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FLASH GENE
Symbol B9D1 contributors: mct/npt - updated : 24-08-2017
HGNC name B9 protein domain 1
HGNC id 24123
Corresponding disease
JBTS27 Joubert syndrome 27
MKS9 Meckel syndrome 9
Location 17p11.2      Physical location : 19.246.483 - 19.266.046
Synonym name
  • endothelial precursor protein B9
  • MKS1-related protein 1
  • Synonym symbol(s) B9, EPPB9, MKS9, MKSR1
    DNA
    TYPE functioning gene
    STRUCTURE 42.82 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1046 22.8 204 - 2011 21493627
    7 - 3132 - 147 - 2011 21493627
    6 - 1281 - 257 - 2011 21493627
    6 - 2961 - 155 - 2011 21493627
    7 - 3029 - 166 - 2011 21493627
    7 - 1047 - 186 - 2011 21493627
    7 - 1135 - 187 - 2011 21493627
    6 - 1374 - 183 - 2011 21493627
    6 - 841 - 153 - 2011 21493627
    - - 692 - 161 - 2011 21493627
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain    
    Reproductivemale systemprostate  highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a B9 domain
    HOMOLOGY
    Homologene
    FAMILY
  • B9D family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text
  • localize to transition zones/basal bodies of sensory cilia
  • basic FUNCTION
  • function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
  • required for normal Hh signaling, ciliogenesis, and ciliary protein localization
  • TMEM231 and B9D1 are essential for each other and other complex components such as MKS1 to localize to the transition zone
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • B9D1 and B9D2 are essential components of a B9 protein complex, disrupted in Meckel syndrome
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (B9D1, B9D2) proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MKS9 , JBTS27
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking B9d1 displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction