 1 isoform X1

UniProtKB/Swiss-Prot

A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7

UniProtKB/TrEMBL

A0A0A0MQG2

Conserved Domains (4) summary

COG5069
Location:48 → 530

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:530 → 743

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:2199 → 2304

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00435
Location:2017 → 2075

Spectrin; Spectrin repeat
XM_006514601.3 → XP_006514664.1 spectrin beta chain, non-erythrocytic 1 isoform X2

UniProtKB/TrEMBL

A0A0A0MQG2

Conserved Domains (4) summary

COG5069
Location:34 → 517

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:517 → 730

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:2186 → 2291

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00435
Location:2004 → 2062

Spectrin; Spectrin repeat