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Aliases for HCFC1 Gene

Aliases for HCFC1 Gene

  • Host Cell Factor C1 2 3
  • HCF1 3 4 6
  • VP16-Accessory Protein 2 3
  • HCF-1 3 4
  • HFC1 3 4
  • MRX3 3 6
  • VCAF 3 4
  • CFF 3 4
  • HCF 3 4
  • Host Cell Factor C1 (VP16-Accessory Protein) 2
  • Protein Phosphatase 1, Regulatory Subunit 89 3
  • Mental Retardation, X-Linked 3 2
  • VP16 Accessory Protein 4
  • Protein Phosphatase 1 2
  • Regulatory Subunit 89 2
  • Host Cell Factor 1 3
  • C1 Factor 4
  • PPP1R89 3

External Ids for HCFC1 Gene

Previous Symbols for HCFC1 Gene

  • HFC1
  • MRX3

Summaries for HCFC1 Gene

Entrez Gene Summary for HCFC1 Gene

  • This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for HCFC1 Gene

HCFC1 (Host Cell Factor C1) is a Protein Coding gene. Diseases associated with HCFC1 include mental retardation, x-linked 3 and methylmalonic acidemia with homocystinuria, type cblx. Among its related pathways are Influenza A and RNA Polymerase I Promoter Opening. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is KLHDC1.

UniProtKB/Swiss-Prot for HCFC1 Gene

  • Involved in control of the cell cycle. Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300. Coactivator for EGR2 and GABP2. Tethers the chromatin modifying Set1/Ash2 histone H3 Lys-4 methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. In case of human herpes simplex virus (HSV) infection, HCFC1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and POU2F1 thereby enabling the transcription of the viral immediate early genes.

Gene Wiki entry for HCFC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HCFC1 Gene

Genomics for HCFC1 Gene

Genomic Location for HCFC1 Gene

Start:
153,947,553 bp from pter
End:
153,971,833 bp from pter
Size:
24,281 bases
Orientation:
Minus strand

Genomic View for HCFC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HCFC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HCFC1 Gene

Regulatory Elements for HCFC1 Gene

Proteins for HCFC1 Gene

  • Protein details for HCFC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51610-HCFC1_HUMAN
    Recommended name:
    Host cell factor 1
    Protein Accession:
    P51610
    Secondary Accessions:
    • Q6P4G5

    Protein attributes for HCFC1 Gene

    Size:
    2035 amino acids
    Molecular mass:
    208732 Da
    Quaternary structure:
    • Composed predominantly of six polypeptides ranging from 110 to 150 kDa and a minor 300 kDa polypeptide. The majority of N- and C-terminal cleavage products remain tightly, albeit non-covalently, associated. Interacts with POU2F1, CREB3, ZBTB17, EGR2, E2F4, CREBZF, SP1, GABP2, Sin3 HDAC complex (SIN3A, HDAC1, HDAC2, SUDS3), SAP30, SIN3B and FHL2. Component of a MLL1 complex, composed of at least the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, DPY30, E2F6, HCFC2, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, KAT8, PELP1, PHF20, PRP31, RING2, RUVBL1, RUVBL2, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the MLL5-L complex, composed of at least KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. Interacts directly with OGT; the interaction, which requires the HCFC1 cleavage site domain, glycosylates and promotes the proteolytic processing of HCFC1, retains OGT in the nucleus and impacts the expression of herpes simplex virus immediate early viral genes. Interacts with TET2 and TET3. Interacts directly with THAP3 (via its HBM). Interacts (via the Kelch-repeat domain) with THAP1 (via the HBM); the interaction recruits HCHC1 to the RRM1. Interacts with HCFC1R1 and THAP11. Associates with the VP16-induced complex; binding to HCFC1 activates the viral transcriptional activator VP16 for association with POU2F1, to form a multiprotein-DNA complex responsible for activating transcription of the viral immediate early genes. Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L, CXXC1, HCFC1 and DPY30. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with the viral transactivator protein VP16. Part of a complex composed at least of ASCL2, C11orf30/EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity (By similarity).
    SequenceCaution:
    • Sequence=CAA55790.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HCFC1 Gene

    Alternative splice isoforms for HCFC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HCFC1 Gene

