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    Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [ Mus musculus (house mouse) ]

    Gene ID: 380698, updated on 3-Dec-2024

    Summary

    Official Symbol
    Obscnprovided by MGI
    Official Full Name
    obscurin, cytoskeletal calmodulin and titin-interacting RhoGEFprovided by MGI
    Primary source
    MGI:MGI:2681862
    See related
    Ensembl:ENSMUSG00000061462 AllianceGenome:MGI:2681862
    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
    Gm878; UNC89
    Summary
    The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 800 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein is one of three giant sacromeric signaling proteins that includes titin and nebulin. It may have a role in the organization of myofibrils during assembly and also may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been described although the full-length nature is not known for all splicing variants. [provided by RefSeq, Jan 2010]
    Expression
    Biased expression in heart adult (RPKM 40.7), mammary gland adult (RPKM 7.2) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Obscn in Genome Data Viewer
    Location:
    11 B1.3; 11 36.4 cM
    Exon count:
    114
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (58885082..59027201, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (58994256..59136375, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2310058D17 gene Neighboring gene tripartite motif-containing 17 Neighboring gene STARR-seq mESC enhancer starr_29613 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:58796334-58796535 Neighboring gene H3.4 histone, cluster member Neighboring gene tripartite motif-containing 11 Neighboring gene predicted gene 10435 Neighboring gene STARR-seq mESC enhancer starr_29614 Neighboring gene STARR-positive B cell enhancer ABC_E5231 Neighboring gene STARR-seq mESC enhancer starr_29616 Neighboring gene IBA57 homolog, iron-sulfur cluster assembly Neighboring gene gap junction protein, gamma 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (2) 
    • Spontaneous (1)  1 citation
    • Targeted (4)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC51514

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ankyrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-5-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-5-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables titin binding 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 M band ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    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
     
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcomere ISO
    Inferred from Sequence Orthology
    more info
     
    located_in striated muscle myosin thick filament ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    obscurin
    Names
    obscurin-MLCK
    obscurin-RhoGEF
    obscurin-myosin light chain kinase
    NP_001164983.2
    NP_954603.3

    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_001171512.3NP_001164983.2  obscurin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL645854, AL662809
      Consensus CDS
      CCDS56775.1
      UniProtKB/Swiss-Prot
      A2AAJ9, A2AB85, B2FDE7, Q695L2, Q811H7
      UniProtKB/TrEMBL
      H7BX05
      Related
      ENSMUSP00000038264.8, ENSMUST00000047441.14
      Conserved Domains (15) summary
      cd00096
      Location:53755444
      Ig; Immunoglobulin domain
      smart00408
      Location:63506418
      IGc2; Immunoglobulin C-2 Type
      cd12025
      Location:58315893
      SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
      smart00060
      Location:76207698
      FN3; Fibronectin type 3 domain
      smart00220
      Location:65626815
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:246326
      IG; Immunoglobulin
      smart00410
      Location:63496427
      IG_like; Immunoglobulin like
      cd00063
      Location:47494834
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:998
      I-set; Immunoglobulin I-set domain
      cd13239
      Location:61116235
      PH_Obscurin; Obscurin pleckstrin homology (PH) domain
      pfam00047
      Location:42114279
      ig; Immunoglobulin domain
      pfam13895
      Location:32583337
      Ig_2; Immunoglobulin domain
      cl02571
      Location:59266102
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cl11960
      Location:890
      Ig; Immunoglobulin domain
      cl21453
      Location:65596815
      PKc_like; Protein Kinases, catalytic domain
    2. NM_001428368.1NP_001415297.1  obscurin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL645854, AL662809
      UniProtKB/Swiss-Prot
      A2AAJ9, A2AB85, B2FDE7, Q695L2, Q811H7
    3. NM_199152.4NP_954603.3  obscurin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL645854, AL662809
      Consensus CDS
      CCDS56774.1
      UniProtKB/TrEMBL
      E9QQ96, Z4YJE4
      Related
      ENSMUSP00000049737.8, ENSMUST00000052872.15
      Conserved Domains (14) summary
      cd00096
      Location:60286097
      Ig; Immunoglobulin domain
      smart00015
      Location:57545775
      IQ; Calmodulin-binding motif
      smart00408
      Location:70037071
      IGc2; Immunoglobulin C-2 Type
      cd12025
      Location:64846546
      SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
      smart00409
      Location:70027080
      IG; Immunoglobulin
      smart00410
      Location:53175398
      IG_like; Immunoglobulin like
      cd00063
      Location:54025487
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:998
      I-set; Immunoglobulin I-set domain
      cd13239
      Location:67646888
      PH_Obscurin; Obscurin pleckstrin homology (PH) domain
      pfam00047
      Location:47724840
      ig; Immunoglobulin domain
      pfam00169
      Location:67786882
      PH; PH domain
      pfam13895
      Location:34673546
      Ig_2; Immunoglobulin domain
      cl02571
      Location:65796755
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cl11960
      Location:890
      Ig; Immunoglobulin domain

    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
      58885082..59027201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)