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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
  • 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 histrionic personality disorder and orbital plasma cell granuloma. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases.

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

Promoters for KNTC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for KNTC1 Gene at MOPED

Post-translational modifications for KNTC1 Gene

  • Ubiquitination at Lys 625
  • Modification sites at PhosphoSitePlus

Other Protein References for KNTC1 Gene

Antibody Products

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

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus NAS 11146660
GO:0015629 actin cytoskeleton IDA --
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:0007062 sister chromatid cohesion TAS --
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

Drugs & Compounds for KNTC1 Gene

No Compound Related Data Available

Transcripts for KNTC1 Gene

Unigene Clusters for KNTC1 Gene

Kinetochore associated 1:
Representative Sequences:

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 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, MOPED, and MaxQB for KNTC1 Gene



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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia KNTC1 35
  • 88.69 (n)
  • 88.82 (a)
KNTC1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KNTC1 35
  • 88.64 (n)
  • 88.82 (a)
KNTC1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kntc1 35
  • 81.36 (n)
  • 81.21 (a)
Kntc1 16
Kntc1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KNTC1 35
  • 99.65 (n)
  • 99.55 (a)
KNTC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kntc1 35
  • 79.97 (n)
  • 81.57 (a)
oppossum
(Monodelphis domestica)
Mammalia KNTC1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KNTC1 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KNTC1 35
  • 67.48 (n)
  • 61.44 (a)
KNTC1 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KNTC1 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kntc1 35
  • 64.81 (n)
  • 60.06 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9622 35
zebrafish
(Danio rerio)
Actinopterygii kntc1 35
  • 54.66 (n)
  • 48.31 (a)
kntc1 36
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rod 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rod-1 36
  • 16 (a)
OneToOne
Species with no ortholog for KNTC1:
  • 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
rs7968222 - 122,546,241(+) GTTAA(G/T)AACCT nc-transcript-variant, reference, missense
rs17883249 - 122,573,216(+) TTAGA(C/G)AAGTT nc-transcript-variant, reference, missense
rs35315099 - 122,597,892(+) ACTGA(C/T)GAGCA intron-variant, reference, missense
rs7310898 - 122,605,408(+) AAAAC(C/T)TGGTG reference, missense
rs11837038 - 122,618,374(+) GCGTG(G/T)GATAC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv899570 CNV Gain 21882294
esv2661880 CNV Deletion 23128226
nsv826529 CNV Gain 20364138
esv2658251 CNV Deletion 23128226
nsv826530 CNV Loss 20364138

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

HapMap Linkage Disequilibrium report
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
histrionic personality disorder
orbital plasma cell granuloma
  • orbital myositis
kluver-bucy syndrome
  • klver-bucy syndrome
chronic orbital inflammation
  • chronic inflammation of orbit
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. 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 67
  2. Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. (PMID: 20462495) Civril F. … Musacchio A. (Structure 2010) 3 23
  3. 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 23
  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
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for KNTC1 Gene

Sources for KNTC1 Gene

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