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NUF2 NUF2 component of NDC80 kinetochore complex [ Homo sapiens (human) ]

Gene ID: 83540, updated on 17-Jun-2019

Summary

Official Symbol
NUF2provided by HGNC
Official Full Name
NUF2 component of NDC80 kinetochore complexprovided by HGNC
Primary source
HGNC:HGNC:14621
See related
Ensembl:ENSG00000143228 MIM:611772
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]
Expression
Biased expression in testis (RPKM 23.0), bone marrow (RPKM 9.4) and 11 other tissues See more
Orthologs

Genomic context

See NUF2 in Genome Data Viewer
Location:
1q23.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (163321948..163355764)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (163291723..163325553)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928404 Neighboring gene regulator of G protein signaling 5 Neighboring gene tRNA nucleotidyl transferase 1 pseudogene Neighboring gene eukaryotic translation initiation factor 3 subunit J pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 62

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
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
NHGRI GWA Catalog

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...
  • 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...
  • 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

Markers

Homology

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 
protein-containing complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
attachment of mitotic spindle microtubules to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation NAS
Non-traceable Author Statement
more info
PubMed 
kinetochore organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic spindle organization IBA
Inferred from Biological aspect of Ancestor
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 
chromosome, centromeric region NAS
Non-traceable Author Statement
more info
PubMed 
condensed nuclear chromosome kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kinetochore protein Nuf2
Names
NDC80 kinetochore complex component NUF2
NUF2, NDC80 kinetochore complex component, homolog
cancer/testis antigen 106
cell division cycle associated 1
cell division cycle-associated protein 1
hNuf2
hNuf2R
hsNuf2

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_031423.4NP_113611.2  kinetochore protein Nuf2

    See identical proteins and their annotated locations for NP_113611.2

    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
    ENSP00000356875.3, ENST00000367900.7
    Conserved Domains (2) summary
    pfam03800
    Location:3145
    Nuf2; Nuf2 family
    cl25732
    Location:165457
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_145697.3NP_663735.2  kinetochore protein Nuf2

    See identical proteins and their annotated locations for NP_663735.2

    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
    ENSP00000271452.3, ENST00000271452.8
    Conserved Domains (2) summary
    pfam03800
    Location:3145
    Nuf2; Nuf2 family
    cl25732
    Location:165457
    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.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    163321948..163355764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510036.1XP_011508338.1  kinetochore protein Nuf2 isoform X2

    Conserved Domains (1) summary
    pfam03800
    Location:1100
    Nuf2; Nuf2 family
  2. XM_024450113.1XP_024305881.1  kinetochore protein Nuf2 isoform X1

    Conserved Domains (2) summary
    pfam03800
    Location:3145
    Nuf2; Nuf2 family
    cl25732
    Location:165457
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_024450112.1XP_024305880.1  kinetochore protein Nuf2 isoform X1

    Conserved Domains (2) summary
    pfam03800
    Location:3145
    Nuf2; Nuf2 family
    cl25732
    Location:165457
    SMC_N; RecF/RecN/SMC N terminal domain
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