Gene

MKS1

Species
Homo sapiens
Symbol
MKS1
Name
MKS transition zone complex subunit 1
Synonyms
  • BBS13
  • FABB proteome-like protein
Biotype
protein coding gene
Automated Description
Involved in cilium assembly. Located in centrosome; ciliary basal body; and cytoplasm. Implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12968
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusMks110 of 10YesYes  
Rattus norvegicusMks110 of 10YesYes  
Xenopus laevismks1.L1 of 1YesYes           
Xenopus tropicalismks15 of 9YesYes   
Danio reriomks110 of 10YesYes  
Drosophila melanogasterMks18 of 9YesYes   
Caenorhabditis elegansmks-14 of 9YesYes   
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
B9D2117249303 of 8  
B9D1215446313 of 8  

Function - GO Annotations

No function available for that gene

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Abnormal cardiac septum morphology
Abnormal cardiovascular system morphology
Abnormal chorioretinal morphology
Abnormal electroretinogram
Abnormal form of the vertebral bodies
Abnormal heart morphology
Abnormal oral cavity morphology
Abnormal pattern of respiration
Abnormal speech pattern
Abnormal vertebral morphology
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume

Transgenic Alleles

No data available

Models

No data available

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
58.206M58.208M58.210M58.212M58.214M58.216M58.218MENST00000313863.11 (MKS1)ENST00000393119.7 (MKS1)ENST00000393120.6 (MKS1)ENST00000537529.7 (MKS1)ENST00000577315 (MKS1)ENST00000577824.5 (MKS1)ENST00000578789.1 (MKS1)ENST00000579358.1 (MKS1)ENST00000580127.6 (MKS1)ENST00000581180.2 (MKS1)Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.

Sequence Details

Transcript: Mode:

 

>ENST00000678763.1-cdna 17:58,205,441-58,211,715(-)
TGATACATACCTGTAGTCCCAGCTACTCATGATGCTGAGGCAGCAGGATTGCTTGAGCCTAGAAGTTTGAGTTTGCATTGAGCTATGATCACACCACTGCATTCCAGCCTGGACAACAGATCAAGACCCTGTCTGAAAAAAAAAGAAAGTGGTTTAGTTCAGCTATTCTGTTGTGCTGTTCTTTGTCTTTTCTCATTCTAAGAGTTCTATCTCTAGACCTGGAAACAAGGATAGAATTACTTCCTGGTCTCCCTCTCTTTCTCTGAAAAATTAACCTTCACTATTTCCATATTGCATAAGCAACAGATATTCAGTATTTAAAAGTTAGATAAGACATGCACAAATAATTAAAAAAGAAAACTCCCTGGTTTCTTGACCTCAGCCATCTAAAGGGAAGAGGGCGTTCTGGCTTCCCATTGCACACCACAGGACAGTTGCTGTTGCTTGAATAATTTCCCATAGTGCATTGTCCTCACTGCCATTTAAATTATGTACTTTCCCCCTACATTGTGAATCTTAGGAATGAAGGAAACAGATCTGTGGAGAAGTGTCAGGGTGGGGAGAAAGTGCAGTAGTGACACCCAGGGCCTGACCCCTAGTGGCAGGTCGTCTGCAGATTTGTAGATGGGGCTGGAGGAGAAGTGCCAATTCCCTCCAGGCCTGCTGATCCTTTCCCACTTCTCTTCACCTTAGACTGTCCCAGGTGCCCTCCGGCTCTTTGTAAATGGAGAGGTCGTTTCAGCCCAAGGCTATGAGTATGACAATCTCTACGTCCACTTCTTTGTAGAATTGCCAACTGCTCACTGGTCAAGCCCAGCATTCCAGCAGCTCTCAGGAGTAACACAGACCTGCACCACCAAGTCCCTGGCAATGGACAAGGTGGCTCACTTCTCCTACCCATTCACGTTTGAAGCCTTCTTCCTCCATGAGGATGAATCTTCTGATGCACTCCCGGAGTGGCCTGTGCTCTACTGTGAGGTCCTCTCGCTGGACTTCTGGCAGAGGTACCGTGTGGAAGGCTATGGGGCTGTGGTGCTGCCTGCCACTCCAGGCTCACACACCCTGACAGTCTCCACGTGGAGACCTGTGGAGCTTGGCACGGTGGCTGAGCTGAGGAGGTTTTTCATTGGCGGTTCTCTGGAACTGGAGGACCTCTCCTATGTACGGATACCAGGATCCTTCAAGGTGACTTTTGTCTTTGGAGTGACTTCACGCTGAGAACTTATGGTCCTGTCCTTCTGTAGGAGGTGGGATCTGGGTCAAGACCCCTTAGTTGTGCATTGCTTCAGTATTAACCCCTTCCTTCCTGTGGCTTAAGCTGGAAGTCATGACCACATTTTGAATCAGGTTCCAATATCTACACTGCTATCGTAGGAGGTCTCTGGAAAATAGTATAATTAGAGATTTCCCCTGGTTCCCATCAGAATAACTGGCTCTTTCCCCCATCACTGAAGGCCTCAGTAATCAGATGTGGGGAGGATTCACAGTAAGCATATAAGACCGCCGCTTCTCAAATGAGGTTGGAATGTTCCCTGGTTTAGTTGGGGGAGCCCAATAGCCCAGTATTAGCCTTGAGGTAATAGAGTCTGGGTGATGGAATAAGGTTTCCCCAACAGAACTGCGCTTCCCAAGAATGGGAATAAGAATGGGGGTGAGGCCAGCATGGTGCGGGGGTGTCTAGAGAGAGCAGAAACCTGAGGCTGTCCCAATGGCATGCCACAGGGGGAACGCCTGAGCCGCTTTGGACTCCGCACAGAGACCACAGGCACTGTCACCTTCCGCTTGCACTGTCTGCAGCAGTCCAGGGCCTTCATGGAATCGAGCTCCCTTCAGAAAAGGATGCGGAGTGTGTTGGACCGTCTGGAAGGGTTCAGCCAGCAGAGTTCCATTCACAATGTGCTAGAGGCCTTCCGTCGAGCCCGGCGCCGCATGCAGGAGGCCCGGGAAAGCCTCCCGCAGGACCTAGTGAGCCCCTCTGGAACCCTGGTCTCCTAGCTCACAGCAGCCCTGGCCCACAGTGCAAGAGGACAAGATGGGGGATATCTGAGGCCAGTGCTCTCCTGCCTCTTCGTCTTTCTGATTAGAGACCACGTTGGTCTGCTGAGAACCAGAAAAGCTGGGAAATTCCCGGCTGGCCCCTCTGCCTAGCCTTCTGCAGGGTCTTCTCCCTACCCTGTGGAAATAAAGCCAGAGACCCTGTGGCCCCCCCTTTATATTTGCAGCCACTGTCAATGGGCATCACAGCAAGGCAGGCTTTTTGATCTGAAGCTGTTTGGGGTGACCCCATAGTGAGTCTGGCCTTGACTCACTTTTCTGGCTTGTCTCACAGTAGCAGGGGATCTGCTGTTCTCCACCCTTTAAAAATGGAGCCTTTCATCTTCCAAGACCAAAGAAGGAAGGAAGGTGGACGGTGAGAGGGTCTTAAATCCCCAGCCTGTGAGTCTCAGCCTCTTTCCAGGGAAGCCTCATTCTACTGCTTGGGGCTTGCTGAGGTTGAGATATGAGTTATTTCTGAGTAAGTGAAGGCTGAAGGCAGTGCTGAGTCCTTTCTGCTAGCTGGGTGGTATCTTTTACTGTGTTTTTTTGTTTGTTTGTTTTTTTGTTTTTTGTTACATAAACCCCTTTTATTTTGA

