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FLASH GENE
Symbol ANKH contributors: mct/pgu - updated : 30-08-2010
HGNC name ankylosis, progressive homolog (mouse)
HGNC id 15492
Corresponding disease
CCAL2 chondrocalcinosis 2
CMDJ craniometaphyseal dysplasia
MRDA mental retardation, ankylosis, deafness
Location 5p15.2      Physical location : 14.704.909 - 14.871.887
Synonym name
  • craniometaphyseal dysplasia, Jackson type (dominant)
  • ankylosis, progressive (mouse) homolog
  • Synonym symbol(s) HANK, MANK, ANK, KIAA1581, CPPDD, FLJ27166
    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
    Physical map
    LOC389274 5 LOC389274 LOC285694 5p15.2 hypothetical LOC285694 LOC391738 5 similar to 60S ribosomal protein L29 (Cell surface heparin binding protein HIP) DNAH5 5p15-p14 dynein, axonemal, heavy polypeptide 5 TRIO 5p15.2 triple functional domain (PTPRF interacting) FLJ11127 5p15.2 hypothetical protein FLJ11127 LOC391739 5 similar to chaperonin containing TCP1, subunit 6A (zeta 1); chaperonin containing T-complex subunit 6 EEF1AL11 5p15.1 eukaryotic translation elongation factor 1 alpha-like 11 LOC90268 5p15.2 hypothetical protein BC007706 ANKH 5p15.2-p14.1 ankylosis, progressive homolog (mouse) LOC391740 5 similar to selenophosphate synthetase 2; selenide,water dikinase 2; selenium donor protein 2; selenophosphate synthase LOC391741 5 similar to actin, gamma, cytoplasmic FBXL7 5p14.1-p13.3 F-box and leucine-rich repeat protein 7 LOC345722 5p15.1 similar to KIAA1399 protein ZPR9 5p15.1 zinc finger-like protein 9 FLJ20152 5p15.1 hypothetical protein FLJ20152 LOC389275 5 LOC389275 MYO10 5p15-p14.3 myosin X FLJ34047 5p15.1 hypothetical protein FLJ34047 BASP1 5p15.1-p14 brain abundant, membrane attached signal protein 1 FTHL10 5p15.1 ferritin, heavy polypeptide-like 10 LOC285697 5p15.1 similar to Transcription initiation factor TFIID 28 kDa subunit (TAFII-28) (TAFII28) (TFIID subunit p30-beta) LOC340096 5p15.1 similar to histone (15.4 kD) (his-72)
    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
  • 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
  • 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
  • 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