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FLASH GENE
Symbol MKKS contributors: mct/npt/shn - updated : 21-05-2015
HGNC name McKusick-Kaufman syndrome
HGNC id 7108
Corresponding disease
BBS6 Bardet Biedl syndrome 6
MKKS McKusick-Kaufmann syndrome
Location 20p12.2      Physical location : 10.385.832 - 10.414.866
Synonym name hydrometrocolpos (McKusick-Kaufman syndrome)
Synonym symbol(s) HMCS, KMS, BBS6
DNA
TYPE functioning gene
STRUCTURE 29.03 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text two alternative splicing exons 1A, 1N
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 splicing 2678 - 570 - Hirayama (2008)
6 splicing 2540 - 570 - Hirayama (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx   highly
Endocrineparathyroid   highly
Nervousbraindiencephalonamygdala  
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text tissues
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
similarity with type 2 chaperonin
secondary structure alpha/beta
HOMOLOGY
Homologene
FAMILY
  • TCP-1 chaperonin family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • basal bodies
  • majority of BBS6 resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles
  • shuttles between the centrosome and cytosol in living cells, the rapidly degraded mutants often fail to localize to the centrosome (Hirayama 2008)
  • basic FUNCTION
  • putatively involved in protein processing in limb, cardiac and reproductive system development
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • involved in planar cell polarity
  • involved playing a role in retrograde intracellular trafficking of membrane-bound vesicles and organelles
  • may play important roles in ciliated epithelial tissues, which is consistent with the probable functions of BBS proteins in basal bodies (modified centrioles) and cilia
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease (Seo 2009)
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • MKKS, BBS10, BBS12 play an important role in the initial steps of assembly of the BBSome, which is a multiprotein complex essential for mediating the ciliary trafficking activity
  • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component part of a complex composed of three chaperonin-like BBS proteins (MKKS, BBS10, and BBS12), that are required for BBSome assembly (Seo 2010)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CEP290 (
  • MACF1 also interacts with the ciliary proteins MKKS and TALPID3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS6 , MKKS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialear 
    combinations of Cep290rd16 and Mkksko alleles in RD16 mice led to improved ciliogenesis and sensory functions
    ANIMAL & CELL MODELS
  • zebrafish embryos, combined subminimal knockdown of mkks and cep290 produced sensory defects in the eye and inner ear (