Mks1 - MKS transition zone complex subunit 1 Gene

Also Known as B8d3; avc6

Species: Mus musculus

Gene Type: protein coding
Gene ID: 380718

Summary

Involved in branching morphogenesis of an epithelial tube and cilium assembly. Acts upstream of or within several processes, including chordate embryonic development; plasma membrane bounded cell projection organization; and regulation of signal transduction. Located in ciliary transition zone; membrane; and microtubule organizing center. Part of MKS complex. Is expressed in several structures, including brain; esophagus epithelium; liver; lung; and metanephros. Used to study Meckel syndrome; atrioventricular septal defect; and tetralogy of Fallot. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]

Mks1 Products (1)

mRNA Protein Name
NM_001039684.3 NP_001034773.2 tectonic-like complex member MKS1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21565611 MGI
Biological Process GO Annotation Evidence References Source
involved in branching morphogenesis of an epithelial tube IMP
IMP: Inferred from mutant phenotype
17185389 MGI
acts upstream of or within cardiac septum morphogenesis IMP
IMP: Inferred from mutant phenotype
27340223 MGI
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
17185389 MGI
acts upstream of or within common bile duct development IMP
IMP: Inferred from mutant phenotype
19776033 MGI
acts upstream of or within determination of left/right symmetry IMP
IMP: Inferred from mutant phenotype
19776033 MGI
acts upstream of or within embryonic brain development IMP
IMP: Inferred from mutant phenotype
23454480 MGI
acts upstream of or within embryonic digit morphogenesis IMP
IMP: Inferred from mutant phenotype
19776033 MGI
acts upstream of or within embryonic skeletal system development IMP
IMP: Inferred from mutant phenotype
21045211 MGI
acts upstream of or within epithelial structure maintenance IMP
IMP: Inferred from mutant phenotype
19776033 MGI
acts upstream of or within head development IMP
IMP: Inferred from mutant phenotype
21045211 MGI
acts upstream of or within inner ear receptor cell stereocilium organization IMP
IMP: Inferred from mutant phenotype
21045211 MGI
acts upstream of or within motile cilium assembly IMP
IMP: Inferred from mutant phenotype
19776033 MGI
acts upstream of or within neural tube closure IMP
IMP: Inferred from mutant phenotype
19776033 MGI
acts upstream of or within non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
19776033 MGI
acts upstream of or within regulation of Wnt signaling pathway, planar cell polarity pathway IMP
IMP: Inferred from mutant phenotype
21045211 MGI
acts upstream of or within regulation of canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
23454480 MGI
acts upstream of or within regulation of smoothened signaling pathway IMP
IMP: Inferred from mutant phenotype
21045211 MGI
acts upstream of or within smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation IMP
IMP: Inferred from mutant phenotype
27340223 MGI
Cellular Component GO Annotation Evidence References Source
part of MKS complex IDA
IDA: Inferred from direct assay
21725307 MGI
located in centriole IDA
IDA: Inferred from direct assay
24302887 MGI
located in centrosome IDA
IDA: Inferred from direct assay
21045211 MGI
located in ciliary transition zone IDA
IDA: Inferred from direct assay
24302887 MGI
located in ciliary transition zone IMP
IMP: Inferred from mutant phenotype
21725307 MGI
located in membrane IDA
IDA: Inferred from direct assay
22179047 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

tectonic-like complex member MKS1

Meckel syndrome type 1 protein homolog

  • Meckel syndrome, type 1

  • meckel syndrome type 1 protein homolog

Mks1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
Mks1 Q5SW45 B9d1 Mus musculus Q9R1S0
Anti Tag CoIP
21763481
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08482 MKS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Mks1 NCBI NCBI:54903