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

    Gene ID: 20742, updated on 16-Jul-2017
    Official Symbol
    Sptbn1provided by MGI
    Official Full Name
    spectrin beta, non-erythrocytic 1provided by MGI
    Primary source
    MGI:MGI:98388
    See related
    Ensembl:ENSMUSG00000020315 Vega:OTTMUSG00000005341
    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; AL033301; mKIAA4049; 9930031C03Rik
    Orthologs
    Location:
    11 A3.3; 11 17.44 cM
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (30099395..30268205, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (29999395..30119772, complement)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene echinoderm microtubule associated protein like 6 Neighboring gene 60S ribosomal protein L23a pseudogene Neighboring gene predicted gene 12095 Neighboring gene predicted gene, 40820 Neighboring gene stress-induced phosphoprotein 1 pseudogene

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA4049

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    ankyrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    cadherin binding ISO
    Inferred from Sequence Orthology
    more info
     
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    structural constituent of cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    Golgi to plasma membrane protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    SMAD protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    common-partner SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane assembly ISO
    Inferred from Sequence Orthology
    more info
     
    mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane organization ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of interleukin-2 secretion ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    M band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cortical cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cuticular plate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic density of dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    spectrin IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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/Swiss-Prot
      Q62261
      UniProtKB/TrEMBL
      Q3TTX2, Q3TZN6
      Related
      ENSMUSP00000099902.3, OTTMUSP00000005520, ENSMUST00000102838.9, OTTMUST00000011918
      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
      Q62261
      UniProtKB/TrEMBL
      Q3TZN6, Q8BQ35, Q8R1C2
      Related
      ENSMUSP00000011877.6, ENSMUST00000011877.12
      Conserved Domains (5) summary
      cd00014
      Location:174277
      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: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
      pfam00169
      Location:21992306
      PH; PH domain
      pfam00435
      Location:422525
      Spectrin; Spectrin repeat

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      30099395..30268205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514599.3XP_006514662.1  spectrin beta chain, non-erythrocytic 1 isoform X1

      See identical proteins and their annotated locations for XP_006514662.1

      UniProtKB/Swiss-Prot
      Q62261
      Related
      ENSMUSP00000006629.7, OTTMUSP00000005519, ENSMUST00000006629.13, OTTMUST00000011917
      Conserved Domains (5) summary
      cd00014
      Location:174277
      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: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
      pfam00169
      Location:21992306
      PH; PH domain
      pfam00435
      Location:422525
      Spectrin; Spectrin repeat
    2. XM_006514600.3XP_006514663.1  spectrin beta chain, non-erythrocytic 1 isoform X1

      See identical proteins and their annotated locations for XP_006514663.1

      UniProtKB/Swiss-Prot
      Q62261
      Conserved Domains (5) summary
      cd00014
      Location:174277
      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: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
      pfam00169
      Location:21992306
      PH; PH domain
      pfam00435
      Location:422525
      Spectrin; Spectrin repeat
    3. XM_006514601.2XP_006514664.1  spectrin beta chain, non-erythrocytic 1 isoform X2

      Conserved Domains (5) 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; ...
      cd10571
      Location:21862291
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:21862293
      PH; PH domain
      pfam00435
      Location:409512
      Spectrin; Spectrin repeat

    RNA

    1. XR_001779935.1 RNA Sequence

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