Sptan1 spectrin alpha, non-erythrocytic 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sptan1provided by MGI
Official Full Name: spectrin alpha, non-erythrocytic 1provided by MGI
Primary source: MGI:MGI:98386
See related: Ensembl:ENSMUSG00000057738 AllianceGenome:MGI:98386
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: Spna2; Spna-2; 2610027H02Rik
Summary: Enables spectrin binding activity. Predicted to be involved in actin cytoskeleton organization. Located in several cellular components, including cuticular plate; fascia adherens; and lateral plasma membrane. Is active in paranodal junction. Is expressed in gut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E18 (RPKM 112.4), cerebellum adult (RPKM 102.7) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 20.93 cM

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (29855572..29921463)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (29965560..30031451)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Age-dependent ataxia and neurodegeneration caused by an alphaII spectrin mutation with impaired regulation of its calpain sensitivity.
Title: Age-dependent ataxia and neurodegeneration caused by an αII spectrin mutation with impaired regulation of its calpain sensitivity.
A Na,K-ATPase-Fodrin-Actin Membrane Cytoskeleton Complex is Required for Endothelial Fenestra Biogenesis.
Title: A Na,K-ATPase-Fodrin-Actin Membrane Cytoskeleton Complex is Required for Endothelial Fenestra Biogenesis.
neurogenic markers, including doublecortin and the neuronal nuclei antigen, and hippocalcin, otub1, and spectrin-alpha are potential molecular links between hippocampal neurogenesis and exercise in the elderly.
Title: Moderate-Intensity Exercise Induces Neurogenesis and Improves Cognition in Old Mice by Upregulating Hippocampal Hippocalcin, Otub1, and Spectrin-α.
alphaII spectrin has a role in critical aspects of dendritic and axonal development and synaptogenesis, and there is a dominant-negative mechanism of SPTAN1 mutations in epileptic encephalopathy
Title: Critical roles of αII spectrin in brain development and epileptic encephalopathy.
Fodrin is a regulatory transporter of gamma-tubulin to the centrosomes for normal progression of mitosis.
Title: Fodrin in centrosomes: implication of a role of fodrin in the transport of gamma-tubulin complex in brain.
Mena/VASP and alphaII-Spectrin complexes regulate cytoplasmic actin networks in cardiomyocytes and protect from conduction abnormalities and dilated cardiomyopathy.
Title: Mena/VASP and αII-Spectrin complexes regulate cytoplasmic actin networks in cardiomyocytes and protect from conduction abnormalities and dilated cardiomyopathy.
Degradation of Spna2 by calpain- and/or caspase is not central to the pathogenesis of 1,2-diacetylbenzene (DAB) axonopathy.
Title: Proximal giant neurofilamentous axonopathy in mice genetically engineered to resist calpain and caspase cleavage of α-II spectrin.
The present study demonstrates the age-dependent intraneuronal presence of an alphaII-spectrin cleavage fragment in mammalian forebrain which is exacerbated in a transgenic model of AD.
Title: Age-related intraneuronal elevation of αII-spectrin breakdown product SBDP120 in rodent forebrain accelerates in 3×Tg-AD mice.
alphaII-spectrin deficiency is embryonic lethal, with cardiac, craniofacial and neural tube malformations.
Title: Cell organization, growth, and neural and cardiac development require αII-spectrin.
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 (16)

Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_11451-11452:1000485917:1 (e-PCR)
- UniSTS:267189

AI747678 (e-PCR)
- UniSTS:207306

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calmodulin 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 spectrin binding	IDA Inferred from Direct Assay more info	PubMed
enables spectrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament capping	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	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 cytosol	TAS Traceable Author Statement more info
located_in fascia adherens	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
is_active_in paranodal junction	IDA Inferred from Direct Assay more info	PubMed
located_in paranode region of axon	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	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: spectrin alpha chain, non-erythrocytic 1

Names: alpha-II spectrin; alpha-spectrin 2, brain; alphaII-spectrin; fodrin alpha chain; spectrin alpha chain, brain; spectrin, non-erythroid alpha chain

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_001177667.1 → NP_001171138.1 spectrin alpha chain, non-erythrocytic 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 4. It encodes isoform 2, which is shorter than isoform 4.

Source sequence(s)

BC150941, BC158015, CJ054332, CX206486

Consensus CDS

CCDS50558.1

UniProtKB/TrEMBL

A3KGU7, B2RXX6, B9EKJ1

Related

ENSMUSP00000097797.3, ENSMUST00000100225.9

Conserved Domains (6) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2332 → 2400

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

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:1663 → 1767

Spectrin; Spectrin repeat

pfam08726
Location:2407 → 2475

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:2335 → 2400

EF-hand_7; EF-hand domain pair
NM_001177668.1 → NP_001171139.1 spectrin alpha chain, non-erythrocytic 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. It encodes isoform 3, which is shorter than isoform 4.

