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FLASH GENE
Symbol KREMEN1 contributors: mct - updated : 05-10-2010
HGNC name kringle containing transmembrane protein 1
HGNC id 17550
Location 22q12.1      Physical location : 29.469.065 - 29.564.321
Synonym name
  • kringle-coding gene marking the eye and the nose
  • Dickkopf receptor
  • kremen protein 1
    • Synonym symbol(s) KRM1, KREMEN, FLJ31863, KREMEM1
    DNA
    TYPE functioning gene
    STRUCTURE 95.22 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    MN1 22q12.1 meningioma (disrupted in balanced translocation) 1 PITPNB 22q12.1 phosphotidylinositol transfer protein, beta KIAA1043 22q12.1 KIAA1043 protein LOC284901 22q12.2 similar to bA436C9.2 (PUTATIVE novel protein similar to part of HSP70/HSP90 organizing protein and transformation sensitive protein) CHEK2 22q12.1 CHK2 checkpoint homolog (S. pombe) HSC20 22q12.2 J-type co-chaperone HSC20 FLJ33814 22q12.2 hypothetical protein FLJ33814 XBP1 22q12.2 X-box binding protein 1 LOC388890 22 LOC388890 FLJ12747 22q12.1 novel C3HC4 type Zinc finger (ring finger) HS747E2A 22q12.1 hypothetical protein HS747E2A KREMEN1 22q12.1 kringle containing transmembrane protein 1 EMU1 22q12.2 emilin and multimerin-domain containing protein 1 C22orf3 22q12.1-q12.2 chromosome 22 open reading frame 3 EWSR1 22q12.2 Ewing sarcoma breakpoint region 1 GAS2L1 22q12.2 growth arrest-specific 2 like 1 RRP22 22q12.2 growth arrest-specific 2 like 1 AP1B1 22q12.2 adaptor-related protein complex 1, beta 1 subunit RFPL1 22q12.2 ret finger protein-like 1 NEFH 22q12.2 neurofilament, heavy polypeptide 200kDa C22orf19 22q12 chromosome 22 open reading frame 19 NIPSNAP1 22q12.2 nipsnap homolog 1 (C. elegans) NF2 22q12.2 neurofibromin 2 (bilateral acoustic neuroma) CABP7 22q12.2 calcium binding protein 7 LOC55954 22cen-q12.3 hypothetical protein LOC55954 HSPC051 22cen-q12.3 ubiquinol-cytochrome c reductase complex (7.2 kD) ASC1p100 22q12.1 ASC-1 complex subunit P100 MTMR3 22q12.2 myotubularin related protein 3 LOC391326 22 similar to h2-calponin MGC26710 22q12.2 hypothetical protein MGC26710 LIF 22q12.2 leukemia inhibitory factor (cholinergic differentiation factor) OSM 22q12.2 oncostatin M TBC1D10 22q12.1-qter TBC1 domain family, member 10
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing codon stop 6166 52 473 - 2002 12050670
    10 splicing codon stop 2759 54.1 492 - 2002 12050670
    an additional internal segment in the C terminus
    9 - 6115 50.2 458 - 2002 12050670
    EXPRESSION
    Rna function mRNA expression is low in the early stages, but gradually and continuously increases with developmental progression and differentiation
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • a kringle domain
  • a WSC, a CUB domain
  • six glycosylation sites in the extracellular region
    • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Kremen
    homolog to rattus Kremen
    homolog to Xenopus Xl.12084
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I transmembrane protein
    basic FUNCTION
  • DKK receptor, cooperating with DKK1 to block WNT, beta catenin signaling pathway
  • playing a role for in proper development of thymic epithelium
  • not universally required for DKK1 function
  • inducing exocytosis, cell cell interaction
  • functions as the gatekeeper of Wnt signalling in development and pathology )
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , cell to cell transport , exocytosis transport , electron transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of a ternary complex with DKK1 and the lipoprotein related protein - (LRP6)
  • components of a membrane complex modulating canonical WNT signaling through LRP6
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to LRP6, KREMEN2
  • with KREMEN2, identified to be the high-affinity receptors for Dickkopf (Dkk), the inhibitor of Wnt/beta-catenin signalling
  • functional interaction of Kremen proteins with DKK1 as negative regulators of Wnt/beta-catenin signaling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to schizophrenia in the Japanese
    • Variant & Polymorphism other
  • a common variant in the promoter region of KREMEN1 might modulate the risk of schizophrenia in the Japanese
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Krm double mutants show enhanced Wnt signaling accompanied by ectopic postaxial forelimb digits and expanded apical ectodermal ridges