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Aliases for KNTC1 Gene

Aliases for KNTC1 Gene

  • Kinetochore Associated 1 2 3 5
  • ROD 3 4
  • Rough Deal Homolog, Centromere/Kinetochore Protein 3
  • Kinetochore-Associated Protein 1 3
  • Rough Deal Homolog (Drosophila) 2
  • Rough Deal Homolog 4
  • KIAA0166 4
  • HsROD 4
  • HRod 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. Diseases associated with KNTC1 include Orbital Plasma Cell Granuloma and Histrionic Personality Disorder. Among its related pathways are Mitotic Metaphase and Anaphase and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KNTC1 Gene

Genomics for KNTC1 Gene

Regulatory Elements for KNTC1 Gene

Enhancers for KNTC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F121657 1.2 Ensembl ENCODE 59.2 -868.2 -868246 3.6 HDGF PKNOX1 ARNT CREB3L1 SIN3A ZNF2 ZNF766 ZNF302 ZNF548 ZNF263 ZCCHC8 SETD1B KNTC1 ANAPC5 ENSG00000272849 PSMD9 LINC01089 MIR4700 ENSG00000258435 ENSG00000201945
GH12F122265 0.2 ENCODE 47.5 -260.9 -260884 2.6 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 ZCCHC8 KNTC1 PSMD9 SETD1B ANAPC5 ENSG00000272849 ENSG00000235423 C12orf65 LOC101928346 LINC01089
GH12F122919 0.6 ENCODE 44.8 +392.8 392761 1.5 ZFP64 ZNF493 ZEB1 ZNF155 ZNF121 ZNF138 ZNF354C KLF7 FOS ZNF202 EIF2B1 ZCCHC8 LOC101927415 ATP6V0A2 ENSG00000235423 KNTC1 TCTN2 C12orf65 KMT5A TMED2
GH12F122523 0.2 ENCODE 37.6 -1.3 -1276 5.7 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 KNTC1 ZCCHC8 PSMD9 SETD1B ENSG00000252192 ENSG00000235423 DENR TMEM120B RSRC2 ENSG00000275265
GH12F122398 0.6 ENCODE 34.9 -125.9 -125877 6.0 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 KNTC1 ZCCHC8 PSMD9 LINC01089 C12orf65 LOC100506691 SETD1B CLIP1 ENSG00000252192 VPS33A
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KNTC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KNTC1 Gene

Chromosome:
12
Start:
122,527,246 bp from pter
End:
122,627,311 bp from pter
Size:
100,066 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 StructureGene Density

RefSeq DNA sequence for KNTC1 Gene

Proteins for KNTC1 Gene

  • 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

Post-translational modifications for KNTC1 Gene

  • Ubiquitination at Lys 625
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KNTC1 Gene

Domains & Families for KNTC1 Gene

Protein Domains for KNTC1 Gene

Suggested Antigen Peptide Sequences for KNTC1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for KNTC1 Gene

Function for KNTC1 Gene

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.

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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for KNTC1 Gene COMPARTMENTS Subcellular localization image for KNTC1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for KNTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IDA 11146660
GO:0005634 nucleus NAS 11146660
GO:0005694 chromosome IEA --
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:0006461 protein complex assembly NAS 11146660
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0007067 mitotic nuclear division IEA --
GO:0007093 mitotic cell cycle checkpoint IDA 11146660
genes like me logo Genes that share ontologies with KNTC1: view

No data available for SIGNOR curated interactions for KNTC1 Gene

Transcripts for KNTC1 Gene

Unigene Clusters for KNTC1 Gene

Kinetochore associated 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
KNTC1

Expression for KNTC1 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of KNTC1 Gene:

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.
genes like me logo Genes that share expression patterns with KNTC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners 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 34 35
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia KNTC1 34 35
  • 88.69 (n)
dog
(Canis familiaris)
Mammalia KNTC1 34 35
  • 88.64 (n)
mouse
(Mus musculus)
Mammalia Kntc1 34 16 35
  • 81.36 (n)
rat
(Rattus norvegicus)
Mammalia Kntc1 34
  • 79.97 (n)
oppossum
(Monodelphis domestica)
Mammalia KNTC1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KNTC1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KNTC1 34 35
  • 67.48 (n)
lizard
(Anolis carolinensis)
Reptilia KNTC1 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kntc1 34
  • 64.81 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9622 34
zebrafish
(Danio rerio)
Actinopterygii kntc1 34 35
  • 54.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta rod 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rod-1 35
  • 16 (a)
OneToOne
Species where no ortholog for KNTC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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

Sequence variations from dbSNP and Humsavar for KNTC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs772156434 Uncertain significance 122,626,224(+) ATTAT(C/T)GTAAA reference, missense
rs1014188 -- 122,622,346(-) ACAAT(C/T)GGAAG intron-variant
rs1021705 -- 122,569,508(+) TGCAT(A/T)CAGTA intron-variant
rs10706787 -- 122,586,076(+) GTTTG(-/T)TTTGT intron-variant
rs10719316 -- 122,620,186(+) AAAAA(-/A)GGTTT intron-variant

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)

Relevant External Links for KNTC1 Gene

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

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

Disorders for KNTC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KNTC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orbital plasma cell granuloma
  • orbital myositis
histrionic personality disorder
chronic orbital inflammation
  • chronic inflammation of orbit
kluver-bucy syndrome
  • klver-bucy syndrome
dependent personality disorder
- elite association - COSMIC cancer census association via MalaCards
Search KNTC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KNTC1

Genetic Association Database (GAD)
KNTC1
Human Genome Epidemiology (HuGE) Navigator
KNTC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KNTC1
genes like me logo Genes that share disorders with KNTC1: view

No data available for 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 2010) 3 4 22 64
  2. Zwilch, a new component of the ZW10/ROD complex required for kinetochore functions. (PMID: 12686595) Williams B.C. … Goldberg M.L. (Mol. Biol. Cell 2003) 3 4 22 64
  3. The ZW10 and Rough Deal checkpoint proteins function together in a large, evolutionarily conserved complex targeted to the kinetochore. (PMID: 11590237) Scaeerou F. … Goldberg M.L. (J. Cell Sci. 2001) 2 3 4 64
  4. Human Zw10 and ROD are mitotic checkpoint proteins that bind to kinetochores. (PMID: 11146660) Chan G.K.T. … Yen T.J. (Nat. Cell Biol. 2000) 2 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for KNTC1 Gene

Sources for KNTC1 Gene

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