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HCFC1 Gene

protein-coding   GIFtS: 66
GCID: GC0XM153213

Host Cell Factor C1 (VP16-Accessory Protein)

(Previous names: mental retardation, X-linked 3)
(Previous symbols: HFC1, MRX3)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Host Cell Factor C1 (VP16-Accessory Protein)1 2     HCF-12 3
HFC11 2 3     VCAF2 3
MRX31 2 5     C1 Factor2 3
HCF12 3 5     VP16 Accessory Protein2 3
CFF2 3     Mental Retardation, X-Linked 31
HCF2 3     Host Cell Factor 12

External Ids:    HGNC: 48391   Entrez Gene: 30542   Ensembl: ENSG000001725347   OMIM: 3000195   UniProtKB: P516103   

Export aliases for HCFC1 gene to outside databases

Previous GC identifers: GC0XM147350 GC0XM149667 GC0XM150798 GC0XM151680 GC0XM152733 GC0XM152866 GC0XM141865


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (VP16-accessory protein)) is a protein-coding gene. Diseases associated with HCFC1 include herpes simplex, and mental retardation, x-linked 3. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is KLHDC2.

UniProtKB/Swiss-Prot: HCFC1_HUMAN, P51610
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 Wiki entry for HCFC1 (Host cell factor C1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HCFC1 gene promoter:
         SRY   CBF-B   CBF-A   Sp1   CP1A   CBF(2)   CBF-C   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): HCFC1 promoter sequence
   Search Chromatin IP Primers for HCFC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HCFC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

HCFC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCFC1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM153213:  view genomic region     (about GC identifiers)

Start:
153,213,004 bp from pter      End:
153,237,258 bp from pter
Size:
24,255 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HCFC1_HUMAN, P51610 (See protein sequence)
Recommended Name: Host cell factor 1  
Size: 2035 amino acids; 208732 Da
Subunit: 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)
Sequence caution: Sequence=CAA55790.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
5 PDB 3D structures from and Proteopedia for HCFC1:
4GO6 (3D)        4N39 (3D)        4N3A (3D)        4N3B (3D)        4N3C (3D)    
Secondary accessions: Q6P4G5
Alternative splicing: 4 isoforms:  P51610-1   P51610-2   P51610-3   P51610-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HCFC1: NX_P51610

Explore proteomics data for HCFC1 at MOPED

Post-translational modifications: 

  • 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-glycosylation1
  • O-glycosylated. GlcNAcylation by OGT promotes proteolytic processing1
  • 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 protein1
  • Ubiquitination2 at Lys105, Lys148, Lys163, Lys244, Lys363, Lys665, Lys690, Lys713, Lys813, Lys836,
                                 Lys1163, Lys1217, Lys1807, Lys1808, Lys1863, Lys1901, Lys1976
  • Modification sites at PhosphoSitePlus

  • See HCFC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005325.2  
    ENSEMBL proteins: 
     ENSP00000309555   ENSP00000399589   ENSP00000359001   ENSP00000346174  
    Reactome Protein details: P51610

    HCFC1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Cloud-Clone Corp. Proteins for HCFC1

    HCFC1 Antibody Products:

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    HCFC1 Assay Products:

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    Cloud-Clone Corp. ELISAs for HCFC1
    Cloud-Clone Corp. CLIAs for HCFC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR006652 Kelch_1
     IPR015916 Gal_Oxidase_b-propeller
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry P51610

    ProtoNet protein and cluster: P51610

    1 Blocks protein domain: IPB011498 Kelch

    UniProtKB/Swiss-Prot: HCFC1_HUMAN, P51610
    Domain: The HCF repeat is a highly specific proteolytic cleavage signal
    Domain: The kelch repeats fold into a 6-bladed kelch beta-propeller called the beta-propeller domain which
    mediates interaction with HCFC1R1
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 5 Kelch repeats


    HCFC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HCFC1_HUMAN, P51610
    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

         Genatlas biochemistry entry for HCFC1:
    host cell factor 1,binding herpes simplex virus acidic transactivator protein VP 16

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS8392914
    GO:0003713transcription coactivator activity IMP10675337
    GO:0005515protein binding IPI10629049
    GO:0042802identical protein binding IPI12670868
         
    HCFC1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for HCFC1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased cell number in G1, s 
     Increased circadian period len  Synthetic lethal with paclitax 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HCFC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HCFC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HCFC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HCFC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HCFC1:
    hsa-mir-193b-3p (MIRT041503), hsa-mir-615-3p (MIRT040355), hsa-mir-23a-3p (MIRT050444), hsa-mir-484 (MIRT041883), hsa-mir-1296-5p (MIRT036089), hsa-mir-222-3p (MIRT046582), hsa-let-7b-5p (MIRT052040), hsa-mir-92a-3p (MIRT049708), hsa-mir-149-5p (MIRT045650), hsa-mir-183-5p (MIRT047097)

