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    Sptb spectrin beta, erythrocytic [ Mus musculus (house mouse) ]

    Gene ID: 20741, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sptbprovided by MGI
    Official Full Name
    spectrin beta, erythrocyticprovided by MGI
    Primary source
    MGI:MGI:98387
    See related
    Ensembl:ENSMUSG00000021061 AllianceGenome:MGI:98387
    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
    ja; Spnb1; Gm1301; Spnb-1; jaundiced; mKIAA4219; D330027P03Rik
    Summary
    Enables actin filament binding activity. Acts upstream of or within hemopoiesis; plasma membrane organization; and porphyrin-containing compound biosynthetic process. Located in cortical cytoskeleton; plasma membrane; and spectrin-associated cytoskeleton. Is expressed in brain; liver; and spleen. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 2. Orthologous to human SPTB (spectrin beta, erythrocytic). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 27.2), liver E14.5 (RPKM 17.4) and 13 other tissues See more
    Orthologs
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    Genomic context

    See Sptb in Genome Data Viewer
    Location:
    12 C3; 12 33.73 cM
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (76627262..76757321, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (76580488..76710547, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene microRNA 5135 Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 3 Neighboring gene STARR-positive B cell enhancer ABC_E7148 Neighboring gene expressed sequence AI463170 Neighboring gene STARR-seq mESC enhancer starr_32529 Neighboring gene STARR-seq mESC enhancer starr_32530 Neighboring gene STARR-positive B cell enhancer ABC_E8490 Neighboring gene STARR-seq mESC enhancer starr_32532 Neighboring gene STARR-seq mESC enhancer starr_32533 Neighboring gene churchill domain containing 1 Neighboring gene glutathione peroxidase 2

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Spontaneous (2) 
    • Targeted (2)  1 citation

    Interactions

    General gene information

    Clone Names

    • KIAA4219

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding PubMed 
    enables actin filament binding  
    enables actin filament binding PubMed 
    enables actin filament binding  
    enables ankyrin binding  
    enables protein binding PubMed 
    enables structural constituent of cytoskeleton  
    Component Evidence Code Pubs
    is_active_in cell junction  
    is_active_in cell projection  
    located_in cell surface  
    is_active_in cortical actin cytoskeleton  
    located_in cortical cytoskeleton PubMed 
    located_in cytosol  
    is_active_in glutamatergic synapse  
    located_in membrane PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    is_active_in postsynapse  
    part_of protein-containing complex  
    part_of spectrin  
    located_in spectrin-associated cytoskeleton PubMed 
    located_in spectrin-associated cytoskeleton  

    General protein information

    Preferred Names
    spectrin beta chain, erythrocytic
    Names
    beta-I spectrin
    beta-spectrin 1
    brain erythroid spectrin (235E)
    spectrin R
    spectrin beta 1
    spectrin beta chain, erythrocyte

    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)

    1. NM_013675.3NP_038703.3  spectrin beta chain, erythrocytic

      See identical proteins and their annotated locations for NP_038703.3

      Status: VALIDATED

      Source sequence(s)
      AK147299, CD804076
      Consensus CDS
      CCDS36477.1
      UniProtKB/TrEMBL
      B2RX08, Q3UGX2, Q3UGY4
      Related
      ENSMUSP00000021458.7, ENSMUST00000021458.13
      Conserved Domains (7) summary
      smart00150
      Location:13851475
      SPEC; Spectrin repeats
      smart00033
      Location:177273
      CH; Calponin homology domain
      cd00014
      Location:55158
      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:530742
      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:21822287
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:21802288
      PH; PH domain
      pfam00435
      Location:422526
      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_000078.7 Reference GRCm39 C57BL/6J

      Range
      76627262..76757321 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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