Mks1 MKS transition zone complex subunit 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mks1provided by RGD
Official Full Name: MKS transition zone complex subunit 1provided by RGD
Primary source: RGD:1565186
See related: EnsemblRapid:ENSRNOG00000008635 AllianceGenome:RGD:1565186
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to be involved in branching morphogenesis of an epithelial tube and cilium assembly. Predicted to act upstream of or within several processes, including chordate embryonic development; plasma membrane bounded cell projection organization; and regulation of Wnt signaling pathway. Predicted to be located in several cellular components, including ciliary transition zone; cytoplasm; and microtubule organizing center. Predicted to be part of MKS complex. 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, Dec 2024]
Expression: Biased expression in Spleen (RPKM 28.6), Adrenal (RPKM 27.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q26

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (73152599..73167451)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (72655921..72667007)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (75149814..75160481)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MKS1 and MKS3 functions are required for ciliary structure and function.
Title: Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Process	Evidence Code	Pubs
involved_in branching morphogenesis of an epithelial tube	IEA Inferred from Electronic Annotation more info
involved_in branching morphogenesis of an epithelial tube	ISO Inferred from Sequence Orthology more info
involved_in cardiac septum morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cardiac septum morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in common bile duct development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within common bile duct development	ISO Inferred from Sequence Orthology more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
involved_in embryonic brain development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic brain development	ISO Inferred from Sequence Orthology more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic digit morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic skeletal system development	ISO Inferred from Sequence Orthology more info
involved_in epithelial structure maintenance	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within epithelial structure maintenance	ISO Inferred from Sequence Orthology more info
involved_in head development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within head development	ISO Inferred from Sequence Orthology more info
involved_in inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	ISO Inferred from Sequence Orthology more info
involved_in motile cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neural tube closure	ISO Inferred from Sequence Orthology more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of Wnt signaling pathway, planar cell polarity pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of Wnt signaling pathway, planar cell polarity pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of MKS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MKS complex	IEA Inferred from Electronic Annotation more info
part_of MKS complex	ISO Inferred from Sequence Orthology more info
part_of MKS complex	ISS Inferred from Sequence or Structural Similarity more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary transition zone	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_001034917.2 → NP_001030089.2 tectonic-like complex member MKS1

See identical proteins and their annotated locations for NP_001030089.2

Status: VALIDATED

Source sequence(s)

BC099806, DN948264

UniProtKB/Swiss-Prot

Q499Q5

UniProtKB/TrEMBL

F1LSL4

Related

ENSRNOP00000112136.1, ENSRNOT00000170743.1

Conserved Domains (1) summary

pfam07162
Location:322 → 495

B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

73152599..73167451

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039085574.2 → XP_038941502.1 tectonic-like complex member MKS1 isoform X1

UniProtKB/TrEMBL

F1LSL4

Related

ENSRNOP00000011500.4, ENSRNOT00000011500.5

Conserved Domains (1) summary

pfam07162
Location:316 → 499

B9-C2; Ciliary basal body-associated, B9 protein
XM_063268705.1 → XP_063124775.1 tectonic-like complex member MKS1 isoform X2

UniProtKB/TrEMBL

F1LSL4
XM_063268706.1 → XP_063124776.1 tectonic-like complex member MKS1 isoform X3

UniProtKB/TrEMBL

F1LSL4