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NDC80 NDC80, kinetochore complex component [ Homo sapiens (human) ]

Gene ID: 10403, updated on 13-Jan-2019

Summary

Official Symbol
NDC80provided by HGNC
Official Full Name
NDC80, kinetochore complex componentprovided by HGNC
Primary source
HGNC:HGNC:16909
See related
Ensembl:ENSG00000080986 MIM:607272
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEC; HEC1; TID3; KNTC2; HsHec1; hsNDC80
Summary
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]
Expression
Broad expression in testis (RPKM 8.6), lymph node (RPKM 8.5) and 16 other tissues See more
Orthologs

Genomic context

See NDC80 in Genome Data Viewer
Location:
18p11.32
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (2571511..2616635)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (2571510..2616634)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371961 Neighboring gene methyltransferase like 4 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1 pseudogene Neighboring gene katanin regulatory subunit B1 like 1 pseudogene 3 Neighboring gene RNA, U6 small nuclear 340, pseudogene Neighboring gene chromobox 3 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog

Pathways from BioSystems

  • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
    Aurora B signaling, organism-specific biosystem
    Aurora B signaling
  • 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...
  • 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 Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • 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 th...
  • PLK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    PLK1 signaling events, organism-specific biosystem
    PLK1 signaling events
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Ndc80 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ndc80 complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
chromosome, centromeric region TAS
Traceable Author Statement
more info
PubMed 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
condensed nuclear chromosome outer kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
kinetochore protein NDC80 homolog
Names
NDC80 homolog, kinetochore complex component
NDC80 kinetochore complex component homolog
highly expressed in cancer protein
highly expressed in cancer, rich in leucine heptad repeats
kinetochore associated 2
kinetochore protein Hec1
kinetochore-associated protein 2
retinoblastoma-associated protein HEC

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_006101.3NP_006092.1  kinetochore protein NDC80 homolog

    See identical proteins and their annotated locations for NP_006092.1

    Status: VALIDATED

    Source sequence(s)
    AP005136, BC035617
    Consensus CDS
    CCDS11827.1
    UniProtKB/Swiss-Prot
    O14777
    UniProtKB/TrEMBL
    A8K031
    Related
    ENSP00000261597.4, ENST00000261597.8
    Conserved Domains (2) summary
    pfam03801
    Location:51206
    Ndc80_HEC; HEC/Ndc80p family
    cl25732
    Location:238633
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    2571511..2616635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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