Human Gene HJURP (uc002vvg.3)
  Description: Homo sapiens Holliday junction recognition protein (HJURP), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:234,745,486-234,763,212 Size: 17,727 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr2:234,746,223-234,763,146 Size: 16,924 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:234,745,486-234,763,212)mRNA (may differ from genome)Protein (748 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HJURP_HUMAN
DESCRIPTION: RecName: Full=Holliday junction recognition protein; AltName: Full=14-3-3-associated AKT substrate; AltName: Full=Fetal liver-expressing gene 1 protein; AltName: Full=Up-regulated in lung cancer 9;
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 into nucleosomes at replicated centromeres. Prevents CENPA-H4 tetramerization and prevents premature DNA binding by the CENPA-H4 tetramer. Directly binds Holliday junctions.
SUBUNIT: Interacts with CENPA (via CATD domain); the interaction is direct and specific for CENPA since it does not interact with H3.1- or H3.3-containing nucleosomes. Heterotrimer composed of HJURP, CENPA and histone H4, where HJURP interacts with the dimer formed by CENPA and histone H4 and prevents tetramerization of CENPA and H4. Interacts with 14-3-3 family members in a phosphorylation-dependent manner. Interacts with MSH5 and NBN.
INTERACTION: P49450:CENPA; NbExp=14; IntAct=EBI-719429, EBI-1751979;
SUBCELLULAR LOCATION: Nucleus, nucleolus. Chromosome, centromere. Note=Localizes in centromeres during late telophase and early G1, when CENPA nucleosomes are assembled. Localizes to nucleolus during S phase, nucleolus site being often related to storage.
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 level in thymus and bone marrow. Significantly overexpressed in many lung cancer samples, compared with normal lung.
SEQUENCE CAUTION: Sequence=CAB82391.2; Type=Erroneous termination; Positions=437; Note=Translated as Arg;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HJURP
Diseases sorted by gene-association score: fibrillary astrocytoma (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.10 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 49.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.6066-0.297 Picture PostScript Text
3' UTR -230.16737-0.312 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018465 - Centromere_Scm3_N
IPR021052 - HJURP
IPR022102 - HJURP_C

Pfam Domains:
PF10384 - Centromere protein Scm3
PF12346 - Holliday junction recognition protein-associated repeat
PF12347 - Holliday junction regulator protein family C-terminal repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3R45 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8NCD3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0042393 histone binding
GO:0042802 identical protein binding

Biological Process:
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0034080 CENP-A containing nucleosome assembly
GO:0043254 regulation of protein complex assembly
GO:0051101 regulation of DNA binding

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK074809 - Homo sapiens cDNA FLJ90328 fis, clone NT2RP2001921.
AK301643 - Homo sapiens cDNA FLJ53517 complete cds.
AL162048 - Homo sapiens mRNA; cDNA DKFZp762E1312 (from clone DKFZp762E1312).
BC001940 - Homo sapiens Holliday junction recognition protein, mRNA (cDNA clone MGC:4103 IMAGE:2820741), complete cds.
AB101211 - Homo sapiens URLC9 mRNA for up-regulated in lung cancer 9, complete cds.
AK303109 - Homo sapiens cDNA FLJ53451 complete cds.
AB162218 - Homo sapiens hFLEG1 mRNA, complete cds.
KJ902816 - Synthetic construct Homo sapiens clone ccsbBroadEn_12210 HJURP gene, encodes complete protein.
CU674944 - Synthetic construct Homo sapiens gateway clone IMAGE:100020309 5' read DKFZp762E1312 mRNA.
JD507326 - Sequence 488350 from Patent EP1572962.
JD463171 - Sequence 444195 from Patent EP1572962.
JD213206 - Sequence 194230 from Patent EP1572962.
JD341576 - Sequence 322600 from Patent EP1572962.
JD241955 - Sequence 222979 from Patent EP1572962.
JD146220 - Sequence 127244 from Patent EP1572962.
JD525384 - Sequence 506408 from Patent EP1572962.
JD165760 - Sequence 146784 from Patent EP1572962.
JD108532 - Sequence 89556 from Patent EP1572962.
JD068306 - Sequence 49330 from Patent EP1572962.
JD087836 - Sequence 68860 from Patent EP1572962.
JD351410 - Sequence 332434 from Patent EP1572962.
JD288395 - Sequence 269419 from Patent EP1572962.
JD163098 - Sequence 144122 from Patent EP1572962.
JD071528 - Sequence 52552 from Patent EP1572962.
JD117376 - Sequence 98400 from Patent EP1572962.
JD135461 - Sequence 116485 from Patent EP1572962.
JD427153 - Sequence 408177 from Patent EP1572962.
JD510535 - Sequence 491559 from Patent EP1572962.
JD142949 - Sequence 123973 from Patent EP1572962.
JD162828 - Sequence 143852 from Patent EP1572962.
JD084011 - Sequence 65035 from Patent EP1572962.
JD278211 - Sequence 259235 from Patent EP1572962.
JD310850 - Sequence 291874 from Patent EP1572962.
JD394498 - Sequence 375522 from Patent EP1572962.
JD439179 - Sequence 420203 from Patent EP1572962.
JD144235 - Sequence 125259 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NCD3 (Reactome details) participates in the following event(s):

R-HSA-606326 HJURP:CENPA complex localizes to the centromere
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-774815 Nucleosome assembly
R-HSA-73886 Chromosome Maintenance
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8IRH5, B4DWR0, B4DZV4, FAKTS, FLEG1, HJURP_HUMAN, NM_018410, NP_060880, Q8NCD3, Q9BUT2, Q9NSL8, URLC9
UCSC ID: uc002vvg.3
RefSeq Accession: NM_018410
Protein: Q8NCD3 (aka HJURP_HUMAN)
CCDS: CCDS33406.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018410.3
exon count: 9CDS single in 3' UTR: no RNA size: 3065
ORF size: 2247CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4587.50frame shift in genome: no % Coverage: 99.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.