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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Likely benign rs142605807 RCV005930869
Thyroid cancer, nonmedullary, 1 Likely benign rs758981146 RCV005937515
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35810236
Anophthalmia with pulmonary hypoplasia Associate 32439850
Astrocytoma Stimulate 23638004
Breast Neoplasms Associate 20211017, 20497617, 25497280, 28351365
Carcinogenesis Associate 20334636
Carcinoma Hepatocellular Associate 26863619, 31223275, 35783358, 39596041
Carcinoma Non Small Cell Lung Stimulate 31115012
Carcinoma Non Small Cell Lung Associate 32059076
Carcinoma Renal Cell Associate 31746384, 38179741
Colorectal Neoplasms Associate 33114545