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    HJURP Holliday junction recognition protein [ Homo sapiens (human) ]

    Gene ID: 55355, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HJURPprovided by HGNC
    Official Full Name
    Holliday junction recognition proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25444
    See related
    Ensembl:ENSG00000123485 MIM:612667; AllianceGenome:HGNC:25444
    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
    FAKTS; URLC9; hFLEG1
    Summary
    Enables histone binding activity and identical protein binding activity. Involved in CENP-A containing chromatin assembly; chromosome segregation; and regulation of protein-containing complex assembly. Located in cytosol; kinetochore; and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bone marrow (RPKM 15.6), testis (RPKM 7.0) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HJURP in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233836702..233854535, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234325468..234351509, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234745348..234763181, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 1 member A complex locus Neighboring gene UDP glucuronosyltransferase family 1 member A8 Neighboring gene UDP glucuronosyltransferase family 1 member A10 Neighboring gene UDP glucuronosyltransferase family 1 member A9 Neighboring gene UDP glucuronosyltransferase family 1 member A7 Neighboring gene UDP glucuronosyltransferase family 1 member A6 Neighboring gene UDP glucuronosyltransferase family 1 member A5 Neighboring gene UDP glucuronosyltransferase family 1 member A4 Neighboring gene UDP glucuronosyltransferase family 1 member A3 Neighboring gene UDP glucuronosyltransferase family 1 member A1 Neighboring gene maestro heat like repeat family member 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234731477-234731977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234759038-234759538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:234763063-234764055 Neighboring gene MSL complex subunit 3B Neighboring gene transient receptor potential cation channel subfamily M member 8 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:234882993-234884192 Neighboring gene Sharpr-MPRA regulatory region 7512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17351 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:234920120-234920398

    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. HJURP is recruited to double-strand break sites and facilitates DNA repair by promoting chromatin reorganization. Serafim RB, et al. Oncogene, 2024 Mar. PMID 38279062
    2. A Non-Synonymous Single Nucleotide Polymorphism in the HJURP Gene Associated with Susceptibility to Hepatocellular Carcinoma among Chinese. Huang W, et al. PLoS One, 2016. PMID 26863619, Free PMC Article
    3. HJURP is involved in the expansion of centromeric chromatin. Perpelescu M, et al. Mol Biol Cell, 2015 Aug 1. PMID 26063729, Free PMC Article
    4. Essential role for centromeric factors following p53 loss and oncogenic transformation. Filipescu D, et al. Genes Dev, 2017 Mar 1. PMID 28356341, Free PMC Article
    5. The histone chaperone HJURP is a new independent prognostic marker for luminal A breast carcinoma. Montes de Oca R, et al. Mol Oncol, 2015 Mar. PMID 25497280, Free PMC Article

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of ASF1A and HJURP by global H3-H4 histone chaperone analysis as a prognostic two-gene model in hepatocellular carcinoma.
      Title: Identification of ASF1A and HJURP by global H3-H4 histone chaperone analysis as a prognostic two-gene model in hepatocellular carcinoma.
    2. HJURP is recruited to double-strand break sites and facilitates DNA repair by promoting chromatin reorganization.
      Title: HJURP is recruited to double-strand break sites and facilitates DNA repair by promoting chromatin reorganization.
    3. NFE2L1 restrains ferroptosis by transcriptionally regulating HJURP and participates in the progress of oral squamous cell carcinoma.
      Title: NFE2L1 restrains ferroptosis by transcriptionally regulating HJURP and participates in the progress of oral squamous cell carcinoma.
    4. HJURP inhibits proliferation of ovarian cancer cells by regulating CENP-A/CENP-N.
      Title: HJURP inhibits proliferation of ovarian cancer cells by regulating CENP-A/CENP-N.
    5. HJURP regulates cell proliferation and chemo-resistance via YAP1/NDRG1 transcriptional axis in triple-negative breast cancer.
      Title: HJURP regulates cell proliferation and chemo-resistance via YAP1/NDRG1 transcriptional axis in triple-negative breast cancer.
    6. Holliday junction recognition protein as a prognostic biomarker and therapeutic target for oral cancer.
      Title: Holliday junction recognition protein as a prognostic biomarker and therapeutic target for oral cancer.
    7. Identification of Prognostic Genes for Colon Cancer through Gene Co-expression Network Analysis.
      Title: Identification of Prognostic Genes for Colon Cancer through Gene Co-expression Network Analysis.
    8. HJURP is a prognostic biomarker for clear cell renal cell carcinoma and is linked to immune infiltration.
      Title: HJURP is a prognostic biomarker for clear cell renal cell carcinoma and is linked to immune infiltration.
    9. Hypomethylation-driven overexpression of HJURP promotes progression of hepatocellular carcinoma and is associated with poor prognosis.
      Title: Hypomethylation-driven overexpression of HJURP promotes progression of hepatocellular carcinoma and is associated with poor prognosis.
    10. HJURP promotes proliferation in prostate cancer cells through increasing CDKN1A degradation via the GSK3beta/JNK signaling pathway.
      Title: HJURP promotes proliferation in prostate cancer cells through increasing CDKN1A degradation via the GSK3β/JNK signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp762E1312

