Aliases for KNTC1 Gene
Aliases for KNTC1 Gene
External Ids for KNTC1 Gene
- HGNC: 17255
- Entrez Gene: 9735
- Ensembl: ENSG00000184445
- OMIM: 607363
- UniProtKB: P50748
Previous GeneCards Identifiers for KNTC1 Gene
- GC12M121730
- GC12U900005
- GC12P122820
- GC12P121450
- GC12P121451
- GC12P121536
- GC12P121577
- GC12P123011
- GC12P119972
Summaries 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 Mitotic Metaphase and Anaphase 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
Enhancers for KNTC1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around KNTC1 on UCSC Golden Path with GeneCards custom track
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
- Transcription factor binding sites by QIAGEN in the KNTC1 gene promoter:
Regulatory Element Products
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:
-
- 12q24.31 by Ensembl
- 12q24.31 by Entrez Gene
- 12q24.31 by HGNC
KNTC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for KNTC1 Gene
Post-translational modifications for KNTC1 Gene
Other Protein References for KNTC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for KNTC1
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- Invitrogen Antibodies for KNTC1
- antibodies-online Antibodies for KNTC1: See all 13
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-
Santa Cruz Biotechnology (SCBT) Antibodies for KNTC1
Protein Products
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Assay Products
- antibodies-online Kits for KNTC1: See all 1
No data available for DME Specific Peptides for KNTC1 Gene
Domains & Families for KNTC1 Gene
Protein Domains for KNTC1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KNTC1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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.
Phenotypes for KNTC1 Gene
- MGI mutant phenotypes for KNTC1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KNTC1:
Animal Model Products
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CRISPR Products
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OriGene CRISPR knockouts for KNTC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for KNTC1
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miRNA for KNTC1 Gene
- miRTarBase miRNAs that target KNTC1
-
- hsa-mir-193b-3p (MIRT016317)
- hsa-mir-484 (MIRT041835)
- hsa-mir-149-5p (MIRT045471)
- hsa-mir-183-5p (MIRT047167)
- hsa-mir-5584-3p (MIRT656786)
- hsa-mir-6875-3p (MIRT656787)
- hsa-mir-5006-3p (MIRT656788)
- hsa-mir-4755-5p (MIRT656789)
- hsa-mir-632 (MIRT656790)
- hsa-mir-4288 (MIRT656791)
- hsa-mir-527 (MIRT656792)
- hsa-mir-518a-5p (MIRT656793)
- hsa-mir-211-5p (MIRT656794)
- hsa-mir-204-5p (MIRT656795)
- hsa-mir-623 (MIRT656796)
- hsa-mir-6886-3p (MIRT656797)
- hsa-mir-4778-3p (MIRT656798)
- hsa-mir-6832-3p (MIRT656799)
- hsa-mir-5088-3p (MIRT656800)
- hsa-mir-129-2-3p (MIRT656801)
- hsa-mir-129-1-3p (MIRT656802)
miRNA Products
- Search ViGene Biosciences for KNTC1
Clone Products
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Cell Line Products
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 5 |
| plasma membrane | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000777 | condensed chromosome kinetochore | IEA | -- |
| GO:0005634 | nucleus | NAS | 11146660 |
| GO:0015629 | actin cytoskeleton | IDA | -- |
Pathways & Interactions for KNTC1 Gene
More details on SuperPathways for KNTC1| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Cell Cycle, Mitotic |
.83
|
.61
|
| 2 | Mitotic Metaphase and Anaphase |
.94
|
|
| 3 | Mitotic Prometaphase | ||
| 4 | Signaling by Rho GTPases | ||
| 5 | Signaling by GPCR |
Pathways by source for KNTC1 Gene
12 Reactome pathways for KNTC1 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for KNTC1 Gene
Transcripts for KNTC1 Gene
mRNA/cDNA for KNTC1 Gene
- (6) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (131) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KNTC1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KNTC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for KNTC1
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miRNA Products
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Clone Products
- OriGene clones in human for KNTC1
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Flow Cytometry Products
| 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: |
Expression for KNTC1 Gene
mRNA differential expression in normal tissues according to GTEx for KNTC1 Gene
This gene is overexpressed in Testis (x4.1).
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.
Primer Products
-
OriGene qPCR primer pairs for KNTC1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | KNTC1 35 |
|
||
| KNTC1 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | KNTC1 35 |
|
||
| KNTC1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Kntc1 35 |
|
||
| Kntc1 16 |
|
||||
| Kntc1 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | KNTC1 35 |
|
||
| KNTC1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Kntc1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KNTC1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KNTC1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KNTC1 35 |
|
||
| KNTC1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | KNTC1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kntc1 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9622 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kntc1 35 |
|
||
| kntc1 36 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | rod 36 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | rod-1 36 |
|
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)
Paralogs for KNTC1 Gene
Pseudogenes.org Pseudogenes for KNTC1 Gene
No data available for Paralogs for KNTC1 Gene
Variants 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 |
| 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 |
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)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KNTC1 Gene
Disorders for KNTC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| histrionic personality disorder |
|
|
| orbital plasma cell granuloma |
|
|
| kluver-bucy syndrome |
|
|
| chronic orbital inflammation |
|
|
| dependent personality disorder |
|
|
Search KNTC1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for KNTC1
No data available for UniProtKB/Swiss-Prot and Genatlas for KNTC1 Gene
Publications for KNTC1 Gene
- 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
- Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. (PMID: 20462495) Civril F. … Musacchio A. (Structure 2010) 3 23
- 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
- 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
- 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
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Sources for KNTC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
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