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FLASH GENE
Symbol ALMS1 contributors: mct/pgu - updated : 09-09-2010
HGNC name Alstrom syndrome 1
HGNC id 428
DNA
TYPE functioning gene
STRUCTURE 224.16 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
motif repetitive sequence
text structure
  • transcription is regulated by the ubiquitous factor Sp1, and by regulatory factor X (RFX) proteins
  • evolutionarily conserved X-box in the ALMS1 proximal promoter binding RFX proteins (RFX1 and RFX2 bind to the ALMS1 promoter)
  • MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 12928 461 4169 - 2011 21071598
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumhair cell receptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text heart, liver, kidney, lung, eye, neural tube
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • large tandem repeat domain comprising 34 imperfect repetition of 47AA
  • coiled-coil domain
  • leucine zipper and potential signal peptide
  • C-terminus contains an ‘ALMS motif’ of 120 AAs which share sequence similarity with centriolar proteins, C10orf90 and KIAA1731
  • HOMOLOGY
    interspecies homolog to C.elegans C16D9.2
    Homologene
    FAMILY
    CATEGORY motor/contractile , unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • in the centriole
  • localized to the basal bodies of hair cells and supporting cells
  • localized to the ciliary basal body and/or centrioles in multiple tissues during development and in the functionally mature cochlea
  • basic FUNCTION
  • may playing a role in hearing, sight, obesity, and liver function
  • playing a role in intracellular trafficking
  • playing an important role in in cilia function and intra flagellar transport
  • centrosomal protein implicated in the assembly and maintenance of primary cilia
  • implicated in planar cell polarity signaling and the loss of outer hair cells causes potentially the majority of the hearing loss in Alström Syndrome
  • role in the regulation of cilium-dependent planar cell polarity and possible widespread roles for ALMS1 in mature cochlear function and homeostasis
  • can contributes to ciliary function in the cochlea
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    protein interacting with RFX1, RFX2 (activate ALMS1 transcription during serum starvation-induced growth arrest, most likely as part of the ciliogenic program)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ALMS1
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • iIn Alms1-disrupted mice, which recapitulate the neurosensory deficits of human Alström Syndrome, cochleae displayed several cyto-architectural defects including abnormalities in the shape and orientation of hair cell stereociliary bundles