U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 20740, updated on 9-Dec-2024

    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, Dec 2024]
    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
    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_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1583 Neighboring gene outer dense fiber of sperm tails 2 Neighboring gene STARR-positive B cell enhancer ABC_E4425 Neighboring gene GLE1 RNA export mediator Neighboring gene STARR-seq mESC enhancer starr_04079 Neighboring gene STARR-seq mESC enhancer starr_04080 Neighboring gene microRNA 6997 Neighboring gene dynein 2 intermediate chain 2 Neighboring gene STARR-seq mESC enhancer starr_04082 Neighboring gene STARR-positive B cell enhancer ABC_E4426 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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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
      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
      A3KGU9, E9Q447
      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
      A3KGU6, A3KGU8, P16546, Q8K380, Q9CT05
      UniProtKB/TrEMBL
      B2RXX6, B9EKJ1
      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: 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

    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

      UniProtKB/TrEMBL
      E9Q447
      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

      UniProtKB/TrEMBL
      B2RXX6, B9EKJ1
      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

      UniProtKB/TrEMBL
      E9Q447
      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

      UniProtKB/TrEMBL
      B2RXX6, B9EKJ1
      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

      UniProtKB/TrEMBL
      E9Q447
      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

      UniProtKB/TrEMBL
      B7ZWK3
      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

      UniProtKB/TrEMBL
      B7ZWK3
      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.