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

Gene ID: 10403, updated on 22-Sep-2022

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; AllianceGenome:HGNC:16909
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
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Genomic context

See NDC80 in Genome Data Viewer
Location:
18p11.32
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (2571557..2616635)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (2727304..2772223)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (2571556..2616634)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene methyltransferase 4, N6-adenosine Neighboring gene small nucleolar RNA U109 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1-like 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cyclin binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables kinetochore adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in G2/MI transition of meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in attachment of mitotic spindle microtubules to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in attachment of mitotic spindle microtubules to kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
involved_in attachment of mitotic spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in attachment of spindle microtubules to kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
involved_in attachment of spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within centrosome duplication IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chromosome segregation IC
Inferred by Curator
more info
PubMed 
involved_in chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in kinetochore organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within metaphase plate congression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
involved_in mitotic sister chromatid segregation TAS
Traceable Author Statement
more info
PubMed 
involved_in mitotic spindle assembly checkpoint signaling IC
Inferred by Curator
more info
PubMed 
involved_in mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein localization to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein stability IEA
Inferred from Electronic Annotation
more info
 
involved_in spindle assembly involved in female meiosis I IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of Ndc80 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of Ndc80 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Ndc80 complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 
located_in chromosome, centromeric region TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
part_of outer kinetochore IDA
Inferred from Direct Assay
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)

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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, Q6PJX2
    UniProtKB/TrEMBL
    A8K031
    Related
    ENSP00000261597.4, ENST00000261597.9
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    2571557..2616635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    2727304..2772223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)