Mkks Gene Summary [Mouse]

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Details

Type
Protein Coding
Official Symbol
Mkks
Official Name
McKusick-Kaufman syndrome [Source:MGI Symbol;Acc:MGI:1891836]
Ensembl ID
ENSMUSG00000027274
Bio databases IDs NCBI: 59030 Ensembl: ENSMUSG00000027274
Aliases McKusick-Kaufman syndrome
Synonyms 1300013E18Rik, AI957237, AL034430.1, AL034430.2, BBS6, HMCS, KMS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein, MKS
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mkks often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • T-complex protein 1, beta subunit
  • T-complex protein 1, alpha subunit
  • T-complex protein 1, eta subunit
  • transcription factor binding
  • protein binding
  • chaperonin_like
  • TCP-1/cpn60 chaperonin family

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
  • obesity
  • Bardet-Biedl syndrome
  • Bardet-Biedl syndrome type 6
  • hereditary disorder
  • McKusick-Kaufman syndrome
  • progressive cone dystrophy without rod involvement
  • retinal dystrophy
  • digenic Bardet-Biedl syndrome 2/6
  • ciliopathy
regulates
role in cell
  • expression in
  • assembly
  • upregulation in
  • formation
  • polymerization
  • length
  • development
  • secretion
  • lack
  • downregulation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • motile cilia
  • Nucleus
  • basal bodies
  • centrosome

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Mkks gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of stress fiber assembly
  • brain morphogenesis
  • striatum development
  • fat cell differentiation
  • vasodilation
  • convergent extension involved in gastrulation
  • face development
  • positive regulation of multicellular organism growth
  • heart development
  • photoreceptor cell maintenance
  • sensory perception of smell
  • heart looping
  • developmental process
  • detection of mechanical stimulus involved in sensory perception of sound
  • melanosome transport
  • negative regulation of appetite by leptin-mediated signaling pathway
  • social behavior
  • cilium morphogenesis
  • spermatid development
  • intracellular transport
  • regulation of cilium beat frequency involved in ciliary motility
  • negative regulation of blood pressure
  • hippocampus development
  • cerebral cortex development
  • protein folding
  • visual perception
  • determination of left/right symmetry
  • negative regulation of gene expression
  • gonad development
  • negative regulation of actin filament polymerization
  • chaperone-mediated protein complex assembly
  • artery smooth muscle contraction
  • pigment granule aggregation in cell center
  • cartilage development

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • motile cilium
  • centrosome
  • cytoplasm
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • protein binding
  • unfolded protein binding

Gene-Specific Assays for Results You Can Trust

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