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    Obsl1 obscurin-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 98733, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Obsl1provided by MGI
    Official Full Name
    obscurin-like 1provided by MGI
    Primary source
    MGI:MGI:2138628
    See related
    Ensembl:ENSMUSG00000026211 AllianceGenome:MGI:2138628
    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
    Summary
    Predicted to be involved in several processes, including positive regulation of dendrite morphogenesis; protein localization to Golgi apparatus; and regulation of mitotic nuclear division. Predicted to be located in Golgi apparatus; centrosome; and perinuclear region of cytoplasm. Predicted to be part of 3M complex. Human ortholog(s) of this gene implicated in 3-M syndrome. Orthologous to human OBSL1 (obscurin like cytoskeletal adaptor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in ovary adult (RPKM 125.4), limb E14.5 (RPKM 44.0) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Obsl1 in Genome Data Viewer
    Location:
    1 C4; 1 39.15 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (75462469..75483134, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (75485825..75506486, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene acid-sensing ion channel family member 4 Neighboring gene predicted gene, 32506 Neighboring gene STARR-positive B cell enhancer ABC_E1997 Neighboring gene chondroitin polymerizing factor Neighboring gene transmembrane protein 198 Neighboring gene STARR-seq mESC enhancer starr_01360 Neighboring gene inhibin alpha Neighboring gene STARR-positive B cell enhancer ABC_E5772 Neighboring gene STARR-positive B cell enhancer ABC_E5773 Neighboring gene STARR-positive B cell enhancer ABC_E4325 Neighboring gene serine/threonine kinase 11 interacting protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. Blondelle J, et al. Commun Biol, 2019. PMID 31098411, Free PMC Article
    2. Genome-wide CRISPR Screen to Identify Genes that Suppress Transformation in the Presence of Endogenous Kras(G12D). Huang J, et al. Sci Rep, 2019 Nov 20. PMID 31748650, Free PMC Article
    3. TWIST1 and chromatin regulatory proteins interact to guide neural crest cell differentiation. Fan X, et al. Elife, 2021 Feb 8. PMID 33554859, Free PMC Article
    4. Expression of the immunoglobulin superfamily cell adhesion molecules in the developing spinal cord and dorsal root ganglion. Gu Z, et al. PLoS One, 2015. PMID 25826454, Free PMC Article
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in Golgi organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of dendrite morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitotic nuclear division ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of 3M complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of 3M complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    obscurin-like protein 1
    NP_001297608.1
    NP_001390042.1
    NP_001390043.1
    NP_849215.4
    XP_017168548.2

    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_001310679.1 → NP_001297608.1  obscurin-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001297608.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC115011, AK031074, AK162473, BX512756
      Consensus CDS
      CCDS78624.1
      UniProtKB/TrEMBL
      A0A0B4J1L4
      Related
      ENSMUSP00000109195.3, ENSMUST00000113565.3
      Conserved Domains (6) summary
      cd00096
      Location:825 → 893
      Ig; Immunoglobulin domain
      smart00408
      Location:142 → 216
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:134 → 226
      IG_like; Immunoglobulin like
      cd00063
      Location:518 → 602
      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:342 → 426
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:252 → 336
      Ig; Immunoglobulin domain

    2. NM_001403113.1 → NP_001390042.1  obscurin-like protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115011, AEKQ02010695
      UniProtKB/Swiss-Prot
      D3YYU8, F7AD47, Q80WA6

    3. NM_001403114.1 → NP_001390043.1  obscurin-like protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115011

    4. NM_178884.6 → NP_849215.4  obscurin-like protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC115011, AEKQ02010695
      Consensus CDS
      CCDS15077.2
      UniProtKB/Swiss-Prot
      D3YYU8, F7AD47, Q80WA6
      UniProtKB/TrEMBL
      A0A803ZIZ6
      Related
      ENSMUSP00000109197.4, ENSMUST00000113567.10
      Conserved Domains (5) summary
      smart00410
      Location:134 → 226
      IG_like; Immunoglobulin like
      cd00063
      Location:518 → 602
      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:12 → 88
      I-set; Immunoglobulin I-set domain
      cd00096
      Location:29 → 33
      Ig; Ig strand B [structural motif]
      cl11960
      Location:1179 → 1264
      Ig; Immunoglobulin domain

    RNA

    1. NR_175351.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC115011, AEKQ02010695

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      75462469..75483134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313059.3 → XP_017168548.2  obscurin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3YYU8, F7AD47, Q80WA6
      Conserved Domains (6) summary
      smart00409
      Location:1726 → 1804
      IG; Immunoglobulin
      smart00410
      Location:134 → 226
      IG_like; Immunoglobulin like
      cd00063
      Location:518 → 602
      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:12 → 88
      I-set; Immunoglobulin I-set domain
      cd00096
      Location:1273 → 1275
      Ig; Ig strand A [structural motif]
      cl11960
      Location:1273 → 1354
      Ig; Immunoglobulin domain

    RNA

    1. XR_004935358.1 RNA Sequence

    2. XR_004935357.1 RNA Sequence

    3. XR_004935359.1 RNA Sequence

    4. XR_004935360.1 RNA Sequence

    5. XR_003947539.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3YYU8.1 GenPept UniProtKB/Swiss-Prot:D3YYU8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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