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FLASH GENE
Symbol ALMS1 contributors: mct/pgu - updated : 09-09-2010
HGNC name Alstrom syndrome 1
HGNC id 428
Corresponding disease
ALMS1 Alström disease
Location 2p13.1      Physical location : 73.612.885 - 73.837.046
Synonym name
  • cDNA sequence, expressed in brain, >100kDa
  • alstrom syndrome protein 1
  • Synonym symbol(s) KIAA0328, ALSS, DKFZp686A118, DKFZp686D1828
    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
    Physical map
    SEC15L2 2p13.2 SEC15-like 2 (S. cerevisiae) SPR 2p14-p12 sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) LOC388959 2 LOC388959 EMX1 2p13.3 empty spiracles homolog 1 (Drosophila) SFXN5 2p13 sideroflexin 5 GAF1 2p13-p12 gamma-SNAP-associated factor 1 LOC344022 2p13.2 similar to Gnot1 homeodomain protein SMYD5 2p12 SMYD family member 5 C2orf7 2p12 chromosome 2 open reading frame 7 CCT7 2p13.2 chaperonin containing TCP1, subunit 7 (eta) EGR4 2p13 early growth response 4 LOC391387 2 similar to protein 40kD ALMS1 2p13 Alstrom syndrome 1 NAT8 2p13-1-p12 N-acetyltransferase 8 (camello like) LOC200420 2p13.1 LOC200420 CML2 2p13.1 putative N-acetyltransferase Camello 2 CGI-121 2p24.3-p24.1 CGI-121 protein DUSP11 2p13 dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) LOC388960 2 similar to hypothetical protein 4921507A12 AMSH ACTG2 2p13.1 actin, gamma 2, smooth muscle, enteric DGUOK 2p24.3-p24.1 deoxyguanosine kinase LOC388961 2 LOC388961 MGC22014 2p13.1 hypothetical protein MGC22014 MGC10955 2p13.1 hypothetical protein MGC10955 LOC388962 2 similar to RIKEN cDNA 1810056O20 C2orf6 2p12 chromosome 2 open reading frame 6 MTHFD2 2p12 methylene tetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase SLC4A5 2p13 solute carrier family 4, sodium bicarbonate cotransporter, member 5 DCTN1 2p13 dynactin 1 (p150, glued homolog, Drosophila) LOC388963 2 similar to Retinol dehydrogenase 12 LOC257200 2p13.1 similar to high mobility group AT-hook 1 FLJ12953 2p13.1 hypothetical protein FLJ12953 similar to Mus musculus D3Mm3e RTKN 2p13 rhotekin
    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