KNTC1 Gene (Protein Coding)

Kinetochore Associated 1

GC12P122527
GIFtS:
35
This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008] See more...

Aliases for KNTC1 Gene

Aliases for KNTC1 Gene

  • Kinetochore Associated 1 2 3 5
  • Kinetochore-Associated Protein 1 3 4
  • KIAA0166 2 4
  • ROD 2 3
  • Rough Deal Homolog, Centromere/Kinetochore Protein 3
  • Rough Deal Homolog (Drosophila) 2
  • Rough Deal Homolog 4
  • KNTC1 5
  • HsROD 4
  • HRod 4
  • Rod 4

External Ids for KNTC1 Gene

Previous GeneCards Identifiers for KNTC1 Gene

  • GC12M121730
  • GC12U900005
  • GC12P122820
  • GC12P121450
  • GC12P121451
  • GC12P121536
  • GC12P121577
  • GC12P123011
  • GC12P119972

Summaries for KNTC1 Gene

Entrez Gene Summary for KNTC1 Gene

  • This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for KNTC1 Gene

KNTC1 (Kinetochore Associated 1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Mitotic Prometaphase.

UniProtKB/Swiss-Prot Summary for KNTC1 Gene

  • Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores (PubMed:11146660, PubMed:11590237, PubMed:15824131). Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex.

Additional gene information for KNTC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KNTC1 Gene

Genomics for KNTC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KNTC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KNTC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KNTC1

Top Transcription factor binding sites by QIAGEN in the KNTC1 gene promoter:
  • c-Myc
  • E4BP4
  • Elk-1
  • HEN1
  • Lmo2
  • Max1
  • NF-kappaB1
  • Pax-4a
  • PPAR-gamma2

Genomic Locations for KNTC1 Gene

Latest Assembly
chr12:122,527,106-122,626,409
(GRCh38/hg38)
Size:
99,304 bases
Orientation:
Plus strand

Previous Assembly
chr12:123,011,796-123,110,943
(GRCh37/hg19 by Entrez Gene)
Size:
99,148 bases
Orientation:
Plus strand

chr12:123,011,793-123,110,943
(GRCh37/hg19 by Ensembl)
Size:
99,151 bases
Orientation:
Plus strand

Genomic View for KNTC1 Gene

Genes around KNTC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KNTC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KNTC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KNTC1 Gene

Proteins for KNTC1 Gene

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  1. Antibodies for research
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  • Protein details for KNTC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50748-KNTC1_HUMAN
    Recommended name:
    Kinetochore-associated protein 1
    Protein Accession:
    P50748
    Secondary Accessions:
    • A7E2C4
    • B3KSG2

    Protein attributes for KNTC1 Gene

    Size:
    2209 amino acids
    Molecular mass:
    250749 Da
    Quaternary structure:
    • Interacts with ZW10; the interaction is required for stable association with the kinetochore. Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH; in the complex interacts directly with ZWILCH.
    SequenceCaution:
    • Sequence=BAA11483.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KNTC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KNTC1 Gene

Protein Expression for KNTC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KNTC1 Gene

  • Ubiquitination at Lys625
  • Modification sites at PhosphoSitePlus

Other Protein References for KNTC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for KNTC1

No data available for DME Specific Peptides for KNTC1 Gene

Domains & Families for KNTC1 Gene

Gene Families for KNTC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KNTC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KNTC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36151 fis, clone TESTI2025365, highly similar to Kinetochore-associated protein 1 (B3KSG2_HUMAN)
  • Rough deal homolog (KNTC1_HUMAN)
genes like me logo Genes that share domains with KNTC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KNTC1 Gene

Function for KNTC1 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for KNTC1 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores (PubMed:11146660, PubMed:11590237, PubMed:15824131). Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex.

Phenotypes From GWAS Catalog for KNTC1 Gene

Gene Ontology (GO) - Molecular Function for KNTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11146660
genes like me logo Genes that share ontologies with KNTC1: view
genes like me logo Genes that share phenotypes with KNTC1: view

Animal Models for KNTC1 Gene

MGI Knock Outs for KNTC1:
  • Kntc1 Kntc1<tm1b(EUCOMM)Hmgu>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KNTC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KNTC1 Gene

Localization for KNTC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KNTC1 Gene

Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Dynamic pattern of localization during the cell cycle. At interphase, uniformly distributed throughout the cytoplasm and nucleus. By prophase and until late stages of prometaphase, a fraction of the total pool is concentrated at kinetochores. By metaphase, detected at kinetochores, along spindle fibers and most prominently at the poles. By late anaphase until the end of telophase, no longer detectable on kinetochores or along spindle fibers, but still present at the spindle poles.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KNTC1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 4
cytosol 4
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KNTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IDA 11146660
GO:0005634 nucleus NAS 11146660
genes like me logo Genes that share ontologies with KNTC1: view

