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FLASH GENE
Symbol WDHD1 contributors: sge/npt/pgu - updated : 16-03-2013
HGNC name WD repeat and HMG-box DNA binding protein 1
HGNC id 23170
Location 14q22.2      Physical location : 55.405.655 - 55.493.819
Synonym name
  • AND-1 protein
  • acidic nucleoplasmic DNA-binding protein 1 like
  • CTF4, chromosome transmission fidelity factor 4 homolog
  • Synonym symbol(s) AND-1, AND1, CHTF4, CTF4
    DNA
    TYPE functioning gene
    STRUCTURE 86.87 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    BMP4 14q22-q23 bone morphogenetic protein 4 LOC341862 14q22.1 similar to ATP synthase gamma chain, mitochondrial precursor CDKN3 14q22 cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) CNIH 14q22.1 cornichon homolog (Drosophila) GMFB 14q22.1 glia maturation factor, beta CGRRF1 14q22.1 cell growth regulator with ring finger domain 1 SAMD4 14q22.2 sterile alpha motif domain containing 4 GCH1 14q22.1-q22.2 GTP cyclohydrolase 1 (dopa-responsive dystonia) WDHD1 14q22.2 WD repeat and HMG-box DNA binding protein 1 SOCS7 14q22.2 suppressor of cytokine signaling 7 C14orf32 14q22.1 chromosome 14 open reading frame 32 LGALS3 14q21-q22 lectin, galactoside-binding, soluble, 3 (galectin 3) GALIG 14q21-q22 lectin, galactoside-binding, soluble, 3 (galectin 3) DLG7 14q22.1-q22.3 discs, large homolog 7 (Drosophila) UBE2L7 5p14.1 ubiquitin-conjugating enzyme E2L 7 pseudogene COX5AP1 14q22 cytochrome c oxidase subunit Va pseudogene 1 FBXO34 14q22.1 F-box only protein 34 KIAA0831 14q22.2 KIAA0831 HMGN1P1 14 high-mobility group nucleosome binding domain 1 pseudogene 1 LOC390477 14 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) SSH3BP1P 14 spectrin SH3 domain binding protein 1 pseudogene KTN1 14q22 kinectin 1 (kinesin receptor) LOC390479 14 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein LOC387989 14 LOC387989 PELI2 14q21 pellino homolog 2 (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 4734 126 1129 - 1997 9175701
    25 - 4641 - 1006 - 1997 9175701
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     stomach    
    Skin/Tegumentskin    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal WD40 domain
  • one HMG-box
  • seven WD40 repeats
  • a SepB domain likely playing a primary role determining the dimeric structure , in the middle
  • C-terminal HMG motif
  • HOMOLOGY
    interspecies ortholog to murineWdhd1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text
  • in nucleoplasm during interphase and translocated in cytoplasm during mitosis
  • associates with centromeres in a cell cycle-dependent manner, coinciding with mid-to-late S phase
  • associates with chromatin at late mitosis, suggesting that WDHD1 may be involved in the assembly of newly synthesized CENPA in early G1 phase
  • basic FUNCTION
  • transferase activity
  • may be involved in chromatin assembly, transcription and replication
  • coordinating multiple cellular events in S phase and G(2) phase such as DNA replication, checkpoint activation, sister chromatid cohesion, and DNA damage repais, thus playing a pivotal role in the maintenance of genome integrity
  • with ATAD5, and CHTF18 may coordinate the relative movement of the replication fork with respect to the cohesin ring
  • is likely to play an important role in lung and esophageal carcinogenesis as a cell cycle regulator and a downstream molecule in the phosphoinositide 3-kinase/AKT pathway
  • required for both DNA replication and the establishment of sister chromatid cohesion
  • plays an essential role in DNA replication and its ability to stimulate the replicative DNA polymerases may contribute to this effect
  • key regulator of centromere function
  • may be a critical component of the RNA-dependent epigenetic control mechanism that sustains centromere integrity and genomic stability
  • assembled onto chromatin in late mitosis and early G(1) phase before the assembly of prereplicative (pre-RC)complex in cells
  • facilitates loading of the MCM2-7 helicase onto chromatin during the assembly of pre-RC
  • is an important factor that functions together with HJURP to facilitate the cell cycle-specific recruitment of CENPA to centromeres
  • is required for the centromere-specific deposition of new CENPA in early G1 phase
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • forms complexes with MCM2-7 to facilitate the assembly of MCM2-7 onto chromatin at replication origins in late mitosis and G(1) phase
  • forms a complex with prenucleosomal CENPA
  • WDHD1-CLSPN-TIPIN-TIMELESS complex, which coordinate DNA unwinding with polymerase alpha-, delta-, and epsilon- dependent DNA polymerization are constituents of the Replisome
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacts with MCM10, which associates with MCM2-7, and with the p180 subunit of POLA
  • high mobility group domain-containing protein having remarkable capability to regulate the stability of KAT2A proteins and thereby histone H3 acetylation
  • functional link between KAT2A and WDHD1 essential for KAT2B protein stability and histone H3 acetylation, but also a potential role of WDHD1 in cancer
  • DTL and WDHD1 play an essential role in the regulation of KAT2A protein stability
  • DNA2 associates with the replisome protein WDHD1 in a cell cycle-dependent manner
  • is a new factor that is required for the assembly of CENPA nucleosomes
  • HJURP-interacting partner required for HJURP localization at centromeres
  • interacts with both CENPA and HJURP in a prenucleosomal complex, and the association of WDHD1 with CENPA is increased during the cell cycle transition from mitosis to G1 phase
  • cell & other
    REGULATION
    inhibited by phosphorylation in response to replication arrest
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • candidate biomarker of lung and esophageal carcinogenesis
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveoesophagus
    promising therapeutic target for cancer
    ANIMAL & CELL MODELS