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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]
KNTC1 (Kinetochore Associated 1) is a Protein Coding gene. Diseases associated with KNTC1 include Orbital Plasma Cell Granuloma and Chronic Orbital Inflammation. Among its related pathways are Signaling by GPCR and Mitotic Prometaphase.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11146660 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell Cycle, Mitotic |
.83
|
.60
|
2 | Mitotic Metaphase and Anaphase |
.94
|
|
3 | Mitotic Prometaphase | ||
4 | Signaling by Rho GTPases | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0007093 | mitotic cell cycle 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 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KNTC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KNTC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KNTC1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kntc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kntc1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KNTC1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KNTC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KNTC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KNTC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kntc1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.9622 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kntc1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | rod 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | rod-1 31 |
|
OneToOne |
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 | MISSENSE_VARIANT | |
rs11837038 | - | p.Val2021Gly | |||
rs17883249 | - | p.Glu738Asp | |||
rs35315099 | - | p.Thr1506Met | |||
rs7310898 | - | p.Pro1830Leu |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
orbital plasma cell granuloma |
|
|
chronic orbital inflammation |
|
|
orbital disease |
|
|
mikulicz disease |
|
|
dacryoadenitis |
|
|