U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 20740, updated on 8-Jan-2023

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 reorganization. Predicted to act upstream of or within actin filament capping. 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; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E18 (RPKM 112.4), cerebellum adult (RPKM 102.7) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Sptan1 in Genome Data Viewer
Location:
2 B; 2 20.93 cM
Exon count:
59
Annotation release Status Assembly Chr Location
109 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_000068.8Genomic Context describing neighboring genes Neighboring gene outer dense fiber of sperm tails 2 Neighboring gene GLE1 RNA export mediator (yeast) Neighboring gene microRNA 6997 Neighboring gene dynein 2 intermediate chain 2 Neighboring gene SET nuclear oncogene

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 (3)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion 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 
enables syntaxin binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in actin cytoskeleton reorganization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within 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
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 IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
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 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
PubMed 
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

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)

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_001177667.1NP_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
    A0A8C6GP49, A3KGU7, B2RXX6, B9EKJ1
    Related
    ENSMUSP00000097797.3, ENSMUST00000100225.9
    Conserved Domains (6) summary
    cd11808
    Location:9711023
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23322400
    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:679890
    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:16631767
    Spectrin; Spectrin repeat
    pfam08726
    Location:24072475
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:23352400
    EF-hand_7; EF-hand domain pair
  2. NM_001177668.1NP_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:9711023
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23122380
    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:679890
    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:16431747
    Spectrin; Spectrin repeat
    pfam08726
    Location:23872455
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:23152380
    EF-hand_7; EF-hand domain pair
  3. NM_001309460.1NP_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
    A0A8C6GNW1, A3KGU9, Q3V1V5
    Related
    ENSMUSP00000121116.3, ENSMUST00000129241.3
    Conserved Domains (6) summary
    cd11808
    Location:9711023
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23532421
    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:679890
    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:16631767
    Spectrin; Spectrin repeat
    pfam08726
    Location:24282496
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:23562421
    EF-hand_7; EF-hand domain pair
  4. NM_001369325.1NP_001356254.1  spectrin alpha chain, non-erythrocytic 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL928926
    Consensus CDS
    CCDS89463.1
    UniProtKB/Swiss-Prot
    Q9CT05
    UniProtKB/TrEMBL
    A0A8C6GPQ3
    Related
    ENSMUSP00000092697.5, ENSMUST00000095083.11
    Conserved Domains (6) summary
    smart00150
    Location:893971
    SPEC; Spectrin repeats
    cd11808
    Location:9711023
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23272395
    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:679890
    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:24022470
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16581760
    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_000068.8 Reference GRCm39 C57BL/6J

    Range
    29855572..29921463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (6) summary
    smart00150
    Location:905983
    SPEC; Spectrin repeats
    cd11808
    Location:9831035
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23652433
    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:691902
    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:24402508
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16751777
    Spectrin; Spectrin repeat
  2. XM_006497813.5XP_006497876.1  spectrin alpha chain, non-erythrocytic 1 isoform X4

    Conserved Domains (6) summary
    smart00150
    Location:905983
    SPEC; Spectrin repeats
    cd11808
    Location:9831035
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23442412
    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:691902
    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:24192487
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16751777
    Spectrin; Spectrin repeat
  3. XM_006497810.3XP_006497873.1  spectrin alpha chain, non-erythrocytic 1 isoform X2

    Conserved Domains (6) summary
    smart00150
    Location:905983
    SPEC; Spectrin repeats
    cd11808
    Location:9831035
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23602428
    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:691902
    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:24352503
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16701772
    Spectrin; Spectrin repeat
  4. XM_006497814.3XP_006497877.1  spectrin alpha chain, non-erythrocytic 1 isoform X5

    Conserved Domains (6) summary
    smart00150
    Location:905983
    SPEC; Spectrin repeats
    cd11808
    Location:9831035
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23392407
    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:691902
    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:24142482
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16701772
    Spectrin; Spectrin repeat
  5. XM_006497812.3XP_006497875.1  spectrin alpha chain, non-erythrocytic 1 isoform X3

    Conserved Domains (6) summary
    smart00150
    Location:905983
    SPEC; Spectrin repeats
    cd11808
    Location:9831035
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23452413
    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:691902
    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:24202488
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16551757
    Spectrin; Spectrin repeat
  6. XM_006497815.5XP_006497878.1  spectrin alpha chain, non-erythrocytic 1 isoform X6

    Conserved Domains (6) summary
    smart00150
    Location:905983
    SPEC; Spectrin repeats
    cd11808
    Location:9831035
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23242392
    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:691902
    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:23992467
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16551757
    Spectrin; Spectrin repeat
  7. XM_006497816.5XP_006497879.1  spectrin alpha chain, non-erythrocytic 1 isoform X7

    Related
    ENSMUSP00000047792.8, ENSMUST00000046257.14
    Conserved Domains (6) summary
    smart00150
    Location:905983
    SPEC; Spectrin repeats
    cd11808
    Location:9831035
    SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
    cd00051
    Location:23192387
    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:691902
    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:23942462
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam00435
    Location:16501752
    Spectrin; Spectrin repeat

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.