Gene Gene information from NCBI Gene database.
Entrez ID 55355
Gene name Holliday junction recognition protein
Gene symbol HJURP
Synonyms (NCBI Gene)
FAKTSURLC9hFLEG1
Chromosome 2
Chromosome location 2q37.1
miRNA miRNA information provided by mirtarbase database.
144
miRTarBase ID miRNA Experiments Reference
MIRT024443 hsa-miR-215-5p Microarray 19074876
MIRT026468 hsa-miR-192-5p Microarray 19074876
MIRT039300 hsa-miR-671-5p CLASH 23622248
MIRT691145 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT691144 hsa-miR-6511a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IBA
GO:0000775 Component Chromosome, centromeric region IDA 19410544
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 19410545
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612667 25444 ENSG00000123485
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NCD3
Protein name Holliday junction recognition protein (14-3-3-associated AKT substrate) (Fetal liver-expressing gene 1 protein) (Up-regulated in lung cancer 9)
Protein function Centromeric protein that plays a central role in the incorporation and maintenance of histone H3-like variant CENPA at centromeres. Acts as a specific chaperone for CENPA and is required for the incorporation of newly synthesized CENPA molecules
PDB 3R45
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10384 Scm3 18 75 Centromere protein Scm3 Family
PF12346 HJURP_mid 271 385 Holliday junction recognition protein-associated repeat Domain
PF12347 HJURP_C 409 470 Holliday junction regulator protein family C-terminal repeat Domain
PF12347 HJURP_C 554 613 Holliday junction regulator protein family C-terminal repeat Domain
Tissue specificity TISSUE SPECIFICITY: According to PubMed:17256767, highly expressed in the thymus with lower levels in the placenta, small intestine, liver, skeletal muscle, and colon. According to PubMed:17823411, highly expressed in testis, and at a relatively lower lev
Sequence
MLGTLRAMEGEDVEDDQLLQKLRASRRRFQRRMQRLIEKYNQPFEDTPVVQMATLTYETP
QGLRIWGGRLIKERN
EGEIQDSSMKPADRTDGSVQAAAWGPELPSHRTVLGADSKSGEVD
ATSDQEESVAWALAPAVPQSPLKNELRRKYLTQVDILLQGAEYFECAGNRAGRDVRVTPL
PSLASPAVPAPGYCSRISRKSPGDPAKPASSPREWDPLHPSSTDMALVPRNDSLSLQETS
SSSFLSSQPFEDDDICNVTISDLYAGMLHSMSRLLSTKPSSIISTKTFIMQNWNSRRRHR
YKSRMNKTYCKGARRSQRSSKENFIPCSEPVKGTGALRDCKNVLDVSCRKTGLKLEKAFL
EVNRPQIHKLDPSWKERKVTPSKYS
SLIYFDSSATYNLDEENRFRTLKWLISPVKIVSRP
TIRQGHGENRQREIEIRFDQLHREYCLSPRNQPRRMCLPDSWAMNMYRGG
PASPGGLQGL
ETRRLSLPSSKAKAKSLSEAFENLGKRSLEAGRCLPKSDSSSSLPKTNPTHSATRPQQTS
DLHVQGNSSGIFRKSVSPSKTLSVPDKEVPGHGRNRYDEIKEEFDKLHQKYCLKSPGQMT
VPLCIGVSTDKAS
MEVRYQTEGFLGKLNPDPHFQGFQKLPSSPLGCRKSLLGSTAIEAPS
STCVARAITRDGTRDHQFPAKRPRLSEPQGSGRQGNSLGASDGVDNTVRPGDQGSSSQPN
SEERGENTSYRMEEKSDFMLEKLETKSV
Sequence length 748
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Deposition of new CENPA-containing nucleosomes at the centromere
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 32439850 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 23638004 Stimulate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28819432
★☆☆☆☆
Found in Text Mining only
Brain Tumor, Primary Brain Neoplasms BEFREE 31138900
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20211017, 20497617
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20211017, 20497617, 25497280, 28351365 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20334636 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26863619, 31223275, 35783358, 39596041 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 28819432
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28410204
★☆☆☆☆
Found in Text Mining only