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Protein

Holliday junction recognition protein

Gene

HJURP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • histone binding Source: UniProtKB
  • identical protein binding Source: IntAct

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • CENP-A containing nucleosome assembly Source: UniProtKB
  • chromosome segregation Source: UniProtKB
  • regulation of DNA binding Source: UniProtKB
  • regulation of protein complex assembly Source: UniProtKB

Keywordsi

Molecular functionChaperone, DNA-binding
Biological processCell cycle

Enzyme and pathway databases

ReactomeiR-HSA-606279. Deposition of new CENPA-containing nucleosomes at the centromere.

Names & Taxonomyi

Protein namesi
Recommended name:
Holliday junction recognition protein
Alternative name(s):
14-3-3-associated AKT substrate
Fetal liver-expressing gene 1 protein
Up-regulated in lung cancer 9
Gene namesi
Name:HJURP
Synonyms:FAKTS, FLEG1Imported, URLC9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:25444. HJURP.

Subcellular locationi

  • Nucleusnucleolus
  • Chromosomecentromere

  • 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.

GO - Cellular componenti

  • chromosome, centromeric region Source: UniProtKB
  • condensed chromosome kinetochore Source: UniProtKB
  • cytosol Source: HPA
  • mitochondrion Source: HPA
  • nucleolus Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: HPA

Keywords - Cellular componenti

Centromere, Chromosome, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi486S → A: Loss of phosphorylation by AKT1 and binding to YWHAG. 1 Publication1

Organism-specific databases

DisGeNETi55355.
OpenTargetsiENSG00000123485.
PharmGKBiPA162390937.

Polymorphism and mutation databases

BioMutaiHJURP.
DMDMi239938642.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002874331 – 748Holliday junction recognition proteinAdd BLAST748

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei123PhosphoserineCombined sources1
Modified residuei140PhosphoserineCombined sources1
Modified residuei185PhosphoserineCombined sources1
Modified residuei201PhosphoserineCombined sources1
Modified residuei211PhosphoserineCombined sources1
Modified residuei412PhosphoserineBy similarity1
Modified residuei448PhosphoserineCombined sources1
Modified residuei473PhosphoserineCombined sources1
Modified residuei486Phosphoserine; by PKB/AKT1Combined sources1 Publication1
Modified residuei496PhosphoserineCombined sources1
Modified residuei595PhosphoserineCombined sources1
Modified residuei642PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NCD3.
MaxQBiQ8NCD3.
PaxDbiQ8NCD3.
PeptideAtlasiQ8NCD3.
PRIDEiQ8NCD3.

PTM databases

iPTMnetiQ8NCD3.
PhosphoSitePlusiQ8NCD3.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000123485.
CleanExiHS_HJURP.
ExpressionAtlasiQ8NCD3. baseline and differential.
GenevisibleiQ8NCD3. HS.

Organism-specific databases

HPAiHPA008436.
HPA027261.

Interactioni

Subunit structurei

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 (PubMed:16622419, PubMed:19410544, PubMed:19410545). 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 (PubMed:21478274). Identified in a centromere complex containing histones H2A, H2B and H4, and at least CENPA, CENPB, CENPC, CENPT, CENPN, HJURP, SUPT16H, SSRP1 and RSF1 (PubMed:27499292). Interacts with 14-3-3 family members in a phosphorylation-dependent manner (PubMed:17256767). Interacts with MSH5 and NBN (PubMed:17823411).7 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • histone binding Source: UniProtKB
  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi120635. 23 interactors.
DIPiDIP-53282N.
IntActiQ8NCD3. 10 interactors.
MINTiMINT-1402926.
STRINGi9606.ENSP00000414109.

Structurei

Secondary structure

1748
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi16 – 40Combined sources25
Beta strandi49 – 51Combined sources3
Turni52 – 55Combined sources4
Beta strandi56 – 59Combined sources4
Beta strandi62 – 65Combined sources4
Beta strandi70 – 73Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3R45X-ray2.60C1-80[»]
ProteinModelPortaliQ8NCD3.
SMRiQ8NCD3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IW66. Eukaryota.
ENOG4111C4D. LUCA.
GeneTreeiENSGT00390000005575.
HOGENOMiHOG000112909.
HOVERGENiHBG062573.
InParanoidiQ8NCD3.
OMAiYAGMLHS.
OrthoDBiEOG091G071S.
PhylomeDBiQ8NCD3.
TreeFamiTF336293.

