Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HCFC1 Gene

Aliases for HCFC1 Gene

  • Host Cell Factor C1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 89 2 3
  • VP16-Accessory Protein 2 3
  • HCF-1 3 4
  • HFC1 3 4
  • HCF1 3 4
  • VCAF 3 4
  • CFF 3 4
  • HCF 3 4
  • Host Cell Factor C1 (VP16-Accessory Protein) 2
  • Mental Retardation, X-Linked 3 2
  • VP16 Accessory Protein 4
  • Host Cell Factor 1 3
  • C1 Factor 4
  • PPP1R89 3
  • MRX3 3

External Ids for HCFC1 Gene

Previous HGNC Symbols for HCFC1 Gene

  • HFC1
  • MRX3

Previous GeneCards Identifiers for HCFC1 Gene

  • GC0XM147350
  • GC0XM149667
  • GC0XM150798
  • GC0XM151680
  • GC0XM152733
  • GC0XM152866
  • GC0XM153213
  • GC0XM141865

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 Intellectual Disability. Among its related pathways are Chromatin organization and Mitochondrial Gene Expression. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is HCFC2.

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

Regulatory Elements for HCFC1 Gene

Enhancers for HCFC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF153383 1 FANTOM5 36.9 +588.4 588427 0.3 ZNF493 ZNF266 ZNF140 ZNF488 MNT ZNF645 ZNF670 PRDM2 ZNF155 ZNF791 HCFC1 MAGEA1 ENSG00000234200 MAGEA6 MAGEA2B EMD MAGEA3 LOC105373383 PNMA6B SLC6A8
GH0XF154001 1.3 Ensembl ENCODE 26.4 -30.7 -30668 2.6 ATF1 PKNOX1 YY1 ZNF121 ELK1 KLF13 REST CREB3 MEF2D PBX2 HCFC1 TMEM187 HCFC1-AS1 IRAK1 EMD PLXNA3 MIR718 MIR3202-2
GH0XF154246 0.5 Ensembl 26 -276.1 -276068 3.4 ZNF335 GLIS2 EGR2 ZNF680 YY2 ZNF488 ZNF645 ZFP41 ZNF658 MYNN HCFC1 SNORA70 LOC105373387 EMD ENSG00000261773 LOC105373383 PLXNA3 FAM3A LOC102030688 OPN1MW2
GH0XF154122 1 FANTOM5 Ensembl ENCODE 25.7 -152.2 -152168 4.4 PKNOX1 ATF1 ARNT FEZF1 ELK1 GATA2 ZNF202 NCOA1 SMARCB1 MBD2 HCFC1 SNORA56 TMEM187 SNORA70 PLXNA3 RENBP MECP2 ARHGAP4 IKBKG PIR60620
GH0XF154038 1.2 FANTOM5 Ensembl ENCODE 23.9 -71.5 -71471 9.2 ZNF133 FEZF1 RAD21 ZNF121 GATA2 SCRT2 FOS EGR2 CEBPB NR2F2 TMEM187 HCFC1 MIR718 HCFC1-AS1 PLXNA3 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HCFC1 on UCSC Golden Path with GeneCards custom track

Promoters for HCFC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000661549 533 5401 HDGF PKNOX1 CREB3L1 ZFP64 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for HCFC1 Gene

Chromosome:
X
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

Genes around HCFC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HCFC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HCFC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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, 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

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.
  • Ubiquitination at Lys 105, Lys 148, Lys 163, Lys 244, Lys 363, Lys 690, Lys 713, Lys 813, Lys 836, Lys 1163, Lys 1217, Lys 1807, Lys 1808, Lys 1863, Lys 1901, and Lys 1976
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for HCFC1 (Host Cell Factor 1/HCFC1)
  • Cell Signaling Technology (CST) Antibodies for HCFC1 (HCFC1)
  • Cloud-Clone Corp. Antibodies for HCFC1
  • Santa Cruz Biotechnology (SCBT) Antibodies for HCFC1

No data available for DME Specific Peptides for HCFC1 Gene

Domains & Families for HCFC1 Gene

Protein Domains for HCFC1 Gene

Suggested Antigen Peptide Sequences for HCFC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51610

UniProtKB/Swiss-Prot:

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

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 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003682 chromatin binding IDA 21285374
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 8392914
GO:0003713 transcription coactivator activity IMP 10675337
GO:0005515 protein binding IPI 9271389
genes like me logo Genes that share ontologies with HCFC1: view
genes like me logo Genes that share phenotypes with HCFC1: view

