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HCFC1 (host cell factor C1)

Identity

Alias_namesHFC1
MRX3
mental retardation, X-linked 3
host cell factor C1 (VP16-accessory protein)
Alias_symbol (synonym)HCF-1
HCF1
CFF
VCAF
MGC70925
PPP1R89
Other aliasHCF
HGNC (Hugo) HCFC1
LocusID (NCBI) 3054
Atlas_Id 43736
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 153947557 and ends at 153971368 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HCFC1 (Xq28) / ARHGAP35 (19q13.32)HCFC1 (Xq28) / HCFC1 (Xq28)HCFC1 (Xq28) / MECP2 (Xq28)
HCFC1 (Xq28) / MRFAP1 (4p16.1)HCFC1 (Xq28) / VGLL1 (Xq26.3)MYO1E (15q22.2) / HCFC1 (Xq28)
PNCK (Xq28) / HCFC1 (Xq28)SELENBP1 (1q21.3) / HCFC1 (Xq28)HCFC1 Xq28 / MECP2 Xq28
HCFC1 Xq28 / MRFAP1 4p16.1PNCK Xq28 / HCFC1 Xq28

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Skin: Spitz tumors


External links

Nomenclature
HGNC (Hugo)HCFC1   4839
Cards
Entrez_Gene (NCBI)HCFC1  3054  host cell factor C1
AliasesCFF; HCF; HCF-1; HCF1; 
HFC1; MRX3; PPP1R89; VCAF
GeneCards (Weizmann)HCFC1
Ensembl hg19 (Hinxton)ENSG00000172534 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172534 [Gene_View]  chrX:153947557-153971368 [Contig_View]  HCFC1 [Vega]
ICGC DataPortalENSG00000172534
TCGA cBioPortalHCFC1
AceView (NCBI)HCFC1
Genatlas (Paris)HCFC1
WikiGenes3054
SOURCE (Princeton)HCFC1
Genetics Home Reference (NIH)HCFC1
Genomic and cartography
GoldenPath hg38 (UCSC)HCFC1  -     chrX:153947557-153971368 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HCFC1  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblHCFC1 - Xq28 [CytoView hg19]  HCFC1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIHCFC1 [Mapview hg19]  HCFC1 [Mapview hg38]
OMIM300019   309541   
Gene and transcription
Genbank (Entrez)BC010606 BC019887 BC030560 BC063435 DQ655939
RefSeq transcript (Entrez)NM_005334
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HCFC1
Cluster EST : UnigeneHs.83634 [ NCBI ]
CGAP (NCI)Hs.83634
Alternative Splicing GalleryENSG00000172534
Gene ExpressionHCFC1 [ NCBI-GEO ]   HCFC1 [ EBI - ARRAY_EXPRESS ]   HCFC1 [ SEEK ]   HCFC1 [ MEM ]
Gene Expression Viewer (FireBrowse)HCFC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3054
GTEX Portal (Tissue expression)HCFC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51610   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51610  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51610
Splice isoforms : SwissVarP51610
PhosPhoSitePlusP51610
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)   
Domains : Interpro (EBI)FN3_dom    Gal_Oxidase_b-propeller    Ig-like_fold    Kelch-typ_b-propeller    Kelch_1   
Domain families : Pfam (Sanger)Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam01344   
Domain families : Smart (EMBL)FN3 (SM00060)  
Conserved Domain (NCBI)HCFC1
DMDM Disease mutations3054
Blocks (Seattle)HCFC1
PDB (SRS)4GO6    4N39    4N3A    4N3B    4N3C   
PDB (PDBSum)4GO6    4N39    4N3A    4N3B    4N3C   
PDB (IMB)4GO6    4N39    4N3A    4N3B    4N3C   
PDB (RSDB)4GO6    4N39    4N3A    4N3B    4N3C   
Structural Biology KnowledgeBase4GO6    4N39    4N3A    4N3B    4N3C   
SCOP (Structural Classification of Proteins)4GO6    4N39    4N3A    4N3B    4N3C   
CATH (Classification of proteins structures)4GO6    4N39    4N3A    4N3B    4N3C   
SuperfamilyP51610
Human Protein AtlasENSG00000172534
Peptide AtlasP51610
HPRD02061
IPIIPI00019848   IPI00219326   IPI00847789   IPI00641743   
Protein Interaction databases
DIP (DOE-UCLA)P51610
IntAct (EBI)P51610
FunCoupENSG00000172534
BioGRIDHCFC1
STRING (EMBL)HCFC1
ZODIACHCFC1
Ontologies - Pathways
QuickGOP51610