Proteomics data for HCFC1 Gene at MOPED

Post-translational modifications for HCFC1 Gene

  • O-glycosylated. GlcNAcylation by OGT promotes proteolytic processing.
  • Proteolytically cleaved at one or several PPCE--THET sites within the HCF repeats. Further cleavage of the primary N- and C-terminal chains results in a trimming and accumulation of the smaller chains. Cleavage is promoted by O-glycosylation.
  • Ubiquitinated. Lys-1807 and Lys-1808 are ubiquitinated both via Lys-48- and Lys-63-linked polyubiquitin chains. BAP1 mediated deubiquitination of Lys-48-linked polyubiquitin chains; deubiquitination by BAP1 does not seem to stabilize the protein.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys105, Lys148, Lys163, Lys244, Lys363, Lys665, Lys690, Lys713, Lys813, Lys836, Lys1163, Lys1217, Lys1807, Lys1808, Lys1863, Lys1901, and Lys1976

Other Protein References for HCFC1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HCFC1 Gene

Domains for HCFC1 Gene

Protein Domains for HCFC1 Gene

UniProtKB/Swiss-Prot:

HCFC1_HUMAN
Domain:
  • The HCF repeat is a highly specific proteolytic cleavage signal.:
    • P51610
  • The kelch repeats fold into a 6-bladed kelch beta-propeller called the beta-propeller domain which mediates interaction with HCFC1R1.:
    • P51610
  • Contains 3 fibronectin type-III domains.:
    • P51610
Similarity:
  • Contains 5 Kelch repeats.:
    • P51610
genes like me logo Genes that share domains with HCFC1: view

No data available for Gene Families for HCFC1 Gene

Function for HCFC1 Gene

Molecular function for HCFC1 Gene

GENATLAS Biochemistry: host cell factor 1,binding herpes simplex virus acidic transactivator protein VP 16
UniProtKB/Swiss-Prot Function: Involved in control of the cell cycle. Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300. Coactivator for EGR2 and GABP2. Tethers the chromatin modifying Set1/Ash2 histone H3 Lys-4 methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. In case of human herpes simplex virus (HSV) infection, HCFC1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and POU2F1 thereby enabling the transcription of the viral immediate early genes.

Gene Ontology (GO) - Molecular Function for HCFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001205 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003682 chromatin binding IDA 21285374
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 8392914
GO:0003713 transcription coactivator activity IMP 10675337
GO:0005515 protein binding IPI 10629049
genes like me logo Genes that share ontologies with HCFC1: view
genes like me logo Genes that share phenotypes with HCFC1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for HCFC1 Gene

Localization for HCFC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HCFC1 Gene

Cytoplasm. Nucleus. Note=HCFC1R1 modulates its subcellular localization and overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. Nuclear in general, but uniquely cytoplasmic in trigeminal ganglia, becoming nuclear upon HSV reactivation from the latent state. Non-processed HCFC1 associates with chromatin. Colocalizes with CREB3 and CANX in the ER.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HCFC1 Gene COMPARTMENTS Subcellular localization image for HCFC1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HCFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 20018852
GO:0005634 nucleus IDA 10623756
GO:0005654 nucleoplasm TAS --
GO:0005671 colocalizes_with Ada2/Gcn5/Ada3 transcription activator complex IDA 18838386
GO:0005737 cytoplasm IDA 10623756
genes like me logo Genes that share ontologies with HCFC1: view

Pathways for HCFC1 Gene

genes like me logo Genes that share pathways with HCFC1: view

Pathways by source for HCFC1 Gene

1 BioSystems pathway for HCFC1 Gene
1 KEGG pathway for HCFC1 Gene

Gene Ontology (GO) - Biological Process for HCFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0006325 chromatin organization TAS --
GO:0006355 regulation of transcription, DNA-templated IDA 12670868
GO:0006366 transcription from RNA polymerase II promoter TAS 8392914
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with HCFC1: view

Compounds for HCFC1 Gene

(3) Novoseek inferred chemical compound relationships for HCFC1 Gene

Compound -log(P) Hits PubMed IDs
tetrapeptide 45.5 3
zinc 9.22 2
leucine 1.21 1
genes like me logo Genes that share compounds with HCFC1: view

Transcripts for HCFC1 Gene

Unigene Clusters for HCFC1 Gene

Host cell factor C1 (VP16-accessory protein):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HCFC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c · 21d ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for HCFC1 Gene

GeneLoc Exon Structure for
HCFC1
ECgene alternative splicing isoforms for
HCFC1

Expression for HCFC1 Gene

mRNA expression in normal human tissues for HCFC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HCFC1 Gene

