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    Jhy junctional cadherin complex regulator [ Mus musculus (house mouse) ]

    Gene ID: 70989, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Jhyprovided by MGI
    Official Full Name
    junctional cadherin complex regulatorprovided by MGI
    Primary source
    MGI:MGI:1918239
    See related
    Ensembl:ENSMUSG00000032023 AllianceGenome:MGI:1918239
    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
    4931429I11Rik
    Summary
    Acts upstream of or within several processes, including cerebrospinal fluid circulation; cilium assembly; and regulation of establishment of planar polarity. Predicted to be located in extracellular region. Is expressed in spinal cord and spinal cord floor plate. Orthologous to human JHY (junctional cadherin complex regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 5.8) and spleen adult (RPKM 0.2) See more
    Orthologs
    human all
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    Genomic context

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    See Jhy in Genome Data Viewer
    Location:
    9 A5.1; 9 21.68 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (40806147..40877560, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (40894851..40966266, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8284 Neighboring gene STARR-seq mESC enhancer starr_23873 Neighboring gene small nucleolar RNA, C/D box 14E Neighboring gene heat shock protein 8 Neighboring gene brain specific homeobox Neighboring gene ubiquitin specific peptidase 10 pseudogene Neighboring gene cytotoxic and regulatory T cell molecule Neighboring gene ubiquitin associated and SH3 domain containing, B Neighboring gene VISTA enhancer mm1337 Neighboring gene STARR-seq mESC enhancer starr_23876

    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 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. The mouse Jhy gene regulates ependymal cell differentiation and ciliogenesis. Muniz-Talavera H, et al. PLoS One, 2017. PMID 29211732, Free PMC Article
    2. Disruption of the mouse Jhy gene causes abnormal ciliary microtubule patterning and juvenile hydrocephalus. Appelbe OK, et al. Dev Biol, 2013 Oct 1. PMID 23906841, Free PMC Article
    3. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
    4. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    5. 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

    See all (14) 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 (1) 
    • Targeted (2) 
    • Transgenic (1)  1 citation

    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

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of establishment of planar polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    jhy protein
    Names
    juvenile hydrocephalus protein
    uncharacterized protein C11orf63 homolog

    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_001081121.2 → NP_001074590.1  jhy protein isoform b

      See identical proteins and their annotated locations for NP_001074590.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC159820
      Consensus CDS
      CCDS40592.1
      UniProtKB/Swiss-Prot
      E0CX29, E9Q793, Q9CUE4
      Related
      ENSMUSP00000034521.8, ENSMUST00000034521.8
      Conserved Domains (1) summary
      pfam15261
      Location:651 → 764
      DUF4591; Domain of unknown function (DUF4591)

    2. NM_001357359.1 → NP_001344288.1  jhy protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC159820
      Conserved Domains (1) summary
      pfam15261
      Location:656 → 768
      DUF4591; Domain of unknown function (DUF4591)

    3. NM_001357360.1 → NP_001344289.1  jhy protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC159820
      Consensus CDS
      CCDS40592.1
      UniProtKB/Swiss-Prot
      E0CX29, E9Q793, Q9CUE4
      Conserved Domains (1) summary
      pfam15261
      Location:651 → 764
      DUF4591; Domain of unknown function (DUF4591)

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      40806147..40877560 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510600.5 → XP_006510663.1  jhy protein isoform X1

      See identical proteins and their annotated locations for XP_006510663.1

      UniProtKB/Swiss-Prot
      E0CX29, E9Q793, Q9CUE4
      Conserved Domains (1) summary
      pfam15261
      Location:651 → 764
      DUF4591; Domain of unknown function (DUF4591)

    2. XM_006510601.5 → XP_006510664.1  jhy protein isoform X2

      Conserved Domains (1) summary
      pfam15261
      Location:617 → 730
      DUF4591; Domain of unknown function (DUF4591)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9Q793.1 GenPept UniProtKB/Swiss-Prot:E9Q793

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