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JRKL JRK like [ Homo sapiens (human) ]

Gene ID: 8690, updated on 2-Nov-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

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