SOURCE GeneReport for Unigene cluster for HCFC1 Gene Hs.83634

mRNA Expression by UniProt/SwissProt for HCFC1 Gene

P51610-HCFC1_HUMAN
Tissue specificity: Highly expressed in fetal tissues and the adult kidney. Present in all tissues tested.
genes like me logo Genes that share expressions with HCFC1: view

Orthologs for HCFC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HCFC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HCFC1 36
  • 99.61 (n)
  • 99.75 (a)
HCFC1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HCFC1 36
  • 87.46 (n)
  • 93.33 (a)
HCFC1 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HCFC1 36
  • 89.69 (n)
  • 95.13 (a)
HCFC1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hcfc1 36
  • 86.52 (n)
  • 94.05 (a)
Hcfc1 16
Hcfc1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HCFC1 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HCFC1 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hcfc1 36
  • 86.34 (n)
  • 94.01 (a)
lizard
(Anolis carolinensis)
Reptilia HCFC1 37
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7103 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5114 36
zebrafish
(Danio rerio)
Actinopterygii hcfc1a 37
  • 71 (a)
OneToMany
hcfc1b 36
  • 65.15 (n)
  • 69.9 (a)
hcfc1b 37
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Hcf 37
  • 37 (a)
OneToOne
Hcf 38
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea hcf-1 36
  • 52.84 (n)
  • 52.25 (a)
hcf-1 37
  • 46 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3189 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9386 37
  • 60 (a)
OneToOne
Species with no ortholog for HCFC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HCFC1 Gene

ENSEMBL:
Gene Tree for HCFC1 (if available)
TreeFam:
Gene Tree for HCFC1 (if available)

Paralogs for HCFC1 Gene

Paralogs for HCFC1 Gene

Selected SIMAP similar genes for HCFC1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with HCFC1: view

Variants for HCFC1 Gene

Sequence variations from dbSNP and Humsavar for HCFC1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs632 -- 153,961,020(-) GCACC(A/G)TCTCC intron-variant
rs17421 -- 153,960,183(-) CTTCT(C/G)ACCAA intron-variant
rs17422 -- 153,961,975(+) CGCCC(A/C/G/T)ATCAG intron-variant
rs730106 other 153,956,206(+) ATGGT(C/T)GGGGT reference, synonymous-codon
rs762653 -- 153,953,469(+) CCGAG(A/G)CTGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HCFC1 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
nsv469867 CNV Complex 16826518
esv2740634 CNV Deletion 23290073
esv33784 CNV Gain+Loss 17666407

Relevant External Links for HCFC1 Gene

HapMap Linkage Disequilibrium report
HCFC1
Human Gene Mutation Database (HGMD)
HCFC1
Locus Specific Mutation Databases (LSDB)
HCFC1

Disorders for HCFC1 Gene

(1) OMIM Diseases for HCFC1 Gene (300019)

UniProtKB/Swiss-Prot

HCFC1_HUMAN
  • Mental retardation, X-linked 3 (MRX3) [MIM:309541]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:23000143}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for HCFC1 Gene

Disease -log(P) Hits PubMed IDs
herpes simplex 81.6 34
dengue 45.2 2
leukemia 11.1 3
virus infection 0 2

Relevant External Links for HCFC1

Genetic Association Database (GAD)
HCFC1
Human Genome Epidemiology (HuGE) Navigator
HCFC1
genes like me logo Genes that share disorders with HCFC1: view

Publications for HCFC1 Gene

  1. The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein. (PMID: 8392914) Wilson A.C. … Herr W. (Cell 1993) 2 3 4 23
  2. Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28. (PMID: 7829097) Frattini A. … Vezzoni P. (Genomics 1994) 3 4 23
  3. Luman, a new member of the CREB/ATF family, binds to herpes simplex virus VP16-associated host cellular factor. (PMID: 9271389) Lu R. … Misra V. (Mol. Cell. Biol. 1997) 3 4 23
  4. Viral mimicry: common mode of association with HCF by VP16 and the cellular protein LZIP. (PMID: 9389645) Freiman R.N. … Herr W. (Genes Dev. 1997) 3 4 23
  5. Mutations in host cell factor 1 separate its role in cell proliferation from recruitment of VP16 and LZIP. (PMID: 10629049) Mahajan S.S. … Wilson A.C. (Mol. Cell. Biol. 2000) 3 4 23

Products for HCFC1 Gene

Sources for HCFC1 Gene

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