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FLASH GENE
Symbol CDK2AP1 contributors: mct - updated : 10-02-2016
HGNC name CDK2-associated protein 1
HGNC id 14002
Location 12q24.31      Physical location : 123.745.541 - 123.756.687
Synonym name
  • hamster Doc-1 (deleted in oral cancer-1) homolog
  • CDK2-associated protein 1
  • putative oral cancer suppressor
  • cyclin-dependent kinase 2-associated protein 1
  • Synonym symbol(s) P12DOC1, DORC1, DOC1, ST19, p12CDK2AP1, p12DOC1
    DNA
    TYPE functioning gene
    STRUCTURE 11.35 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    motif
    MAPPING cloned Y linked N status confirmed
    Physical map
    MONDOA 12q21.31 Mlx interactor MGC35140 12q24.31 hypothetical protein MGC35140 B3GNT4 12q24 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 DIABLO 12q24.1-q24.31 diablo homolog (Drosophila) VPS33A 12q24.31 vacuolar protein sorting 33A (yeast) RSN 12q24.3 restin (Reed-Steinberg cell-expressed intermediate filament-associated protein) RPL21P1 12q24.2-q24.3 ribosomal protein L21 pseudogene 1 DKFZp434E2220 12q24.31 hypothetical protein DKFZp434E2220 FLJ11021 12q24.31 similar to splicing factor, arginine/serine-rich 4 KNTC1 12q24.31 kinetochore associated 1 HM74a 12q24.31 G protein-coupled receptor HM74a HM74 12q24.31 G protein-coupled receptor HM74a GPR81 12q24.3 G protein-coupled receptor 81 DENR 12q24.31 density-regulated protein TSP-NY 12q24.31 testis-specific protein TSP-NY HIP1R 12q24 huntingtin interacting protein-1-related FLJ12750 12q24.31 hypothetical protein FLJ12750 ABCB9 12q24.31-q24.32 ATP-binding cassette, sub-family B (MDR/TAP), member 9 FLJ13491 12q24.31 hypothetical protein FLJ13491 ARL6IP4 12q24.31 ADP-ribosylation-like factor 6 interacting protein 4 PITPNM2 12q24.31 phosphatidylinositol transfer protein, membrane-associated 2 FLJ13769 12q24.31 hypothetical protein FLJ13769 MPHOSPH9 12q24.31 M-phase phosphoprotein 9 FLJ38663 12q24.31 hypothetical protein FLJ38663 CDK2AP1 12q24.31 CDK2-associated protein 1 SBNO1 12q24.31 sno, strawberry notch homolog 1 (Drosophila) LOC387893 12 similar to SET domain-containing protein 8 MGC7036 12q24.31 hypothetical protein MGC7036 RNP24 12q24.31 coated vesicle membrane protein DDX55 12q24.31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 EIF2B1 12q24.2-q24.31 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa GTF2H3 12q24.31 general transcription factor IIH, polypeptide 3, 34kDa FLJ12975 12q24.31 hypothetical protein FLJ12975 ATP6V0A2 12q24.31 ATPase, H+ transporting, lysosomal V0 subunit a isoform 2 DNAH10 13q14 dynein, axonemal, heavy polypeptide 10 FLJ22471 12q24.31 limkain beta 2 DKFZp761B128 12q24.31 hypothetical protein DKFZp761B128 LOC144347 12q24.31 hypothetical protein LOC144347
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1655 - 115 - 2000 10938106
    4 - 1136 - 87 - 2000 10938106
    4 - 1164 - 87 - 2000 10938106
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines squamous cell carcinoma lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • homodimeric structure of CDK2AP1 including an intrinsically disordered 60-AA N-terminal region, and a phosphorylation site for IKBKE at Ser-46, which is located in the intrinsically disordered N-terminal region of the protein structure
  • a four-helix bundle dimeric structure with reduced Cys-105 in the C-terminal region
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to hamster Doc-1
    Homologene
    FAMILY
    CATEGORY regulatory , tumor suppressor , signaling growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • growth suppressor
  • regulation of DNA replication
  • plays an essential role in the early stage of embryogenesis and has a potential role during craniofacial morphogenesis
  • CDK2AP1 exerts its effect on stem cell
  • maintenance/differentiation through epigenetic regulation
  • plays likely an important role in modulating the growth and tumorigenesis of lung cancer cells and also has significant effects on the chemosensitivity of pulmonary malignancies
  • tumor suppressor that plays a role in cell cycle regulation by sequestering monomeric CDK2, and targeting it for proteolysis
  • knockdown of CDK2AP1 in primary human fibroblasts reduced proliferation and induced premature senescence, with the observed phenotype being TP53 dependent
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • alternatively, a significant fraction of reduced homo- or heterodimeric CDK2AP1 may be present prior to its activation by disulfide bond formation within the dimeric structure
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • (p180,catalytic subunit) inhibiting DNA polymerase alpha/primase by its effect on the associated CDK2 activity
  • negative regulator of CDK2 activity
  • progesterone is primary regulator of CDK2AP1 gene expression and tissue-specific expression in the uterus
  • two putative binding partners: CDK2AP2 and CDK2
  • CDK2AP1 is a substrate for IKBKE
  • suppresses cell growth, differentiation and angiogenesis in numerous types of carcinoma by interacting with certain cell cycle proteins, including CDK2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    involved in the development of breast cancer and maybe a potential therapeutic candidate to suppress tumorigenicity in breast cancer
    cancerlung 
    may serve as a new molecular target for future lung cancer therapy
    ANIMAL & CELL MODELS