Pathways & Interactions for KNTC1 Gene

genes like me logo Genes that share pathways with KNTC1: view

Pathways by source for KNTC1 Gene

Gene Ontology (GO) - Biological Process for KNTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007094 mitotic spindle assembly checkpoint IDA 11146660
GO:0007096 regulation of exit from mitosis NAS 11146660
GO:0051301 cell division IEA --
GO:0065003 protein-containing complex assembly NAS 11146660
genes like me logo Genes that share ontologies with KNTC1: view

No data available for SIGNOR curated interactions for KNTC1 Gene

Drugs & Compounds for KNTC1 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for KNTC1 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for KNTC1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KNTC1

Alternative Splicing Database (ASD) splice patterns (SP) for KNTC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^
SP1: - -
SP2: -
SP3:
SP4:
SP5: -
SP6: - -
SP7:
SP8: - - - -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for KNTC1 Gene

GeneLoc Exon Structure for
KNTC1

Expression for KNTC1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KNTC1 Gene

mRNA expression in normal human tissues for KNTC1 Gene
mRNA expression by BioGPS for KNTC1 GenemRNA expression by GTEx for KNTC1 Gene

mRNA differential expression in normal tissues according to GTEx for KNTC1 Gene

This gene is overexpressed in Testis (x4.1).

Protein differential expression in normal tissues from HIPED for KNTC1 Gene

This gene is overexpressed in Tlymphocyte (19.1), Blymphocyte (14.3), Neutrophil (11.3), and Breast (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KNTC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KNTC1

SOURCE GeneReport for Unigene cluster for KNTC1 Gene:

Hs.300559

mRNA Expression by UniProt/SwissProt for KNTC1 Gene:

P50748-KNTC1_HUMAN
Tissue specificity: High expression in testis.

Evidence on tissue expression from TISSUES for KNTC1 Gene

  • Bone marrow(4.3)
genes like me logo Genes that share expression patterns with KNTC1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KNTC1 Gene

Orthologs for KNTC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KNTC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KNTC1 30 31
  • 99.65 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KNTC1 30 31
  • 88.69 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KNTC1 30 31
  • 88.64 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Kntc1 30 17 31
  • 81.36 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kntc1 30
  • 79.97 (n)
Oppossum
(Monodelphis domestica)
 Mammalia KNTC1 31
  • 71 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KNTC1 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KNTC1 30 31
  • 67.48 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KNTC1 31
  • 51 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kntc1 30
  • 64.81 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.9622 30
Zebrafish
(Danio rerio)
 Actinopterygii kntc1 30 31
  • 54.66 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta rod 31
  • 17 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea rod-1 31
  • 16 (a)
 OneToOne
Species where no ortholog for KNTC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KNTC1 Gene

ENSEMBL:
Gene Tree for KNTC1 (if available)
TreeFam:
Gene Tree for KNTC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KNTC1: view image

Paralogs for KNTC1 Gene

Pseudogenes.org Pseudogenes for KNTC1 Gene

genes like me logo Genes that share paralogs with KNTC1: view

No data available for Paralogs for KNTC1 Gene

Variants for KNTC1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KNTC1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs772156434 Uncertain Significance: Malignant tumor of prostate 122,626,224(+) C/T
NM_014708.6(KNTC1):c.6626C>T (p.Ser2209Leu) 		MISSENSE
rs11837038 - p.Val2021Gly
rs17883249 - p.Glu738Asp
rs35315099 - p.Thr1506Met
rs7310898 - p.Pro1830Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KNTC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KNTC1 Gene

Variant ID Type Subtype PubMed ID
esv2658251 CNV deletion 23128226
esv2661880 CNV deletion 23128226
esv2761772 CNV gain 21179565
esv3630978 CNV loss 21293372
nsv1041677 CNV gain 25217958
nsv1054458 CNV loss 25217958
nsv826529 CNV gain 20364138
nsv826530 CNV loss 20364138
nsv957298 CNV deletion 24416366

Variation tolerance for KNTC1 Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.97; 87.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KNTC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KNTC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KNTC1 Gene

Disorders for KNTC1 Gene

Additional Disease Information for KNTC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for KNTC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KNTC1 Gene

Publications for KNTC1 Gene

  1. Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. (PMID: 20462495) Civril F … Musacchio A (Structure (London, England : 1993) 2010) 3 4 23
  2. Zwilch, a new component of the ZW10/ROD complex required for kinetochore functions. (PMID: 12686595) Williams BC … Goldberg ML (Molecular biology of the cell 2003) 3 4 23
  3. The ZW10 and Rough Deal checkpoint proteins function together in a large, evolutionarily conserved complex targeted to the kinetochore. (PMID: 11590237) Scaërou F … Goldberg ML (Journal of cell science 2001) 2 3 4
  4. Human Zw10 and ROD are mitotic checkpoint proteins that bind to kinetochores. (PMID: 11146660) Chan GK … Yen TJ (Nature cell biology 2000) 2 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

ExternalLinks

View latest publications for KNTC1 gene in Mastermind

Products for KNTC1 Gene

Sources for KNTC1 Gene