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    NUF2 NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) [ Homo sapiens ]

    Gene ID: 83540, updated on 11-May-2012
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    Summary

    Official Symbol
    NUF2provided by HGNC
    Official Full Name
    NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)provided by HGNC
    Primary source
    HGNC:14621
    See related
    Ensembl:ENSG00000143228; HPRD:10817; MIM:611772; Vega:OTTHUMG00000034275
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDCA1; CT106; NUF2R
    Summary
    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]
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    Genomic context

    Location :
    1q23.3
    Sequence :
    Chromosome: 1; NC_000001.10 (163291723..163325553)
    See NUF2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene tRNA nucleotidyl transferase, CCA-adding, 1 pseudogene Neighboring gene regulator of G-protein signaling 5 Neighboring gene eukaryotic translation initiation factor 3, subunit J pseudogene Neighboring gene nicotinamide nucleotide adenylyltransferase 1 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. The NDC80 complex proteins Nuf2 and Hec1 make distinct contributions to kinetochore-microtubule attachment in mitosis. Sundin LJ, et al. Mol Biol Cell, 2011 Mar 15. PMID 21270439.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Centrosome-related genes, genetic variation, and risk of breast cancer. Olson JE, et al. Breast Cancer Res Treat, 2011 Jan. PMID 20508983.
    5. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068.

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. These data suggest that the CH and tail domains of Hec1 generate essential contacts between kinetochores and microtubules in cells, whereas the Nuf2 CH domain does not.
      Title: The NDC80 complex proteins Nuf2 and Hec1 make distinct contributions to kinetochore-microtubule attachment in mitosis.
    2. cell growths of colorectal and gastric cancers after the siRNA-mediated knockdown of either CDCA1 or KNTC2 were significantly suppressed.
      Title: siRNA-mediated knockdown against CDCA1 and KNTC2, both frequently overexpressed in colorectal and gastric cancers, suppresses cell proliferation and induces apoptosis.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
    4. Chromosome congression in HSET + hNuf2 co-depleted cells required the plus-end directed motor CENP-E , which has been implicated in the gliding of mono-oriented kinetochores alongside adjacent K-fibres.
      Title: Chromosome congression in the absence of kinetochore fibres.
    5. alternative splicing variants, M-RIP, HYAL2, CDCA1, and MSMB genes showed differential expressions between cancer cells and corresponding normal tissues.
      Title: Cancer-associated splicing variants of the CDCA1 and MSMB genes expressed in cancer cell lines and surgically resected gastric cancer tissues.
    6. CDCA1 may therefore be an ideal tumor-associated antigen useful for the diagnosis and immunotherapy of these cancer
      Title: HLA-A2-restricted CTL epitopes of a novel lung cancer-associated cancer testis antigen, cell division cycle associated 1, can induce tumor-reactive CTL.
    7. HsNUF2 and CENP-E are required for organization of stable microtubule-kinetochore attachment that is essential for faithful chromosome segregation in mitosis
      Title: Human NUF2 interacts with centromere-associated protein E and is essential for a stable spindle microtubule-kinetochore attachment.
    8. the Spc24, Spc25, Nuf2, and Ndc80/Hec1 complex is a faithful copy of the endogenous Ndc80 complex
      Title: Architecture of the human ndc80-hec1 complex, a critical constituent of the outer kinetochore.
    9. NUF2 is a core component of the kinetochore outer plate essential for organizing microtubule attachment sites.
      Title: Hec1 and nuf2 are core components of the kinetochore outer plate essential for organizing microtubule attachment sites.
    10. Data highlight a specific role for hNuf2 in kinetochore-microtubule attachment and suggest that hNuf2 is part of a molecular linker between the kinetochore attachment site and tubulin subunits within the lattice of attached plus ends.
      Title: hNuf2 inhibition blocks stable kinetochore-microtubule attachment and induces mitotic cell death in HeLa cells.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9BZD4 P18847 ATF3    HPRD  PubMed  
    Q9BZD4 O14965 AURKA    HPRD  PubMed  
    Q9BZD4 Q96GD4 AURKB    HPRD  PubMed  
    Q9BZD4 O14777 NDC80    HPRD  PubMed  
    BioGRID:123673 BioGRID:107164 BUB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:198404 Bub1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:198405 Bub1b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:107491 CENPE    BioGRID  PubMed Two-hybrid 
    BioGRID:123673 BioGRID:218139 Casc5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:114096 DGKE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:123857 DTNBP1    BioGRID  PubMed Two-hybrid 
    BioGRID:123673 BioGRID:120881 EXOC1    BioGRID  PubMed Two-hybrid 
    BioGRID:123673 BioGRID:122474 MIS12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:211970 Mis12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:115675 NDC80    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:211904 Ndc80    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:116303 ZWINT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123673 BioGRID:206739 Zwint    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic M-M/G1 phases, organism-specific biosystem (from REACTOME)
      Mitotic M-M/G1 phases, organism-specific biosystem
      Mitotic M-M/G1 phases
    • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
      Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    M phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    chromosome segregation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    mitotic prometaphase TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Ndc80 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    chromosome, centromeric region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    condensed chromosome kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    kinetochore protein Nuf2
    Names
    kinetochore protein Nuf2
    hNuf2
    hNuf2R
    hsNuf2
    cancer/testis antigen 106
    cell division cycle associated 1
    cell division cycle-associated protein 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_031423.3 → NP_113611.2  kinetochore protein Nuf2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL592435, BC008489
      Consensus CDS
      CCDS1245.1
      UniProtKB/Swiss-Prot
      Q9BZD4
      Related
      ENSP00000356875, OTTHUMP00000032178, ENST00000367900, OTTHUMT00000082813
      Conserved Domains (2) summary
      TIGR02169
      Location:165 – 457
      Blast Score: 137
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam03800
      Location:1 – 148
      Blast Score: 425
      Nuf2; Nuf2 family

    2. NM_145697.2 → NP_663735.2  kinetochore protein Nuf2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK093348, AL592435
      Consensus CDS
      CCDS1245.1
      UniProtKB/Swiss-Prot
      Q9BZD4
      Related
      ENSP00000271452, OTTHUMP00000032177, ENST00000271452, OTTHUMT00000082812
      Conserved Domains (2) summary
      TIGR02169
      Location:165 – 457
      Blast Score: 137
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam03800
      Location:1 – 148
      Blast Score: 425
      Nuf2; Nuf2 family

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      163291723..163325553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      134537062..134570886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL592435.2 CAI16704.1
      CAI16705.1
      CAI16706.1
    genomic CH471067.1 EAW90735.1
      EAW90736.1
      EAW90737.1
    mRNA AB050577.1 BAB59141.1
    mRNA AB050578.1 BAB59142.1
    mRNA AF326731.1 AAK01426.1
    mRNA AK093348.1 BAC04140.1
    mRNA BC008489.1 AAH08489.1
    mRNA BC021171.2 AAH21171.2
    mRNA BI545465.1 None
    other-genetic DQ893170.2 ABM84096.1
    other-genetic DQ896469.2 ABM87468.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZD4.2 GenPept UniProtKB/Swiss-Prot:Q9BZD4
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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