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FLASH GENE
Symbol ANKH contributors: mct/pgu - updated : 30-08-2010
HGNC name ankylosis, progressive homolog (mouse)
HGNC id 15492
DNA
TYPE functioning gene
STRUCTURE 166.98 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 splicing 8224 54.2 492 - 1995 8528213
- splicing 2529 54.2 492 - 1995 8528213
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestineileum  
Endocrinepancreas   highly
Nervousbrain   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Skeletonosteoblast
Urinaryepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • N-terminal region interacted with SPHK1
  • three potential N linked glycosylation sites
  • multiple putative phosphorylation sites
  • 8 predicted transmembrane helices
  • a possible cilial localisation motif immediately after the last transmembrane segment
  • cytoplasmic C-terminal loop interacted with MYBBP1A
  • HOMOLOGY
    interspecies homolog to murine Ank
    Homologene
    FAMILY
  • ANKH family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text cilial and basal body localisation in renal tissues and renal epithelial cells
    basic FUNCTION
  • involved in bone formation and remodeling
  • stimulating saturable transport of pyrophosphate ions across the plasma membrane, with half maximal rates attained at physiological levels of pyrophosphate
  • multipass transmembrane protein that is expressed in joints and other tissues
  • regulating intra- and extracellular levels of inorganic pyrophosphate (PPI), probably functioning as PPI transporter
  • plays a central role in bone mineralization, and contributes to the genetic regulation of osteoprotegerin levels
  • pyrophosphate transporter, which regulates tissue calcification
  • regulates inorganic pyrophosphate (PPi) transport
  • may regulate tissue mineralization by transporting pyrophosphate to the extracellular space
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with the sodium/phosphate cotransporter POU1F1
  • ANKH /MYBBP1A and SPHK1 interactions stimulate catabolic events in IL1B-mediated cartilage degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMDJ , CCAL2 , MRDA
    Susceptibility to ankylosing spondylitis
    Variant & Polymorphism SNP polymorphisms increasing the risk of ankylosing spondylitis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS