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

Gene ID: 55355, updated on 3-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
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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 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)

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
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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