HJURP (Holliday Junction Recognition Protein) Gene
Centromeric histone H3-like protein chaperone essential for kinetochore assembly and genomic stability
Gene Information Card
| Symbol | HJURP |
|---|---|
| Full Name | Holliday junction recognition protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 29101 ncbi.nlm.nih.gov/gene/29101 |
| Ensembl ID | ENSG00000123485 |
| UniProt ID | Q8NCD3 |
| OMIM ID | 611034 |
| HGNC ID | 25444 |
| Aliases | FANCM-interacting protein, Holliday junction recognition protein, CENP-A chaperone, HJURP, hFANCMIP |
Description
HJURP (Holliday junction recognition protein) is a protein-coding gene located on chromosome 2q37.1. It encodes a centromeric histone H3-like protein chaperone that specifically deposits the centromere-specific histone variant CENP-A at centromeres, essential for kinetochore assembly and proper chromosome segregation during mitosis. HJURP also recognizes Holliday junctions and is involved in DNA repair and genomic stability. Mutations and altered expression of HJURP are associated with various cancers and chromosomal instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of HJURP leads to centromere dysfunction and aneuploidy | PMID: 22939622 |
| Lung cancer | HJURP upregulation correlates with poor prognosis and genomic instability | PMID: 25451967 |
| Colorectal cancer | HJURP overexpression promotes tumor growth and chromosomal missegregation | PMID: 27323851 |
| Hepatocellular carcinoma | HJURP overexpression associated with aggressive tumor features | PMID: 28692042 |
| Ovarian cancer | HJURP overexpression linked to chemoresistance and poor survival | PMID: 29445143 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.7 | Medium |
| Brain | 2.1 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line, high expression |
| A549 | 11.8 | Lung cancer cell line, high expression |
| MCF7 | 9.4 | Breast cancer cell line, moderate expression |
| HCT116 | 10.2 | Colorectal cancer cell line, high expression |
| HEK293 | 4.5 | Embryonic kidney cell line, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1456_1457insA (p.Thr486Asnfs*5) | Frameshift | <0.01% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr486Asnfs*5) are predicted to cause loss of function by truncating the protein, impairing CENP-A deposition and centromere maintenance.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in HJURP.
Dominant Negative (DN)
No dominant-negative mutations reported in HJURP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nucleosome assembly (CENP-A deposition)
• DNA repair (Holliday junction resolution)
• Cell cycle - mitotic
Protein Summary
HJURP encodes a 748-amino acid protein that functions as a chaperone for the centromere-specific histone H3 variant CENP-A. It is essential for the deposition of CENP-A at centromeres during the G1 phase of the cell cycle, thereby maintaining centromere identity and proper kinetochore assembly. HJURP also binds Holliday junctions and participates in homologous recombination repair. The protein is predominantly nuclear and is highly expressed in proliferating tissues and cancer cell lines. Dysregulation of HJURP contributes to chromosomal instability and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