Human Phenotype Ontology for HCFC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HCFC1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
mitochondrion 5
nucleus 5
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 IEA,IDA 7876203
GO:0005654 nucleoplasm TAS --
GO:0005671 colocalizes_with Ada2/Gcn5/Ada3 transcription activator complex IDA 18838386
GO:0005737 cytoplasm IEA,IDA 10623756
genes like me logo Genes that share ontologies with HCFC1: view

Pathways & Interactions for HCFC1 Gene

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

Pathways by source for HCFC1 Gene

2 Cell Signaling Technology pathways for HCFC1 Gene
1 BioSystems 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:0006355 regulation of transcription, DNA-templated IDA 12670868
GO:0006366 transcription from RNA polymerase II promoter TAS 8392914
GO:0007005 mitochondrion organization TAS --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with HCFC1: view

No data available for SIGNOR curated interactions for HCFC1 Gene

Drugs & Compounds for HCFC1 Gene

(2) Drugs for HCFC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HCFC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HCFC1

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for HCFC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HCFC1 Gene

This gene is overexpressed in Lymph node (17.0), Peripheral blood mononuclear cells (8.2), and Heart (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HCFC1 Gene



Protein tissue co-expression partners for HCFC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HCFC1 Gene:

HCFC1

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 expression patterns with HCFC1: view

Primer Products

No data available for mRNA differential expression in normal tissues for HCFC1 Gene

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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia HCFC1 34 35
  • 89.69 (n)
cow
(Bos Taurus)
Mammalia HCFC1 34 35
  • 87.46 (n)
mouse
(Mus musculus)
Mammalia Hcfc1 34 16 35
  • 86.52 (n)
rat
(Rattus norvegicus)
Mammalia Hcfc1 34
  • 86.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HCFC1 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HCFC1 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HCFC1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7103 34
zebrafish
(Danio rerio)
Actinopterygii hcfc1a 35
  • 71 (a)
OneToMany
hcfc1b 34 35
  • 65.15 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5114 34
fruit fly
(Drosophila melanogaster)
Insecta Hcf 36 35
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea hcf-1 34 35
  • 52.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9386 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3189 34
Species where no ortholog for HCFC1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs318240758 Mental retardation, X-linked 3 (MRX3) [MIM:309541], Pathogenic 153,963,263(-) GATGA(A/G)TGGCT upstream-variant-2KB, reference, missense
rs397515485 Pathogenic 153,964,283(-) GCAGG(C/G/T)GAGCC upstream-variant-2KB, reference, missense
rs397515486 Pathogenic 153,964,702(-) CCCAG(C/T)CGTGA reference, missense
rs397515487 Pathogenic 153,964,703(-) TCCCA(A/G)CCGTG reference, missense
rs398122908 Pathogenic 153,971,810(-) CAAGA(C/T)GGCGG upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2740634 CNV deletion 23290073
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
nsv469867 CNV loss 16826518

Variation tolerance for HCFC1 Gene

Residual Variation Intolerance Score: 0.888% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 33.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HCFC1 Gene

Human Gene Mutation Database (HGMD)
HCFC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HCFC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HCFC1 Gene

Disorders for HCFC1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for HCFC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 3
  • methylmalonic acidemia and homocysteinemia, cblx type
intellectual disability
alacrima, achalasia, and mental retardation syndrome
  • aamr
non-syndromic x-linked intellectual disability
  • mrx
herpes simplex
  • herpesvirus hominis disease
- elite association - COSMIC cancer census association via MalaCards
Search HCFC1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for HCFC1

Genetic Association Database (GAD)
HCFC1
Human Genome Epidemiology (HuGE) Navigator
HCFC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HCFC1
genes like me logo Genes that share disorders with HCFC1: view

No data available for Genatlas for HCFC1 Gene

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 22 64
  2. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. (PMID: 23000143) Huang L. … Gecz J. (Am. J. Hum. Genet. 2012) 2 3 4 64
  3. Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex. (PMID: 20018852) Cai Y. … Conaway R.C. (J. Biol. Chem. 2010) 3 4 22 64
  4. The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. (PMID: 20200153) Mazars R. … Girard J.P. (J. Biol. Chem. 2010) 3 4 22 64
  5. Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PMID: 19131338) Garapaty S. … Samuels H.H. (J. Biol. Chem. 2009) 3 4 22 64

Products for HCFC1 Gene

Sources for HCFC1 Gene

Content
Loading form....