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

    Gene ID: 20742, updated on 27-Nov-2024

    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 central nervous system formation and protein localization to plasma membrane. Acts upstream of or within regulation of SMAD protein signal transduction. Located in several cellular components, including M band; axolemma; and cuticular plate. Is expressed in heart; liver; lung; nervous system; and spleen. Used to study Beckwith-Wiedemann syndrome. Orthologous to human SPTBN1 (spectrin beta, non-erythrocytic 1). [provided by Alliance of Genome Resources, Nov 2024]
    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
    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_000077.7Genomic Context describing neighboring genes Neighboring gene echinoderm microtubule associated protein like 6 Neighboring gene STARR-seq mESC enhancer starr_29040 Neighboring gene STARR-seq mESC enhancer starr_29041 Neighboring gene STARR-seq mESC enhancer starr_29042 Neighboring gene STARR-seq mESC enhancer starr_29043 Neighboring gene predicted gene, 22588 Neighboring gene STARR-seq mESC enhancer starr_29044 Neighboring gene predicted gene 12095 Neighboring gene STARR-seq mESC enhancer starr_29045 Neighboring gene STARR-seq mESC enhancer starr_29046 Neighboring gene STARR-seq mESC enhancer starr_29049 Neighboring gene STARR-seq mESC enhancer starr_29053 Neighboring gene STARR-seq mESC enhancer starr_29054 Neighboring gene predicted gene, 53676 Neighboring gene predicted gene, 51887 Neighboring gene STARR-seq mESC enhancer starr_29056 Neighboring gene STARR-seq mESC enhancer starr_29057 Neighboring gene predicted gene 8098 Neighboring gene STARR-seq mESC enhancer starr_29058 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)
    • Endonuclease-mediated (4) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA4049

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables structural constituent of cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    enables structural constituent of cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in 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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic cytokinesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in plasma membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma membrane organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of interleukin-2 production IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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/TrEMBL
      A0A0A0MQG2
      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
      A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7
      UniProtKB/TrEMBL
      A0A0A0MQG2
      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: 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_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
      A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7
      UniProtKB/TrEMBL
      A0A0A0MQG2
      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
      A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7
      UniProtKB/TrEMBL
      A0A0A0MQG2
      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
      A2AFU1, Q3TEM7, Q5SQL8, Q5SQL9, Q62261, Q9QWJ7
      UniProtKB/TrEMBL
      A0A0A0MQG2
      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

      UniProtKB/TrEMBL
      A0A0A0MQG2
      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