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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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