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

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: mouse all
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Genomic context

Location:: 18p11.32

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (2571557..2616635)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (2727304..2772223)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (2571556..2616634)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway.
Title: CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway.
NDC80 Enhances Cisplatin-resistance in Triple-negative Breast Cancer.
Title: NDC80 Enhances Cisplatin-resistance in Triple-negative Breast Cancer.
Chromosome oscillation promotes Aurora A-dependent Hec1 phosphorylation and mitotic fidelity.
Title: Chromosome oscillation promotes Aurora A-dependent Hec1 phosphorylation and mitotic fidelity.
Mps1 dimerization and multisite interactions with Ndc80 complex enable responsive spindle assembly checkpoint signaling.
Title: Mps1 dimerization and multisite interactions with Ndc80 complex enable responsive spindle assembly checkpoint signaling.
Multisite phosphorylation determines the formation of Ska-Ndc80 macro-complexes that are essential for chromosome segregation during mitosis.
Title: Multisite phosphorylation determines the formation of Ska-Ndc80 macro-complexes that are essential for chromosome segregation during mitosis.
The Hec1/Ndc80 tail domain is required for force generation at kinetochores, but is dispensable for kinetochore-microtubule attachment formation and Ska complex recruitment.
Title: The Hec1/Ndc80 tail domain is required for force generation at kinetochores, but is dispensable for kinetochore-microtubule attachment formation and Ska complex recruitment.
Bioinformatic analysis revealing mitotic spindle assembly regulated NDC80 and MAD2L1 as prognostic biomarkers in non-small cell lung cancer development.
Title: Bioinformatic analysis revealing mitotic spindle assembly regulated NDC80 and MAD2L1 as prognostic biomarkers in non-small cell lung cancer development.
Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma.
Title: Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma.
nuclear division cycle 80, cyclin B2 and topoisomerase 2alpha may serve important roles in adrenocortical tumor development.
Title: Expression profiles analysis identifies the values of carcinogenesis and the prognostic prediction of three genes in adrenocortical carcinoma.
High NDC80 expression is associated with colorectal cancer.
Title: Nuclear division cycle 80 promotes malignant progression and predicts clinical outcome in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 microtubule binding	IMP Inferred from Mutant Phenotype 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
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kinetochore organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metaphase chromosome alignment	IDA Inferred from Direct Assay more info	PubMed
involved_in metaphase chromosome alignment	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	NAS Non-traceable Author Statement 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 regulation of protein stability	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle satellite cell proliferation	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
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 kinetochore	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	HDA more info	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

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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.