Human Gene NUF2 (ENST00000367900.7) Description and Page Index
  Description: Homo sapiens NUF2 component of NDC80 kinetochore complex (NUF2), transcript variant 2, mRNA. (from RefSeq NM_031423)
RefSeq Summary (NM_031423): This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000367900.7
Gencode Gene: ENSG00000143228.13
Transcript (Including UTRs)
   Position: hg38 chr1:163,321,935-163,355,764 Size: 33,830 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr1:163,326,052-163,355,469 Size: 29,418 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:163,321,935-163,355,764)mRNA (may differ from genome)Protein (464 aa)
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PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NUF2_HUMAN
DESCRIPTION: RecName: Full=Kinetochore protein Nuf2; Short=hNuf2; Short=hNuf2R; Short=hsNuf2; AltName: Full=Cell division cycle-associated protein 1;
FUNCTION: Acts as a component of the essential kinetochore- associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore.
SUBUNIT: Component of the NDC80 complex, which consists of NDC80/HEC1, CDCA1, SPBC24 and SPBC25. The NDC80 complex is formed by two subcomplexes composed of NDC80/HEC1-CDCA1 and SPBC24- SPBC25. Each subcomplex is formed by parallel interactions through the coiled-coil domains of individual subunits. Formation of a tetrameric complex is mediated by interactions between the C- terminal regions of both subunits of the NDC80/HEC1-CDCA1 subcomplex and the N-terminal regions of both subunits of the SPBC24-SPBC25 complex. The tetrameric NDC80 complex has an elongated rod-like structure with globular domains at either end. May interact with AURKB/Aurora-B. Directly interacts with CENPE; this interaction determines CENPE kinetochore localization.
INTERACTION: Q02224:CENPE; NbExp=9; IntAct=EBI-724102, EBI-1375040; O14777:NDC80; NbExp=10; IntAct=EBI-724102, EBI-715849;
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores from late prophase to anaphase. Localizes specifically to the outer plate of the kinetochore. NDC80 is required for efficient kinetochore localization.
PTM: Can be phosphorylated by AURKA and AURKB.
SIMILARITY: Belongs to the NUF2 family.

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.68 RPKM in Testis
Total median expression: 57.77 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 -46.70152-0.307 Picture PostScript Text
3' UTR -41.10295-0.139 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
IPR005549 - Kinetochore_Nuf2

Pfam Domains:
PF03800 - Nuf2 family

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

2VE7
- X-ray MuPIT

3IZ0
- EM MuPIT


ModBase Predicted Comparative 3D Structure on Q9BZD4
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005829 cytosol
GO:0016020 membrane
GO:0031262 Ndc80 complex


-  Descriptions from all associated GenBank mRNAs
  AK093348 - Homo sapiens cDNA FLJ36029 fis, clone TESTI2016950.
AX748068 - Sequence 1593 from Patent EP1308459.
AF326731 - Homo sapiens NUF2R mRNA, complete cds.
BC008489 - Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae), mRNA (cDNA clone MGC:14815 IMAGE:4134468), complete cds.
JD167469 - Sequence 148493 from Patent EP1572962.
AB050577 - Homo sapiens NUF2 mRNA for kinetochore protein Nuf2, complete cds.
JD183271 - Sequence 164295 from Patent EP1572962.
CU678981 - Synthetic construct Homo sapiens gateway clone IMAGE:100019523 5' read NUF2 mRNA.
DQ893170 - Synthetic construct clone IMAGE:100005800; FLH194599.01X; RZPDo839D0180D cell division cycle associated 1 (CDCA1) gene, encodes complete protein.
DQ896469 - Synthetic construct Homo sapiens clone IMAGE:100010929; FLH194595.01L; RZPDo839D0170D cell division cycle associated 1 (CDCA1) gene, encodes complete protein.
KJ894881 - Synthetic construct Homo sapiens clone ccsbBroadEn_04275 NUF2 gene, encodes complete protein.
BC021171 - Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3930761), partial cds.
AB050578 - Homo sapiens NUF2 mRNA for kinetochore protein Nuf2, partial cds.
JD313998 - Sequence 295022 from Patent EP1572962.

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

Protein Q9BZD4 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: CDCA1, NM_031423, NUF2R, NUF2_HUMAN, Q8WU69, Q96HJ4, Q96Q78, Q9BZD4, uc001gcr.1, uc001gcr.2
UCSC ID: uc001gcr.2
RefSeq Accession: NM_031423
Protein: Q9BZD4 (aka NUF2_HUMAN)
CCDS: CCDS1245.1

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