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  histone acetyltransferase complex  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  Ada2/Gcn5/Ada3 transcription activator complex  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  mitochondrion organization  cell cycle  positive regulation of gene expression  membrane  protein deubiquitination  release from viral latency  axon  dendrite  activating transcription factor binding  identical protein binding  neuronal cell body  regulation of protein complex assembly  histone H4-K5 acetylation  histone H4-K8 acetylation  histone H4-K16 acetylation  histone acetyltransferase activity (H4-K5 specific)  histone acetyltransferase activity (H4-K8 specific)  cadherin binding  positive regulation of cell cycle  positive regulation of transcription from RNA polymerase II promoter  histone acetyltransferase activity (H4-K16 specific)  Set1C/COMPASS complex  protein stabilization  SAGA-type complex  MLL1 complex  cellular response to organic cyclic compound  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  histone acetyltransferase complex  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  Ada2/Gcn5/Ada3 transcription activator complex  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  mitochondrion organization  cell cycle  positive regulation of gene expression  membrane  protein deubiquitination  release from viral latency  axon  dendrite  activating transcription factor binding  identical protein binding  neuronal cell body  regulation of protein complex assembly  histone H4-K5 acetylation  histone H4-K8 acetylation  histone H4-K16 acetylation  histone acetyltransferase activity (H4-K5 specific)  histone acetyltransferase activity (H4-K8 specific)  cadherin binding  positive regulation of cell cycle  positive regulation of transcription from RNA polymerase II promoter  histone acetyltransferase activity (H4-K16 specific)  Set1C/COMPASS complex  protein stabilization  SAGA-type complex  MLL1 complex  cellular response to organic cyclic compound  
Pathways : KEGGHerpes simplex infection   
NDEx NetworkHCFC1
Atlas of Cancer Signalling NetworkHCFC1
Wikipedia pathwaysHCFC1
Orthology - Evolution
OrthoDB3054
GeneTree (enSembl)ENSG00000172534
Phylogenetic Trees/Animal Genes : TreeFamHCFC1
HOVERGENP51610
HOGENOMP51610
Homologs : HomoloGeneHCFC1
Homology/Alignments : Family Browser (UCSC)HCFC1
Gene fusions - Rearrangements
Fusion : MitelmanHCFC1/MRFAP1 [Xq28/4p16.1]  
Fusion: TCGAHCFC1 Xq28 MECP2 Xq28 BRCA
Fusion: TCGAHCFC1 Xq28 MRFAP1 4p16.1 SKCM
Fusion: TCGAPNCK Xq28 HCFC1 Xq28 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHCFC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HCFC1
dbVarHCFC1
ClinVarHCFC1
1000_GenomesHCFC1 
Exome Variant ServerHCFC1
ExAC (Exome Aggregation Consortium)HCFC1 (select the gene name)
Genetic variants : HAPMAP3054
Genomic Variants (DGV)HCFC1 [DGVbeta]
DECIPHERHCFC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHCFC1 
Mutations
ICGC Data PortalHCFC1 
TCGA Data PortalHCFC1 
Broad Tumor PortalHCFC1
OASIS PortalHCFC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHCFC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHCFC1
intOGen PortalHCFC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch HCFC1
DgiDB (Drug Gene Interaction Database)HCFC1
DoCM (Curated mutations)HCFC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HCFC1 (select a term)
intoGenHCFC1
Cancer3DHCFC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300019    309541   
Orphanet3256    22454   
MedgenHCFC1
Genetic Testing Registry HCFC1
NextProtP51610 [Medical]
TSGene3054
GENETestsHCFC1
Target ValidationHCFC1
Huge Navigator HCFC1 [HugePedia]
snp3D : Map Gene to Disease3054
BioCentury BCIQHCFC1
ClinGenHCFC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3054
Chemical/Pharm GKB GenePA29215
Clinical trialHCFC1
Miscellaneous
canSAR (ICR)HCFC1 (select the gene name)
Probes
Litterature
PubMed145 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHCFC1
EVEXHCFC1
GoPubMedHCFC1
iHOPHCFC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:02:46 CEST 2017

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