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

Gene ID: 98733, updated on 3-Apr-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 homophilic cell adhesion via plasma membrane adhesion molecules; nervous system development; and retina layer formation. Predicted to be located in Golgi apparatus; centrosome; and perinuclear region of cytoplasm. Predicted to be part of 3M complex. Predicted to be active in synapse. 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, Apr 2022]
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. 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
  4. 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
  5. New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules. Das R, et al. J Cell Sci, 2019 Jun 17. PMID 31138677, Free PMC Article

See all (19) 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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 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
  
Component Evidence Code Pubs
part_of 3M complex ISO
Inferred from Sequence Orthology
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 cytoplasm ISO
Inferred from Sequence Orthology
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

  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

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