    Block miRNA regulation of human, mouse, rat HCFC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HCFC1 (see all 35):
    hsa-miR-607 hsa-miR-374a hsa-miR-3921 hsa-miR-218 hsa-miR-105 hsa-miR-374c hsa-miR-3613-3p hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidHCFC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HCFC1
    Predesigned siRNA for gene silencing in human, mouse, rat HCFC1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: HCFC1 (NM_005334)
    Sino Biological Human cDNA Clone for HCFC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HCFC1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HCFC1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCFC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HCFC1_HUMAN, P51610: 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: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000123histone acetyltransferase complex IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005671colocalizes with Ada2/Gcn5/Ada3 transcription activator complex IDA18838386
    GO:0005730NOT nucleolus IDA--

    HCFC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HCFC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Influenza A
    Herpes simplex infection0.33
    3Mitochondrial Gene Expression
    Mitochondrial Gene Expression

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HCFC1
        Mitochondrial Gene Expression


    2 Reactome Pathways for HCFC1
        HATs acetylate histones
    Transcriptional activation of mitochondrial biogenesis


    1 Kegg Pathway  (Kegg details for HCFC1):
        Herpes simplex infection


    HCFC1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HCFC1
    Interactions:

        GeneGlobe Interaction Network for HCFC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HCFC1 (P516101, 3 ENSP000003095554) via UniProtKB, MINT, STRING, and/or I2D (see all 172)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=2 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=2 
    ENSG00000215328P081073I2D: score=2 
    ENSG00000224501P081073I2D: score=2 
    ENSG00000231555P081073I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006325chromatin organization TAS--
    GO:0006355regulation of transcription, DNA-templated IDA12670868
    GO:0006366transcription from RNA polymerase II promoter TAS8392914
    GO:0007049cell cycle IEA--

    HCFC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HCFC1

    3 Novoseek inferred chemical compound relationships for HCFC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tetrapeptide 45.5 4 12235138 (1), 16633736 (1), 10629049 (1)
    zinc 9.22 2 14532282 (2)
    leucine 1.21 1 9658067 (1)



    HCFC1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HCFC1 gene: 
    NM_005334.2  

    Unigene Cluster for HCFC1:

    Host cell factor C1 (VP16-accessory protein)
    Hs.83634  [show with all ESTs]
    Unigene Representative Sequence: NM_005334
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310441(uc004fjp.3) ENST00000444191 ENST00000369984 ENST00000461098
    ENST00000354233
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HCFC1 (see all 35):
    hsa-miR-607 hsa-miR-374a hsa-miR-3921 hsa-miR-218 hsa-miR-105 hsa-miR-374c hsa-miR-3613-3p hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidHCFC1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat HCFC1

    Additional mRNA sequence: 

    BC010606.1 BC019887.1 BC030560.1 BC063435.1 BC128530.1 DQ655939.2 L20010.1 

    10 DOTS entries:

    DT.100863360  DT.95297621  DT.101966970  DT.75127210  DT.97846713  DT.100732562  DT.95192283  DT.95237996 
    DT.75160807  DT.95254775 

    Selected AceView cDNA sequences (see all 289):

    AA595035 AI248421 AI634433 BQ218739 BE513966 BF810933 BX363034 BC019887 
    BU684010 AL046693 AI916867 AI076566 BM141932 L20010 BQ228663 BM722759 
    BM905814 AI360118 BU616283 BM670200 W73732 BM479634 AI597756 AI619945 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HCFC1 (see all 10)    About this scheme

    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:                                                                                                                                                            

    ExUns: 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for HCFC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    HCFC1 expression in normal human tissues (normalized intensities)      HCFC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACTCAGGC
    HCFC1 Expression
    About this image


    HCFC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             Septum   
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Lymph (Hematopoietic System)
    HCFC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HCFC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.83634

    UniProtKB/Swiss-Prot: HCFC1_HUMAN, P51610
    Tissue specificity: Highly expressed in fetal tissues and the adult kidney. Present in all tissues tested

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HCFC1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hcfc11 , 5 host cell factor C11, 5 86.52(n)1
    94.05(a)1
      X (37.52 cM)5
    151611  NM_008224.31  NP_032250.21 
     739427925 
    lizard
    (Anolis carolinensis)
    Reptilia HCFC16
    host cell factor C1 (VP16-accessory protein)
    73(a)
    1 ↔ 1
    2(88372946-88399784)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.71032 Transcribed sequence with moderate similarity to protein more 80.27(n)    AL889688.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hcfc1b1 host cell factor C1b 65.15(n)
    69.9(a)
      565206  NM_001128537.1  NP_001122009.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hcf3 transcription factor 53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hcf-11 hcf-1 52.84(n)
    52.25(a)
      177560  NM_068878.4  NP_501279.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HCFC1 gene
    KLHDC22  KLHDC32  KLHDC12  LZTR12  RABEPK2  KLHDC102  HCFC22  
    1 SIMAP similar gene for HCFC1 using alignment to 4 protein entries:     HCFC1_HUMAN (see all proteins):
    HCFC2

