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FLASH GENE
Symbol CALHM1 contributors: mct/pgu - updated : 12-09-2012
HGNC name calcium homeostasis modulator 1
HGNC id 23494
Location 10q24.33      Physical location : 105.213.143 - 105.218.648
Synonym name
  • hypothetical protein LOC255022
  • protein FAM26C
  • family with sequence similarity 26, member C
  • Synonym symbol(s) MGC39617, MGC39514, FAM26C
    DNA
    TYPE functioning gene
    STRUCTURE 5.50 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3056 - 346 - 2004 15164054
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY FAM26 family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • multipass transmembrane glycoprotein that controls cytosolic Ca(2+) concentrations and Abeta levels
  • encodes an essential component of a previously uncharacterized cerebral Ca(2+) channel that controls Abeta levels and susceptibility to late-onset AD
  • cerebral calcium channel controlling intracellular calcium homeostasis and amyloid-beta (Abeta) peptide metabolism
  • modulates CSF Abeta levels in presymptomatic individuals, strengthening the notion that CALHM1 is involved in Alzheimer disease pathogenesis
  • increases Ca(2+) leak from the ER and, more importantly, reduces ER Ca(2+) uptake by decreasing both the transport capacity and the Ca(2+) affinity of SERCA (sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase)
  • plays a role in cortical neuronal excitability and Ca(2+) homeostasis, particularly in response to lowering [Ca(2+)](o) and its restoration to normal levels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    may cause mitochondrial Ca(2+) overload, suggesting how these cells may become more vulnerable to apoptotic stimuli
    Susceptibility
  • to late onset Alzheimer disease (AD)
  • to temporal lobe epilepsy (TLE)
  • Variant & Polymorphism other
  • P86L polymorphism (rs2986017) is significantly associated with AD
  • SNP rs11191692 in CALHM1 confers highly increased susceptibility to TLE
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS