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FLASH GENE
Symbol HCFC1 contributors: mct/npt/pgu - updated : 07-03-2017
HGNC name host cell factor C1 (VP16-accessory protein)
HGNC id 4839
Corresponding disease
MMACHX combined methylmalonic acidemia and hyperhomocysteinemia, cblX type
MRX3 mental retardation, 3
Location Xq28      Physical location : 153.213.009 - 153.236.819
Synonym name
  • host cell factor 1
  • VP16 accessory protein
  • C1 factor
  • protein phosphatase 1, regulatory subunit 89
  • Synonym symbol(s) HCF1, CFF, HFC1, VCAF, HCF-1, MGC70925, HCF, MRX3, PPP1R89
    DNA
    TYPE functioning gene
    STRUCTURE 23.81 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure several transcription factor binding sites, six copies of a 17mt long repeat element
    MAPPING cloned Y linked N status confirmed
    Map cen - L1CAM - AVPR2 - RENBP ,HCFC1 - RGCP@ - G6PD - qter
    Physical map
    ATP2B3 Xq28 ATPase, Ca++ transporting, plasma membrane 3 MGC29729 Xq28 hypothetical protein MGC29729 LOC340598 Xq28 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) DUSP9 Xq28 dual specificity phosphatase 9 LOC347544 Xq28 similar to ribosomal protein L18a; 60S ribosomal protein L18a MGC45419 Xq28 Similar to calcium/calmodulin-dependent protein kinase 1, beta SLC6A8 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 BCAP31 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ABCD1 Xq28 ATP-binding cassette, sub-family D (ALD), member 1 PLXNB3 Xq28 plexin B3 STK23 Xq28 serine/threonine kinase 23 IDH3G Xq28 isocitrate dehydrogenase 3 (NAD+) gamma SSR4 Xq28 signal sequence receptor, delta (translocon-associated protein delta) KIAA1444 Xq28 LU1 protein HCP45 Xq28 cytochrome c, somatic pseudogene L1CAM Xq28 L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1) AVPR2 Xq28 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ARHGAP4 Xq28 Rho GTPase activating protein 4 ARD1 Xq28 ARD1 homolog, N-acetyltransferase (S. cerevisiae) RENBP Xq28 renin binding protein HCFC1 Xq28 host cell factor C1 (VP16-accessory protein) CXorf12 Xq28 chromosome X open reading frame 12 IRAK1 Xq28 interleukin-1 receptor-associated kinase 1 MECP2 Xq28 methyl CpG binding protein 2 (Rett syndrome) OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 8436 - 2035 - 2009 19815555
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  moderately
     mouth   moderately
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systembreastmammary gland highly
     female systemovary  highly
     female systemuteruscervix moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion predominantly in lymph
    at STAGE
    physiological period embryo
    Text
  • highly expressed during embryonic brain development
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • octamer sequence (SiSa) known to bind YY1
  • five Kelch repeats, (a Kelch domain at the N terminus of HCF-1N)
  • a fibronectin-like motif
  • six HCF repeats, each of which contains a highly specific cleavage signal
  • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor heterodimer of HCF-1N and HCF-1C, which are produced by proteolytic processing of a large precursor protein
    HOMOLOGY
    interspecies homolog to rattus Hcfc1 (94.2 pc)
    homolog to murine Hcfc1 (94.3 pc)
    Homologene
    FAMILY
  • host cell factor family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm
    text localized to the Golgi apparatus in unstimulated neurons, a unique location for a transcriptional coactivator
    basic FUNCTION
  • playing a role in the positive regulation of progression through cell cycle
  • involved in the regulation of protein complex assembly
  • induces cell-cycle-specific transcriptional activation by E2F proteins to promote cell proliferation
  • cellular transcriptional coactivator critical for mediating the regulated expression of the immediate-early genes of the herpes simplex virus type 1 and varicella-zoster virus
  • important component of the viral latency-reactivation cycle that is regulated by association with a component that is distinct from the identified HCFC1 interaction factors
  • requirements during M-phase and G0/G1-S phase progression
  • required for stabilizing OGT in the nucleus
  • potent regulator of embryonic neural development
  • unusual transcriptional regulator that undergoes a process of proteolytic maturation to generate N- (HCF-1(N)) and C- (HCF-1(C)) terminal subunits noncovalently associated via self-association sequence elements.
  • functional relationship between HCFC1 and cobalamin metabolism
  • transcriptional co-regulator playing critical roles in promoting cell cycle progression in diverse cell types, and in maintaining self-renewal of embryonic stem cells
  • represents a novel transcriptional regulator required for maintaining pancreatic beta-cell function
  • functions as a direct coregulator of E2F proteins, facilitating the expression of genes necessary for cell proliferation
  • HCFC1 function is required for both extraembryonic and embryonic development
  • roles for HCFC1 in early embryonic cell proliferation and development
  • CELLULAR PROCESS cell cycle, progression
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a complex with OCT1, POU2F1
  • O-glycosylated
  • heterodimer of HCF-1N and HCF-1C, which are produced by proteolytic processing of a large precursor protein (HCF-1N is essential for G1 phase progression, whereas HCF-1C is important for proper cytokinesis)
  • assembled BAP1/HCFC1/YY1 complex acts to induce the activation of COX7C or other target genes
  • THAP11/ZNF143/HCFC1 complex is a critical component of the transcriptional regulatory network governing cell proliferation
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to YY1 transcription factor
  • binding to herpes simplex virus acidic transactivator protein VP 16
  • binding to the leucine-zipper protein CREB3
  • interacting with E2F1 (E2F1 HCFC1-binding site can modulate both up and down the ability of E2F1 to induce apoptosis indicating that HCFC1 association with E2F1 is a regulator of E2F1-induced apoptosis)
  • binds directly to THAP11 (association with HCFC1 suggests an epigenetic mechanism of gene repression in pluripotent cells)
  • associating with THAP1 and OGT to the RRM1 promoter during endothelial cell proliferation
  • BAP1 is a nuclear deubiquitinase known to target histones (together with ASXL1 as a Polycomb repressor subunit) and the HCFC1 transcriptional co-factor
  • large proportion of the signaling enzyme OGT is complexed with HCFC1 and this interaction is essential for HCFC1 cleavage
  • binding of BAP1 to HCFC1 is likely to be important for BAP1-mediated suppression of RCC development
  • coregulator of the zinc-finger transcription factor THAP11 . directly associates with YY1, and through the interaction of YY1 with MECP2, it regulates mitochondrial adenine nucleotide translocase SLC25A4 and thus might contribute to the pathology of Rett syndrome
  • crucial role of HCFC1 in cell-cycle regulation and particularly in cell growth is supported by its interaction with the deubiquitinating enzyme BAP1
  • KMT2E can associate with the cell cycle regulator "host cell factor" (HCFC1)
  • role for HCFC1 in transcriptional regulation of MMACHC
  • distinct OGT-binding sites in HCFC1 promote proteolysis
  • serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators
  • interaction between ZNF143 and HCFC1, a protein that regulates expression of the Cbl trafficking enzyme MMACHC
  • CREB3 interaction with cell cycle regulator HCFC1
  • cell & other
    REGULATION
    Other regulated by BAP1 (BAP1 helps to control cell proliferation by regulating HCFC1 protein levels and by associating with genes involved in the G(1)-S transition)
    protein glycosylation and HCFC1 cleavage occur in the same active site
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX3 , MMACHX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    disrupt neuronal and neural progenitor cells of the developing brain
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS