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HCFC1 - host cell factor C1 (human)

Gene
Symbol
Dates
  • Create:
    2016-09-14
  • Modify:
    2024-12-21
Description
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]
Enables several functions, including chromatin binding activity; identical protein binding activity; and transcription coactivator activity. Involved in positive regulation of macromolecule biosynthetic process; protein stabilization; and regulation of protein-containing complex assembly. Located in cytoplasm; neuronal cell body; and nucleoplasm. Part of MLL1 complex; NSL complex; and Set1C/COMPASS complex. Implicated in methylmalonic acidemia and homocysteinemia cblX type.

The HCFC1 gene provides instructions for making a protein, called HCF-1, that helps regulate the activity of other genes. HCF-1 interacts with proteins called transcription factors, which attach (bind) to specific regions of DNA and help control the activity of particular genes.

A specific function of the HCF-1 protein is to control the activity of genes involved in the processing of vitamin B12 (also known as cobalamin), particularly the MMACHC gene. This gene plays a role in the conversion of vitamin B12 into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fats (lipids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

HCF-1 helps regulate genes that are important in other cellular processes, such as progression of cells through the step-by-step process it takes to replicate themselves (called the cell cycle). This protein also plays a role in the distribution of cells in developing tissues and organs, including the brain.

1 Names and Identifiers

1.1 Synonyms

  • CFF
  • HCF
  • HCF-1
  • HCF1
  • HFC1
  • MAHCX
  • MRX3
  • PPP1R89
  • VCAF
  • XLID3
  • host cell factor 1
  • VP16-accessory protein
  • protein phosphatase 1, regulatory subunit 89

1.1.1 MeSH Entry Terms

  • C1 Host Cell Factor
  • Cell Proliferation Factor HCF
  • HCFC1 Protein

1.2 Other Identifiers

1.2.1 HGNC ID

1.2.2 Ensembl ID

1.2.3 Alliance Gene ID

1.2.4 Bgee Gene ID

1.2.5 GenCC ID

1.2.6 KEGG Gene

1.2.7 MIM Number

1.2.8 NCI Thesaurus Code

1.2.9 Open Targets ID

1.2.10 PharmGKB ID

1.2.11 Pharos Target

1.2.12 VEuPathDB ID

1.2.13 Wikidata

3 Proteins

3.1 Protein Function

Transcriptional coregulator (By similarity). Involved in control of the cell cycle (PMID: 10629049, PMID: 10779346, PMID: 15190068, PMID: 16624878, PMID: 23629655). Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 (PMID: 10675337, PMID: 12244100). Coactivator for EGR2 and GABP2 (PMID: 12244100, PMID: 14532282). 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 (PMID: 12670868). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 (PMID: 20200153). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PMID: 20018852). Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition (PMID: 23629655). Modulates expression of homeobox protein PDX1, perhaps acting in concert with transcription factor E2F1, thereby regulating pancreatic beta-cell growth and glucose-stimulated insulin secretion (By similarity). May negatively modulate transcriptional activity of FOXO3 (By similarity).

(Microbial infection) 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.

3.2 Protein Isoforms

Isoform
Isoform 1
UniProt ID
RefSeq Accession
Isoform
Isoform 2
UniProt ID
RefSeq Accession
Isoform
Isoform 3
UniProt ID
RefSeq Accession
Isoform
Isoform 4
UniProt ID
RefSeq Accession

3.3 Protein 3D Structures

3.3.1 PDB Structures

3.3.2 NCBI Protein Structures

3.3.3 AlphaFold Structures

Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605

3.4 Protein Targets

4 BioAssays

4.1 RNAi BioAssays

5 Diseases and Phenotypes

5.1 GHR Health Conditions

5.2 KEGG Diseases

5.3 OMIM Phenotypes

5.4 MedGen Diseases

5.5 Gene-Disease Associations

6 Interactions and Pathways

6.1 Chemical-Gene Interactions

6.2 Interactions

6.3 Pathways

7 Biochemical Reactions

8 Expression

9 Target Development Level

10 Literature

10.1 Consolidated References

10.2 NLM Curated PubMed Citations

10.3 Gene-Chemical Co-Occurrences in Literature

10.4 Gene-Gene Co-Occurrences in Literature

10.5 Gene-Disease Co-Occurrences in Literature

11 Patents

11.1 Gene-Chemical Co-Occurrences in Patents

11.2 Gene-Gene Co-Occurrences in Patents

11.3 Gene-Disease Co-Occurrences in Patents

12 Classification

12.1 Gene Family

12.2 MeSH Tree

12.3 NCI Thesaurus Tree

12.4 Gene Ontology: Biological Process

12.5 Gene Ontology: Cellular Component

12.6 Gene Ontology: Molecular Function

13 Information Sources

  1. NCBI Gene
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  6. BioGRID
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    https://wiki.thebiogrid.org/doku.php/terms_and_conditions
  7. Database of Interacting Proteins (DIP)
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    https://dip.doe-mbi.ucla.edu/dip/termsofuse.html
  8. STRING: functional protein association networks
  9. Comparative Toxicogenomics Database (CTD)
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    http://ctdbase.org/about/legal.jsp
  10. Open Targets
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    https://platform-docs.opentargets.org/licence
  11. Gene Curation Coalition (GenCC)
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    The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.
    https://thegencc.org/terms.html
    HCFC1
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  16. NCBI Structure
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  18. Online Mendelian Inheritance in Man (OMIM)
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  19. PharmGKB
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  20. Pharos
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    https://pharos.nih.gov/about
  21. RCSB Protein Data Bank (RCSB PDB)
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  22. Swiss Institute of Bioinformatics Bgee
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    https://www.bgee.org/about/
  23. UniProt
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    https://www.uniprot.org/help/license
  24. VEuPathDB: The Eukaryotic Pathogen, Vector and Host Informatics Resource
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    https://veupathdb.org/veupathdb/app/static-content/about.html
  25. Wikidata
  26. Gene Ontology (GO)
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  27. AlphaFold DB
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    https://alphafold.ebi.ac.uk/faq
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