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CENP-A containing chromatin assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in CENP-A containing chromatin assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in chromosome, centromeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    Holliday junction recognition protein
    Names
    14-3-3-associated AKT substrate
    fetal liver expressing gene 1
    fetal liver-expressing gene 1 protein
    up-regulated in lung cancer 9

    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_001282962.2 → NP_001269891.1  Holliday junction recognition protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons that result in the loss of an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB101211, AK303109, BM838206, CA441903, CF619091, DB022872, DB319863, DN998761
      Consensus CDS
      CCDS63167.1
      UniProtKB/TrEMBL
      C9JWC4
      Related
      ENSP00000407208.1, ENST00000432087.5
      Conserved Domains (1) summary
      pfam12346
      Location:217 → 331
      HJURP_mid; Holliday junction recognition protein-associated repeat

    2. NM_001282963.2 → NP_001269892.1  Holliday junction recognition protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three alternate exons that result in the loss of an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AB101211, AK301643, BM838206, CA441903, CF619091, DB319863, DN998761
      Consensus CDS
      CCDS63166.1
      UniProtKB/TrEMBL
      C9JWC4
      Related
      ENSP00000401944.1, ENST00000441687.5
      Conserved Domains (2) summary
      pfam12346
      Location:186 → 300
      HJURP_mid; Holliday junction recognition protein-associated repeat
      pfam12347
      Location:325 → 383
      HJURP_C; Holliday junction regulator protein family C-terminal repeat

    3. NM_018410.5 → NP_060880.3  Holliday junction recognition protein isoform a

      See identical proteins and their annotated locations for NP_060880.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB101211, BM838206, CA441903, CF619091, DB022872, DB319863, DN998761
      Consensus CDS
      CCDS33406.1
      UniProtKB/Swiss-Prot
      A8IRH5, B4DWR0, B4DZV4, Q8NCD3, Q9BUT2, Q9NSL8
      Related
      ENSP00000414109.1, ENST00000411486.7
      Conserved Domains (2) summary
      pfam12346
      Location:271 → 385
      HJURP_mid; Holliday junction recognition protein-associated repeat
      pfam12347
      Location:410 → 468
      HJURP_C; Holliday junction regulator protein family C-terminal repeat

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      233836702..233854535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444911.1 → XP_047300867.1  Holliday junction recognition protein isoform X1

    2. XM_047444910.1 → XP_047300866.1  Holliday junction recognition protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      234325468..234351509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342828.1 → XP_054198803.1  Holliday junction recognition protein isoform X2

    2. XM_054342830.1 → XP_054198805.1  Holliday junction recognition protein isoform X1

    3. XM_054342829.1 → XP_054198804.1  Holliday junction recognition protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCD3.2 GenPept UniProtKB/Swiss-Prot:Q8NCD3

    Gene LinkOut

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

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