Source sequence(s)

AK147317, BC172095, CJ054332, CX206486

Consensus CDS

CCDS50559.1

UniProtKB/TrEMBL

A3KGU5, B7ZWK3

Related

ENSMUSP00000109346.2, ENSMUST00000113717.8

Conserved Domains (6) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2312 → 2380

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

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:1643 → 1747

Spectrin; Spectrin repeat

pfam08726
Location:2387 → 2455

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:2315 → 2380

EF-hand_7; EF-hand domain pair
NM_001309460.1 → NP_001296389.1 spectrin alpha chain, non-erythrocytic 1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents the longest transcript and encodes the longest protein (isoform 4).

Source sequence(s)

AK132224, AK147317, AL928926, CJ054332, CX206486

Consensus CDS

CCDS38094.2

UniProtKB/TrEMBL

A3KGU9, E9Q447

Related

ENSMUSP00000121116.3, ENSMUST00000129241.3

Conserved Domains (6) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2353 → 2421

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

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:1663 → 1767

Spectrin; Spectrin repeat

pfam08726
Location:2428 → 2496

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:2356 → 2421

EF-hand_7; EF-hand domain pair
NM_001369325.1 → NP_001356254.1 spectrin alpha chain, non-erythrocytic 1 isoform 5

Status: VALIDATED

Source sequence(s)

AL928926

Consensus CDS

CCDS89463.1

UniProtKB/Swiss-Prot

A3KGU6, A3KGU8, P16546, Q8K380, Q9CT05

UniProtKB/TrEMBL

B2RXX6, B9EKJ1

Related

ENSMUSP00000092697.5, ENSMUST00000095083.11

Conserved Domains (6) summary

smart00150
Location:893 → 971

SPEC; Spectrin repeats

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2327 → 2395

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

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; ...

pfam08726
Location:2402 → 2470

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1658 → 1760

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_000068.8 Reference GRCm39 C57BL/6J

Range

29855572..29921463

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497809.3 → XP_006497872.1 spectrin alpha chain, non-erythrocytic 1 isoform X1

UniProtKB/TrEMBL

E9Q447

Conserved Domains (6) summary

smart00150
Location:905 → 983

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2365 → 2433

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

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; ...

pfam08726
Location:2440 → 2508

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1675 → 1777

Spectrin; Spectrin repeat
XM_006497813.5 → XP_006497876.1 spectrin alpha chain, non-erythrocytic 1 isoform X4

UniProtKB/TrEMBL

B2RXX6, B9EKJ1

Conserved Domains (6) summary

smart00150
Location:905 → 983

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2344 → 2412

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

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; ...

pfam08726
Location:2419 → 2487

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1675 → 1777

Spectrin; Spectrin repeat
XM_006497810.3 → XP_006497873.1 spectrin alpha chain, non-erythrocytic 1 isoform X2

UniProtKB/TrEMBL

E9Q447

Conserved Domains (6) summary

smart00150
Location:905 → 983

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2360 → 2428

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

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; ...

pfam08726
Location:2435 → 2503

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1670 → 1772

Spectrin; Spectrin repeat
XM_006497814.3 → XP_006497877.1 spectrin alpha chain, non-erythrocytic 1 isoform X5

UniProtKB/TrEMBL

B2RXX6, B9EKJ1

Conserved Domains (6) summary

smart00150
Location:905 → 983

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2339 → 2407

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

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; ...

pfam08726
Location:2414 → 2482

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1670 → 1772

Spectrin; Spectrin repeat
XM_006497812.3 → XP_006497875.1 spectrin alpha chain, non-erythrocytic 1 isoform X3

UniProtKB/TrEMBL

E9Q447

Conserved Domains (6) summary

smart00150
Location:905 → 983

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2345 → 2413

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

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; ...

pfam08726
Location:2420 → 2488

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1655 → 1757

Spectrin; Spectrin repeat
XM_006497815.5 → XP_006497878.1 spectrin alpha chain, non-erythrocytic 1 isoform X6

UniProtKB/TrEMBL

B7ZWK3

Conserved Domains (6) summary

smart00150
Location:905 → 983

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2324 → 2392

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

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; ...

pfam08726
Location:2399 → 2467

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1655 → 1757

Spectrin; Spectrin repeat
XM_006497816.5 → XP_006497879.1 spectrin alpha chain, non-erythrocytic 1 isoform X7

UniProtKB/TrEMBL

B7ZWK3

Related

ENSMUSP00000047792.8, ENSMUST00000046257.14

Conserved Domains (6) summary

smart00150
Location:905 → 983

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2319 → 2387

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

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; ...

pfam08726
Location:2394 → 2462

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1650 → 1752

Spectrin; Spectrin repeat

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001076554.2: Suppressed sequence

Description

NM_001076554.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.