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

Gene ID: 55355, updated on 13-Mar-2020

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
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
Expression
Biased expression in bone marrow (RPKM 15.6), testis (RPKM 7.0) and 11 other tissues See more
Orthologs
mouse all

Genomic context

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See HJURP in Genome Data Viewer
Location:
2q37.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (233836701..233854566, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234745486..234763212, 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 MSL complex subunit 3 pseudogene 1 Neighboring gene transient receptor potential cation channel subfamily M member 8

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. Increased Expression of Holliday Junction-Recognizing Protein (HJURP) as an Independent Prognostic Biomarker in Advanced-Stage Serous Ovarian Carcinoma. Li L, et al. Med Sci Monit, 2018 May 10. PMID 29743473, Free PMC Article
  2. 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
  3. 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
  4. HJURP is involved in the expansion of centromeric chromatin. Perpelescu M, et al. Mol Biol Cell, 2015 Aug 1. PMID 26063729, 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 (52) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data show that the MIS18 kinetochore protein A (Mis18alpha) N-terminal region modulates Holliday junction recognition protein (HJURP) binding.
    Title: Mechanism of centromere recruitment of the CENP-A chaperone HJURP and its implications for centromere licensing.
  2. these data define a novel molecular mechanism underlying the assembly of CENP-T onto the centromere by a temporally regulated HJURP-CENP-T interaction.
    Title: Holliday junction recognition protein interacts with and specifies the centromeric assembly of CENP-T.
  3. H3.3 chaperones HIRA and DAXX promote ectopic CENP-A deposition.
    Title: HJURP antagonizes CENP-A mislocalization driven by the H3.3 chaperones HIRA and DAXX.
  4. HJURP expression was higher in HCC tissues than in para-tumor tissues. Moreover, ectopic HJURP expression facilitated the proliferation of HCC cells, whereas the depletion of HJURP resulted in decreased cell growth in vitro and in vivo. Furthermore, the effects of HJURP silencing were reversed by p21 knockdown.
    Title: HJURP promotes hepatocellular carcinoma proliferation by destabilizing p21 via the MAPK/ERK1/2 and AKT/GSK3β signaling pathways.
  5. Increased expression of HJURP was identified as an independent negative prognostic biomarker for patients with advanced serous ovarian cancer.
    Title: Increased Expression of Holliday Junction-Recognizing Protein (HJURP) as an Independent Prognostic Biomarker in Advanced-Stage Serous Ovarian Carcinoma.
  6. during the CENP-A/H4 deposition process, the chaperone HJURP protects various substructures of the dimer, serving both as a folding and binding chaperone
    Title: Promiscuous Histone Mis-Assembly Is Actively Prevented by Chaperones.
  7. Functional p53 elicits a cell cycle arrest response, whereas, in p53-null transformed cells, the absence of arrest enables the loss of HJURP to induce severe aneuploidy and, ultimately, apoptotic cell death
    Title: Essential role for centromeric factors following p53 loss and oncogenic transformation.
  8. An increased occurrence of hepatocellular carcinoma was consistently associated with A/C or C/C genotypes of the non-synonymous SNP rs3771333 compared with the A/A genotype in both the Fusui and Haimen populations.
    Title: A Non-Synonymous Single Nucleotide Polymorphism in the HJURP Gene Associated with Susceptibility to Hepatocellular Carcinoma among Chinese.
  9. Authors propose that this centromere expansion activity reflects the functional properties of HJURP, which uses this activity to contribute to the plastic establishment of a centromeric chromatin structure.
    Title: HJURP is involved in the expansion of centromeric chromatin.
  10. 3 biomarkers in 44 patients with in situ breast cancers were evaluated: TG2 (transglutaminase 2), HJURP (Holliday junction recognition protein), and HIF-1alpha (hypoxia inducible factor-1 alpha).
    Title: New biomarkers to predict the evolution of in situ breast cancers.
Submit: New GeneRIF Correction See all GeneRIFs (28)

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)

Genotypes

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
DNA binding IEA
Inferred from Electronic Annotation
more info
  
histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
histone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
CENP-A containing nucleosome assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
CENP-A containing nucleosome assembly TAS
Traceable Author Statement
more info
  
cell cycle IEA
Inferred from Electronic Annotation
more info
  
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
chromosome, centromeric region IDA
Inferred from Direct Assay
more info
 PubMed 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
  
nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
  
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_001282962.1 → 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/Swiss-Prot
    Q8NCD3
    Related
    ENSP00000407208.1, ENST00000432087.5
    Conserved Domains (2) summary
    pfam12346
    Location:217 → 331
    HJURP_mid; Holliday junction recognition protein-associated repeat
    pfam12347
    Location:356 → 414
    HJURP_C; Holliday junction regulator protein family C-terminal repeat

  2. NM_001282963.1 → 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/Swiss-Prot
    Q8NCD3
    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
    Q8NCD3
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    233836701..233854566 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511437.1 → XP_011509739.1  Holliday junction recognition protein isoform X1

    Conserved Domains (2) summary
    pfam12346
    Location:159 → 273
    HJURP_mid; Holliday junction recognition protein-associated repeat
    pfam12347
    Location:298 → 356
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
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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