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Mks1 MKS transition zone complex subunit 1 [ Mus musculus (house mouse) ]

Gene ID: 380718, updated on 14-May-2024

Summary

Official Symbol
Mks1provided by MGI
Official Full Name
MKS transition zone complex subunit 1provided by MGI
Primary source
MGI:MGI:3584243
See related
Ensembl:ENSMUSG00000034121 AllianceGenome:MGI:3584243
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
B8d3; avc6
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]
Expression
Ubiquitous expression in limb E14.5 (RPKM 6.4), CNS E14 (RPKM 4.9) and 28 other tissues See more
Orthologs
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Genomic context

See Mks1 in Genome Data Viewer
Location:
11 C; 11 52.24 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (87744007..87754629)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (87853182..87863803)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene Mpo proximal enhancer and promoter region Neighboring gene myeloperoxidase Neighboring gene lactoperoxidase Neighboring gene STARR-seq mESC enhancer starr_30300 Neighboring gene eosinophil peroxidase Neighboring gene olfactory receptor family 4 subfamily D member 2B

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (3)  1 citation
  • Endonuclease-mediated (3) 
  • Targeted (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in branching morphogenesis of an epithelial tube IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cardiac septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within common bile duct development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic digit morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within epithelial structure maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within head development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within inner ear receptor cell stereocilium organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neural tube closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of Wnt signaling pathway, planar cell polarity pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of MKS complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary transition zone IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tectonic-like complex member MKS1
Names
Meckel syndrome, type 1
meckel syndrome type 1 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039684.3NP_001034773.2  tectonic-like complex member MKS1

    See identical proteins and their annotated locations for NP_001034773.2

    Status: VALIDATED

    Source sequence(s)
    AA290154, AK044912, DQ177342
    Consensus CDS
    CCDS36271.1
    UniProtKB/Swiss-Prot
    Q3V3W3, Q5SW45
    UniProtKB/TrEMBL
    B2KGP7, Q284W0
    Related
    ENSMUSP00000043790.7, ENSMUST00000038196.7
    Conserved Domains (1) summary
    pfam07162
    Location:322495
    B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    87744007..87754629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156818.1XP_036012711.1  tectonic-like complex member MKS1 isoform X2

    UniProtKB/TrEMBL
    B2KGP7
    Conserved Domains (1) summary
    pfam07162
    Location:316463
    B9-C2; Ciliary basal body-associated, B9 protein
  2. XM_017314631.2XP_017170120.1  tectonic-like complex member MKS1 isoform X1

RNA

  1. XR_003949468.1 RNA Sequence