Human Gene NDC80 (uc002kli.3)
  Description: Homo sapiens NDC80 kinetochore complex component (NDC80), mRNA.
RefSeq Summary (NM_006101): This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011].
Transcript (Including UTRs)
   Position: hg19 chr18:2,571,510-2,616,634 Size: 45,125 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr18:2,572,985-2,616,573 Size: 43,589 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:2,571,510-2,616,634)mRNA (may differ from genome)Protein (642 aa)
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-  Comments and Description Text from UniProtKB
  ID: NDC80_HUMAN
DESCRIPTION: RecName: Full=Kinetochore protein NDC80 homolog; AltName: Full=Highly expressed in cancer protein; AltName: Full=Kinetochore protein Hec1; Short=HsHec1; AltName: Full=Kinetochore-associated protein 2; AltName: Full=Retinoblastoma-associated protein HEC;
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. Interacts with isoform 1 of NEK2 and ZWINT specifically during mitosis. Interacts with CENPH and MIS12. May interact with AURKB, PSMC2, PSMC5 and SMC1A. May interact with RB1 during G2 phase and mitosis.
INTERACTION: Q9H3R5:CENPH; NbExp=3; IntAct=EBI-715849, EBI-1003700; Q9BZD4:NUF2; NbExp=10; IntAct=EBI-715849, EBI-724102; Q9HBM1:SPC25; NbExp=9; IntAct=EBI-715849, EBI-999909; O95229:ZWINT; NbExp=11; IntAct=EBI-715849, EBI-1001132;
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores from late prophase to anaphase. Localizes specifically to the outer plate of the kinetochore.
DEVELOPMENTAL STAGE: Expression peaks in mitosis.
PTM: Phosphorylation begins in S phase of the cell cycle and peaks in mitosis. Phosphorylated by NEK2. May also be phosphorylated by AURKA and AURKB.
SIMILARITY: Belongs to the NDC80/HEC1 family.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NDC80
CDC HuGE Published Literature: NDC80

-  MalaCards Disease Associations
  MalaCards Gene Search: NDC80
Diseases sorted by gene-association score: female reproductive organ cancer (1)

-  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: 14.76 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 46.42 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 -60.90182-0.335 Picture PostScript Text
3' UTR -5.2061-0.085 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
IPR005550 - Kinetochore_Ndc80

Pfam Domains:
PF03801 - HEC/Ndc80p family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2IGP - X-ray MuPIT 2VE7 - X-ray MuPIT 3IZ0 - EM MuPIT


ModBase Predicted Comparative 3D Structure on O14777
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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
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
Gene SorterGene Sorter  Gene SorterGene Sorter
 RGDEnsembl WormBaseSGD
 Protein SequenceProtein Sequence Protein SequenceProtein Sequence
 AlignmentAlignment AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0000070 mitotic sister chromatid segregation
GO:0000132 establishment of mitotic spindle orientation
GO:0000278 mitotic cell cycle
GO:0007049 cell cycle
GO:0007052 mitotic spindle organization
GO:0007059 chromosome segregation
GO:0008608 attachment of spindle microtubules to kinetochore
GO:0051301 cell division
GO:0051310 metaphase plate congression
GO:0051315 attachment of mitotic spindle microtubules to kinetochore
GO:0051383 kinetochore organization
GO:0090267 positive regulation of mitotic cell cycle spindle assembly checkpoint
GO:1905342 positive regulation of protein localization to kinetochore

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0000942 condensed nuclear chromosome outer kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005813 centrosome
GO:0005829 cytosol
GO:0016020 membrane
GO:0031262 Ndc80 complex


-  Descriptions from all associated GenBank mRNAs
  BC005239 - Homo sapiens NDC80 homolog, kinetochore complex component (S. cerevisiae), mRNA (cDNA clone IMAGE:3997364), partial cds.
AK289396 - Homo sapiens cDNA FLJ77925 complete cds, highly similar to Homo sapiens kinetochore associated 2, mRNA.
AK313184 - Homo sapiens cDNA, FLJ93683, Homo sapiens kinetochore associated 2 (KNTC2), mRNA.
BC035617 - Homo sapiens NDC80 homolog, kinetochore complex component (S. cerevisiae), mRNA (cDNA clone MGC:45222 IMAGE:5164424), complete cds.
BC010171 - Homo sapiens NDC80 homolog, kinetochore complex component (S. cerevisiae), mRNA (cDNA clone IMAGE:3677694).
AF017790 - Homo sapiens retinoblastoma-associated protein HEC mRNA, complete cds.
CU690134 - Synthetic construct Homo sapiens gateway clone IMAGE:100019974 5' read NDC80 mRNA.
KJ893026 - Synthetic construct Homo sapiens clone ccsbBroadEn_02420 NDC80 gene, encodes complete protein.
AB529174 - Synthetic construct DNA, clone: pF1KB6154, Homo sapiens KNTC2 gene for NDC80 homolog, kinetochore complex component, without stop codon, in Flexi system.
DQ890765 - Synthetic construct clone IMAGE:100003395; FLH165777.01X; RZPDo839G07160D kinetochore associated 2 (KNTC2) gene, encodes complete protein.
DQ893928 - Synthetic construct Homo sapiens clone IMAGE:100008388; FLH165773.01L; RZPDo839G07159D kinetochore associated 2 (KNTC2) gene, encodes complete protein.

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

Protein O14777 (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: HEC, HEC1, KNTC2, NDC80_HUMAN, NM_006101, NP_006092, O14777, Q6PJX2
UCSC ID: uc002kli.3
RefSeq Accession: NM_006101
Protein: O14777 (aka NDC80_HUMAN)
CCDS: CCDS11827.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006101.2
exon count: 17CDS single in 3' UTR: no RNA size: 2209
ORF size: 1929CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3895.00frame shift in genome: no % Coverage: 98.32
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.