Family and domain databases

InterProiView protein in InterPro
IPR021052. HJURP.
IPR022102. HJURP_C.
IPR018465. Scm3/HJURP.
PfamiView protein in Pfam
PF12347. HJURP_C. 2 hits.
PF12346. HJURP_mid. 1 hit.
PF10384. Scm3. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NCD3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLGTLRAMEG EDVEDDQLLQ KLRASRRRFQ RRMQRLIEKY NQPFEDTPVV
60 70 80 90 100
QMATLTYETP QGLRIWGGRL IKERNEGEIQ DSSMKPADRT DGSVQAAAWG
110 120 130 140 150
PELPSHRTVL GADSKSGEVD ATSDQEESVA WALAPAVPQS PLKNELRRKY
160 170 180 190 200
LTQVDILLQG AEYFECAGNR AGRDVRVTPL PSLASPAVPA PGYCSRISRK
210 220 230 240 250
SPGDPAKPAS SPREWDPLHP SSTDMALVPR NDSLSLQETS SSSFLSSQPF
260 270 280 290 300
EDDDICNVTI SDLYAGMLHS MSRLLSTKPS SIISTKTFIM QNWNSRRRHR
310 320 330 340 350
YKSRMNKTYC KGARRSQRSS KENFIPCSEP VKGTGALRDC KNVLDVSCRK
360 370 380 390 400
TGLKLEKAFL EVNRPQIHKL DPSWKERKVT PSKYSSLIYF DSSATYNLDE
410 420 430 440 450
ENRFRTLKWL ISPVKIVSRP TIRQGHGENR QREIEIRFDQ LHREYCLSPR
460 470 480 490 500
NQPRRMCLPD SWAMNMYRGG PASPGGLQGL ETRRLSLPSS KAKAKSLSEA
510 520 530 540 550
FENLGKRSLE AGRCLPKSDS SSSLPKTNPT HSATRPQQTS DLHVQGNSSG
560 570 580 590 600
IFRKSVSPSK TLSVPDKEVP GHGRNRYDEI KEEFDKLHQK YCLKSPGQMT
610 620 630 640 650
VPLCIGVSTD KASMEVRYQT EGFLGKLNPD PHFQGFQKLP SSPLGCRKSL
660 670 680 690 700
LGSTAIEAPS STCVARAITR DGTRDHQFPA KRPRLSEPQG SGRQGNSLGA
710 720 730 740
SDGVDNTVRP GDQGSSSQPN SEERGENTSY RMEEKSDFML EKLETKSV
Length:748
Mass (Da):83,539
Last modified:June 16, 2009 - v2
Checksum:iDE7F1410F9A748D5
GO
Isoform 2 (identifier: Q8NCD3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-134: Missing.

Note: No experimental confirmation available.
Show »
Length:694
Mass (Da):77,971
Checksum:iCF6B285E45EDACC0
GO
Isoform 3 (identifier: Q8NCD3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-165: Missing.

Note: No experimental confirmation available.
Show »
Length:663
Mass (Da):74,372
Checksum:i714B1621C5107AC6
GO

Sequence cautioni

The sequence CAB82391 differs from that shown. Reason: Erroneous termination at position 437. Translated as Arg.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti613S → C in BAG63122 (PubMed:14702039).Curated1
Sequence conflicti733E → G in BAG63122 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0569124T → A. Corresponds to variant dbSNP:rs2302154Ensembl.1
Natural variantiVAR_05794676E → K4 PublicationsCorresponds to variant dbSNP:rs2286430Ensembl.1
Natural variantiVAR_057947199R → GCombined sources3 PublicationsCorresponds to variant dbSNP:rs3806589Ensembl.1
Natural variantiVAR_057948295S → C4 PublicationsCorresponds to variant dbSNP:rs3732215Ensembl.1
Natural variantiVAR_056913548S → T. Corresponds to variant dbSNP:rs17863822Ensembl.1
Natural variantiVAR_056914549S → C1 PublicationCorresponds to variant dbSNP:rs3821238Ensembl.1
Natural variantiVAR_056915568E → D. Corresponds to variant dbSNP:rs3771333Ensembl.1
Natural variantiVAR_056916691S → F1 PublicationCorresponds to variant dbSNP:rs12582Ensembl.1
Natural variantiVAR_057949723E → G1 PublicationCorresponds to variant dbSNP:rs10511Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03746781 – 165Missing in isoform 3. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_03746881 – 134Missing in isoform 2. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB101211 mRNA. Translation: BAF82039.1.
AB162218 mRNA. Translation: BAD36741.1.
AK301643 mRNA. Translation: BAG63122.1.
AK303109 mRNA. Translation: BAG64216.1.
AK074809 mRNA. Translation: BAC11221.1.
AC005538 Genomic DNA. No translation available.
BC001940 mRNA. Translation: AAH01940.2.
AL162048 mRNA. Translation: CAB82391.2. Sequence problems.
CCDSiCCDS33406.1. [Q8NCD3-1]
CCDS63166.1. [Q8NCD3-3]
CCDS63167.1. [Q8NCD3-2]
PIRiT47163.
RefSeqiNP_001269891.1. NM_001282962.1. [Q8NCD3-2]
NP_001269892.1. NM_001282963.1. [Q8NCD3-3]
NP_060880.3. NM_018410.4. [Q8NCD3-1]
UniGeneiHs.532968.

Genome annotation databases

EnsembliENST00000411486; ENSP00000414109; ENSG00000123485. [Q8NCD3-1]
ENST00000432087; ENSP00000407208; ENSG00000123485. [Q8NCD3-2]
ENST00000441687; ENSP00000401944; ENSG00000123485. [Q8NCD3-3]
GeneIDi55355.
KEGGihsa:55355.
UCSCiuc002vvg.5. human. [Q8NCD3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiHJURP_HUMAN
AccessioniPrimary (citable) accession number: Q8NCD3
Secondary accession number(s): A8IRH5
, B4DWR0, B4DZV4, Q9BUT2, Q9NSL8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: June 16, 2009
Last modified: March 15, 2017
This is version 118 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references