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FLASH GENE
Symbol AHCTF1 contributors: mct - updated : 28-12-2016
HGNC name AT hook containing transcription factor 1
HGNC id 24618
Location 1q44      Physical location : 247.002.401 - 247.094.726
Synonym name
  • ELYS transcription factor-like protein TMBS62
  • transcription factor ELYS
  • embryonic large molecule derived from yolk sac
  • Synonym symbol(s) ELYS, MST108, TMBS62, MSTP108, ELY5, MEL-28
    DNA
    TYPE functioning gene
    STRUCTURE 92.88 kb     36 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    36 - 8913 - 2214 - 2012 22555603
    36 - 8917 - 2266 - 2012 22555603
    36 - 8643
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland highly
     male systemprostate  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal &
  • 946;-propeller domain
  • 1 A.T hook DNA-binding domain
  • a central alpha-helical domain,
  • has conserved structural domains that are essential for its fundamental roles in NPC assembly and chromosome segregation
  • a C-terminal disordered region
  • HOMOLOGY
    interspecies ortholog to murine Elys
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,kinetochore
    intracellular,nuclear envelope,pore
    text localized to both the nuclear pores and nuclear interior during interphase, and to the kinetochore in mitosis
    basic FUNCTION
  • may play a role in early development being critical for the survival of inner cells of the blastocyst
  • dual nucleoporin/kinetochore protein required for nuclear pore assembly at the nucleus and proper cell division
  • NUP37 and AHCTF1 are stable architectural nucleoporins that occur, independent of one another
  • minimal essential function of nucleosomes in nuclear pore complexes (NPCs) formation is to recruit RCC1 and AHCTF1
  • plays a critical role in post-mitotic nuclear pore complexes (NPCs) reassembly through recruitment of the NUP107-160 subcomplex, and is required for correct segregation of mitotic chromosomes
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of both the nuclear pore and kinetochore as well as being intranuclear
  • KPNB1 forms a high-molecular-weight complex with both AHCTF1 and the NUP107-160 complex in cytosol
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • capture of AT-rich chromatin by AHCTF1 recruits POM121 and NDC1 to initiate nuclear pore assembly
  • nucleoporin AHCTF1, which is crucial for postmitotic NPC formation, is essential for recruiting the LBR to the chromosomal noncore region
  • is a RanGTP target that functions throughout the cell cycle
  • docks the catalytic subunit of protein phosphatase 1 (PPP1CC) to direct kinetochore disassembly-dependent chromosome segregation during oocyte meiosis I and nuclear assembly during the transition from M phase to interphase
  • depletion of AHCTF1 promoted LBR phosphorylation at the residues known to be phosphorylated by cyclin-dependent kinase (CDK) and serine/arginine protein kinases 1 and 2 (SRPK1 and SRPK2, respectively)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • conditional inactivation of the Elys locus in the developing mouse intestinal epithelium led to a reversible delay in growth in juvenile mice that was associated with epithelial architecture distortion and crypt cell apoptosis