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    JRKL JRK like [ Homo sapiens (human) ]

    Gene ID: 8690, updated on 28-Oct-2024

    Summary

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    Official Symbol
    JRKLprovided by HGNC
    Official Full Name
    JRK likeprovided by HGNC
    Primary source
    HGNC:HGNC:6200
    See related
    Ensembl:ENSG00000183340 MIM:603211; AllianceGenome:HGNC:6200
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HHMJG
    Summary
    The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in ovary (RPKM 7.1), thyroid (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JRKL in Genome Data Viewer
    Location:
    11q21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (96390013..96393561)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (96396017..96399565)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (96123177..96126725)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mastermind like transcriptional coactivator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3854 Neighboring gene microRNA 1260b Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3855 Neighboring gene coiled-coil domain containing 82 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:96143892-96144538 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:96144539-96145185 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:96160777-96160989 Neighboring gene JRKL antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:96205677-96206178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:96206179-96206678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:96220661-96221455 Neighboring gene RNA, 5S ribosomal pseudogene 346 Neighboring gene long intergenic non-protein coding RNA 2737

    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 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. Cloning, mapping, and tissue distribution of a human homologue of the mouse jerky gene product. Zeng Z, et al. Biochem Biophys Res Commun, 1997 Jul 18. PMID 9240447
    2. PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. Wang KS, et al. J Mol Neurosci, 2012 Sep. PMID 22648509
    3. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article
    4. The cell proliferation antigen Ki-67 organises heterochromatin. Sobecki M, et al. Elife, 2016 Mar 7. PMID 26949251, Free PMC Article
    5. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. Nakamura K, et al. Nat Cell Biol, 2019 Mar. PMID 30804502, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129608

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    jerky protein homolog-like
    Names
    human homolog of mouse jerky gene protein

    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_001261833.2 → NP_001248762.1  jerky protein homolog-like

      See identical proteins and their annotated locations for NP_001248762.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF004715, AK290579, BC109202, CA503357
      Consensus CDS
      CCDS8308.1
      UniProtKB/Swiss-Prot
      A8K3G4, B2RAJ3, Q32MC2, Q9Y4A0
      Related
      ENSP00000333350.4, ENST00000332349.5
      Conserved Domains (3) summary
      smart00674
      Location:73 → 139
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:206 → 385
      DDE_1; DDE superfamily endonuclease
      cl21459
      Location:4 → 52
      HTH; Helix-turn-helix domains

    2. NM_003772.4 → NP_003763.2  jerky protein homolog-like

      See identical proteins and their annotated locations for NP_003763.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is intronless. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF004715, CA503357, DB030091, DB084056
      Consensus CDS
      CCDS8308.1
      UniProtKB/Swiss-Prot
      A8K3G4, B2RAJ3, Q32MC2, Q9Y4A0
      Conserved Domains (3) summary
      smart00674
      Location:73 → 139
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:206 → 385
      DDE_1; DDE superfamily endonuclease
      cl21459
      Location:4 → 52
      HTH; Helix-turn-helix domains

    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
      96390013..96393561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      96396017..96399565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4A0.2 GenPept UniProtKB/Swiss-Prot:Q9Y4A0

    Gene LinkOut

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

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