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    Ocel1 occludin/ELL domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 77090, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ocel1provided by MGI
    Official Full Name
    occludin/ELL domain containing 1provided by MGI
    Primary source
    MGI:MGI:1924340
    See related
    Ensembl:ENSMUSG00000002396 AllianceGenome:MGI:1924340
    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
    9430098E02Rik
    Summary
    Predicted to be involved in bicellular tight junction assembly. Predicted to be active in apical plasma membrane; bicellular tight junction; and cytoplasmic vesicle. Orthologous to human OCEL1 (occludin/ELL domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in duodenum adult (RPKM 21.3), small intestine adult (RPKM 18.9) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ocel1 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.43 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (71823942..71826333)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (71371298..71373689)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene 4HAUS augmin-like complex, subunit 8 Neighboring gene STARR-positive B cell enhancer ABC_E1105 Neighboring gene myosin IXb Neighboring gene STARR-positive B cell enhancer ABC_E6650 Neighboring gene unconventional SNARE in the ER 1 homolog (S. cerevisiae) Neighboring gene STARR-seq mESC enhancer starr_21812 Neighboring gene nuclear receptor subfamily 2, group F, member 6 Neighboring gene USH1 protein network component harmonin binding protein 1

    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. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    2. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    3. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    occludin/ELL domain-containing protein 1

    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_001293800.1 → NP_001280729.1  occludin/ELL domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK163762
      Consensus CDS
      CCDS80892.1
      UniProtKB/TrEMBL
      D3Z3P2
      Related
      ENSMUSP00000105678.2, ENSMUST00000110051.2

    2. NM_029865.2 → NP_084141.2  occludin/ELL domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_084141.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC127416, AK020528, AK163762, BY542600
      Consensus CDS
      CCDS22391.1
      UniProtKB/Swiss-Prot
      Q3U2L0, Q8VCR9, Q9CX17
      UniProtKB/TrEMBL
      G5E815
      Related
      ENSMUSP00000002469.9, ENSMUST00000002469.9
      Conserved Domains (1) summary
      pfam07303
      Location:109 → 206
      Occludin_ELL; Occludin homology domain

    RNA

    1. NR_122030.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an exon and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK163762, BB766991

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      71823942..71826333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCR9.1 GenPept UniProtKB/Swiss-Prot:Q8VCR9

    Gene LinkOut

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

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