 Legend:

  • Up/downstream
  • UTR
  • Coding
  • Intron
  • Genomic (i.e., unprocessed)
  • Amino acid

 IMPORTANT NOTE: Transcript and protein sequences here are derived from GFF coordinate mapping to the reference assembly. It is possible that this sequence differs from the transcript or amino acid sequence reported in NCBI RefSeq when the transcript or protein has its own NCBI RefSeq entry that differs from the genome assembly.

 Upper case bases for noncoding transcripts indicate mature transcript sequence (i.e., spliced exons when applicable) and for coding transcripts indicate mature transcript's coding region (i.e., CDS).

Expression

Primary Sources
None
Other Sources
all annotationsall anatomical structuresalimentary part of gastrointestinal systemchemosensory systemcirculatory systemendocrine systemexocrine systemhemolymphoid systemhepatobiliary systemintegumental systemmechanosensory systemmusculoskeletal systemnervous systemrenal systemreproductive systemrespiratory systemsensory systemvestibulo-auditory systemvisual systemendodermectodermmesodermmesenchymeadipose tissueappendageentire extraembryonic componentimaginal precursorpharyngeal archotherall stagesembryo stagepost embryonic, pre-adultpost-juvenile adult stageall cellular componentsextracellular regionplasma membranesynapsecell junctioncell projectioncytoplasmic vesicleendosomevacuolegolgi apparatusendoplasmic reticulumcytosolmitochondrionnucleuschromosomecytoskeletonprotein-containing complexother locations
MKS1 (Hsa)
Mks1 (Mmu)
Mks1 (Dme)
mks-1 (Cel)
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

115 interactor genes based on 149 annotations
MKS1 molecule type
Interactor gene
Interactor species
Interactor molecule type
Detection methods
Source
Reference
protein
ADAMTS4Homo sapiens
protein
  • affinity chromatography technology
PMID:28514442
protein
ADAMTS4Homo sapiens
protein
  • affinity chromatography technology
PMID:33961781
protein
AIPHomo sapiens
protein
  • proximity labelling technology
PMID:26638075
protein
AP3M1Homo sapiens
protein
  • proximity labelling technology
PMID:26638075
protein
ARFGAP3Homo sapiens
protein
  • proximity labelling technology
PMID:26638075
protein
ARL10Homo sapiens
protein
  • proximity labelling technology
PMID:35844135
protein
ARPC5Homo sapiens
protein
  • affinity chromatography technology
PMID:28514442
protein
ARPC5Homo sapiens
protein
  • affinity chromatography technology
PMID:33961781
protein
B9D1Homo sapiens
protein
  • proximity labelling technology
PMID:26638075
protein
B9D1Homo sapiens
protein
  • affinity chromatography technology
PMID:27173435
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Genetic Interactions

No data available