    HCFC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HCFC1 (see all 542)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491931741,2
    C--141865088(+) AGGTGC/TGCCAG 1 -- ds50010--------
    rs30278711,2
    C,F,H--141865157(+) GCTCCG/AGCCAC 1 -- ds50016Minor allele frequency- A:0.13NS EA NA 420
    rs1828427021,2
    --141891225(+) CGAGAC/TCCGGA 1 -- us2k10--------
    rs1878569961,2
    --141891302(+) AGGGAA/GTTCAG 1 -- us2k10--------
    rs1383088981,2
    C--141891514(+) GGAGCA/GGGGGA 1 -- us2k10--------
    rs113865261,2
    C--153080622(+) TTCCC-/CTTGGG 1 -- ds50010--------
    rs2013465811,2
    C--153080625(+) TTCCCC/TTGGGG 1 -- ds50010--------
    rs2019308331,2
    C--153080627(+) CCCTTG/TGGGGC 1 -- ds50010--------
    rs1928691201,2
    --153080749(+) GACCTC/GCCAGG 1 -- ds50010--------
    rs1852563941,2
    --153080812(+) CCCCAA/GACACA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for HCFC1 (153213004 - 153237258 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HCFC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740634CNV Deletion23290073
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407
    nsv469867CNV Complex16826518

    Human Gene Mutation Database (HGMD): HCFC1
    Locus Specific Mutation Databases (LSDB): HCFC1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300019   
    OMIM disorders: 309541  
    UniProtKB/Swiss-Prot: HCFC1_HUMAN, P51610
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for HCFC1:    About MalaCards
    herpes simplex    mental retardation, x-linked 3    chickenpox    mental retardation, x-linked 17/31, microduplication
    meniere's disease    menieres disease    malignant pleural mesothelioma    dengue hemorrhagic fever
    hemorrhagic fever    intellectual disability    mental retardation, x-linked    mental retardation
    renal cell carcinoma    multiple myeloma    myeloma    leukemia
    cerebritis    neuronitis


    HCFC1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for HCFC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    herpes simplex 81.6 40 12456665 (2), 16042417 (2), 12271126 (2), 15190068 (2) (see all 30)
    dengue 45.2 4 9649218 (1), 11335136 (1)
    leukemia 11.1 3 17698583 (2), 17612494 (1)
    virus infection 0 3 12456665 (1), 11335136 (1)

    Genetic Association Database (GAD): HCFC1
    Human Genome Epidemiology (HuGE) Navigator: HCFC1 (4 documents)

    Export disorders for HCFC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for HCFC1 gene, integrated from 10 sources (see all 173):
    (articles sorted by number of sources associating them with HCFC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein. (PubMed id 8392914)1, 2, 3, 9 Wilson A.C.... Herr W. (Cell 1993)
    2. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. (PubMed id 23000143)1, 2, 3 Huang L.... Gecz J. (Am. J. Hum. Genet. 2012)
    3. The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. (PubMed id 20200153)1, 2, 9 Mazars R.... Girard J.P. (J. Biol. Chem. 2010)
    4. Zhangfei is a potent and specific inhibitor of the host cell factor- binding transcription factor Luman. (PubMed id 15705566)1, 2, 9 Misra V.... Korchinski P. (J. Biol. Chem. 2005)
    5. Host cell factor-1 interacts with and antagonizes transactivation by the cell cycle regulatory factor Miz-1. (PubMed id 12244100)1, 2, 9 Piluso D.... Capone J.P. (J. Biol. Chem. 2002)
    6. Interaction of HCF-1 with a cellular nuclear export factor. (PubMed id 12235138)1, 2, 9 Mahajan S.S.... Wilson A.C. (J. Biol. Chem. 2002)
    7. HCF-1 functions as a coactivator for the zinc finger protein Krox20. (PubMed id 14532282)1, 2, 9 Luciano R.L. and Wilson A.C. (J. Biol. Chem. 2003)
    8. Zhangfei: a second cellular protein interacts with herpes simplex virus accessory factor HCF in a manner similar to Luman and VP16. (PubMed id 10871379)1, 2, 9 Lu R. and Misra V. (Nucleic Acids Res. 2000)
    9. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. (PubMed id 19815555)1, 2, 9 Machida Y.J.... Dutta A. (J. Biol. Chem. 2009)
    10. Site-specific proteolysis of the transcriptional coactivator HCF-1 can regulate its interaction with protein cofactors. (PubMed id 16624878)1, 2, 9 Vogel J.L. and Kristie T.M. (Proc. Natl. Acad. Sci. U.S.A. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3054 HGNC: 4839 AceView: HCFC1 Ensembl:ENSG00000172534 euGenes: HUgn3054
    ECgene: HCFC1 Kegg: 3054 H-InvDB: HCFC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HCFC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HCFC1 gene:
    Search GeneIP for patents involving HCFC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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