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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 Signaling by Hedgehog and Signaling by GPCR. An important paralog of this gene is B9D1.
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 | IDA,IEA | 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 |
.56
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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:0003279 | cardiac septum development | IEA | -- |
GO:0007224 | smoothened signaling pathway | IEA | -- |
GO:0007368 | determination of left/right symmetry | 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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | MKS1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | LOC101905689 32 |
|
||
MKS1 33 |
|
OneToOne | |||
mouse (Mus musculus) |
Mammalia | Mks1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Mks1 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | MKS1 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | MKS1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | MKS1 33 32 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | mks1 32 |
|
||
Str.19301 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13433 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | mks1 33 32 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | CG15730 33 |
|
OneToOne | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1031187314 | uncertain-significance, Joubert syndrome, Meckel-Gruber syndrome | 58,219,167(-) | G/A/T | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs111315726 | benign-likely-benign, benign, uncertain-significance, not specified, Joubert syndrome, Meckel-Gruber syndrome, not provided | 58,206,519(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
rs1114167302 | likely-pathogenic, Joubert syndrome, - | 58,216,687(-) | C/A | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs11548967 | uncertain-significance, benign, likely-benign, not provided, not specified, Meckel-Gruber syndrome, Bardet-Biedl syndrome | 58,206,088(-) | C/A/G/T | 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs116514023 | benign, uncertain-significance, not specified, Meckel-Gruber syndrome, Bardet-Biedl syndrome | 58,219,248(-) | G/C | 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
meckel syndrome, type 1 |
|
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bardet-biedl syndrome 13 |
|
|
joubert syndrome 28 |
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polydactyly |
|
|
joubert syndrome 1 |
|