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    JHY junctional cadherin complex regulator [ Homo sapiens (human) ]

    Gene ID: 79864, updated on 10-Dec-2024

    Summary

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    Official Symbol
    JHYprovided by HGNC
    Official Full Name
    junctional cadherin complex regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:26288
    See related
    Ensembl:ENSG00000109944 MIM:617594; AllianceGenome:HGNC:26288
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C11orf63
    Summary
    Predicted to be involved in axoneme assembly and brain development. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; motile cilium assembly; and regulation of establishment of planar polarity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 7.4), kidney (RPKM 1.8) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JHY in Genome Data Viewer
    Location:
    11q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (122882759..122963862)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (122910522..122991609)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (122753467..122834570)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ubiquitin associated and SH3 domain containing B Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:122615185-122616152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5669 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:122625977-122626130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:122673978-122674720 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:122675524-122676042 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:122683300-122683908 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:122683909-122684516 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:122702884-122703556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5674 Neighboring gene cytotoxic and regulatory T cell molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4010 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:122791170-122791781 Neighboring gene RNA, U4 small nuclear 23, pseudogene Neighboring gene uncharacterized LOC124902774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:122847076-122847894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:122849402-122850004 Neighboring gene ATP synthase peripheral stalk-membrane subunit b pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:122851848-122852350 Neighboring gene Sharpr-MPRA regulatory region 1125 Neighboring gene brain specific homeobox Neighboring gene SAE1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. 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
    2. The F-box protein FBXO25 promotes the proteasome-dependent degradation of ELK-1 protein. Teixeira FR, et al. J Biol Chem, 2013 Sep 27. PMID 23940030, Free PMC Article
    3. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. Persaud A, et al. Mol Syst Biol, 2009. PMID 19953087, Free PMC Article
    4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    5. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23554

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebrospinal fluid circulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of establishment of planar polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    jhy protein homolog
    Names
    juvenile hydrocephalus
    uncharacterized protein C11orf63

    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_001363087.2 → NP_001350016.1  jhy protein homolog isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP003040, AP004318
      Conserved Domains (1) summary
      pfam15261
      Location:645 → 745
      DUF4591; Domain of unknown function (DUF4591)

    2. NM_001363088.2 → NP_001350017.1  jhy protein homolog isoform 4

      Status: VALIDATED

      Source sequence(s)
      AP003040, AP004318
      Conserved Domains (1) summary
      pfam15261
      Location:622 → 734
      DUF4591; Domain of unknown function (DUF4591)

    3. NM_001363089.2 → NP_001350018.1  jhy protein homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      AP003040, AP004318
      Consensus CDS
      CCDS8438.1
      UniProtKB/Swiss-Prot
      A8K6G0, Q6NUN7, Q96GB5, Q9H5D6
      Conserved Domains (1) summary
      pfam15261
      Location:660 → 772
      DUF4591; Domain of unknown function (DUF4591)

    4. NM_024806.4 → NP_079082.2  jhy protein homolog isoform 1

      See identical proteins and their annotated locations for NP_079082.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP003040, AP004318, BC068507
      Consensus CDS
      CCDS8438.1
      UniProtKB/Swiss-Prot
      A8K6G0, Q6NUN7, Q96GB5, Q9H5D6
      Related
      ENSP00000227349.2, ENST00000227349.7
      Conserved Domains (1) summary
      pfam15261
      Location:660 → 772
      DUF4591; Domain of unknown function (DUF4591)

    5. NM_199124.3 → NP_954575.1  jhy protein homolog isoform 2

      See identical proteins and their annotated locations for NP_954575.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons but has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) is much shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK097534, AP004318, BC009820
      Consensus CDS
      CCDS8439.1
      UniProtKB/TrEMBL
      B3KUM2
      Related
      ENSP00000307695.5, ENST00000307257.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      122882759..122963862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      122910522..122991609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUN7.1 GenPept UniProtKB/Swiss-Prot:Q6NUN7

    Gene LinkOut

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

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