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The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
MKS1 (MKS Transition Zone Complex Subunit 1) is a Protein Coding gene. Diseases associated with MKS1 include Meckel Syndrome, Type 1 and Bardet-Biedl Syndrome 13. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. An important paralog of this gene is B9D2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17185389 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 17185389 |
GO:0005813 | centrosome | IDA | 19208769 |
GO:0005814 | centriole | IEA | -- |
GO:0005815 | microtubule organizing center | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Organelle biogenesis and maintenance |
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2 | Signaling by Hedgehog | ||
3 | Regulation of PLK1 Activity at G2/M Transition | ||
4 | Signaling by GPCR | ||
5 | Ectoderm Differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001843 | neural tube closure | IEA | -- |
GO:0003271 | smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation | IEA | -- |
GO:0007368 | determination of left/right symmetry | IEA | -- |
GO:0008589 | regulation of smoothened signaling pathway | IEA | -- |
GO:0010669 | epithelial structure maintenance | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MKS1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MKS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC101905689 30 |
|
||
MKS1 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Mks1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mks1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MKS1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MKS1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MKS1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mks1 30 |
|
||
Str.19301 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13433 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mks1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15730 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638836 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,213,053(-) | A/G | MISSENSE_VARIANT | |
645921 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,207,935(-) | C/T | MISSENSE_VARIANT | |
651697 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,213,819(-) | C/G | MISSENSE_VARIANT | |
656438 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,206,541(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT | |
674917 | Benign: not provided | 58,213,195(-) | A/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
meckel syndrome, type 1 |
|
|
bardet-biedl syndrome 13 |
|
|
joubert syndrome 28 |
|
|
polydactyly |
|
|
joubert syndrome 1 |
|