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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

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