KLHDC9:n tärkeä paralogi: HCFC1((Xq28) , Host Cell Factor family protein C1

https://www.genecards.org/cgi-bin/carddisp.pl?gene=HCFC1

Aliases for HCFC1 Gene

• Host Cell Factor C1 ^{2 3 5}
• Protein Phosphatase 1, Regulatory Subunit 89 ^{2 3}
• VP16-Accessory Protein ^{2 3}
• Host Cell Factor 1 ^{3 4}
• 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
• C1 Factor ⁴
• PPP1R89 ³
• MRX3 ³

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 Methylmalonic Acidemia And Homocysteinemia, Cblx Type and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Metabolism of proteins and Chromatin organization. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is HCFC2.

UniProtKB/Swiss-Prot Summary for HCFC1 Gene

• Involved in control of the cell cycle (PubMed:10629049, PubMed:10779346, PubMed:15190068, PubMed:16624878, PubMed:23629655). 
  Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 (PubMed:10675337, PubMed:12244100).
   Coactivator for EGR2 and GABP2 (PubMed:12244100, PubMed: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 (PubMed:12670868).
   Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 (PubMed:20200153). 
  As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852).
   Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655).
  

  • HCFC1_HUMAN,P51610
• (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.
  

  • HCFC1_HUMAN,P51610

1. NM_005334.3 → NP_005325.2  host cell factor 1
   See identical proteins and their annotated locations for NP_005325.2
   
   Status: REVIEWED

   Source sequence(s)

   BC010606, BC063435, L20010, U52112

   Consensus CDS

   CCDS44020.1

   UniProtKB/Swiss-Prot

   P51610

   Related

   ENSP00000309555.7, ENST00000310441.12

   Conserved Domains (6) summary

   PLN02153
   Location:12 → 330

   PLN02153; epithiospecifier protein

   cd00063
   Location:1856 → 1885

   FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

   sd00038
   Location:200 → 253

   Kelch; KELCH repeat [structural motif]

   pfam01344
   Location:32 → 69

   Kelch_1; Kelch motif

   pfam13415
   Location:215 → 263

   Kelch_3; Galactose oxidase, central domain

   pfam13854
   Location:134 → 179

   Kelch_5; Kelch motif

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 (PubMed:10920196). The majority of N- and C-terminal cleavage products remain tightly, albeit non-covalently, associated (PubMed:10920196). 
•  Interacts with POU2F1, CREB3, ZBTB17, EGR2, E2F4, CREBZF, SP1, GABP2, Sin3 HDAC complex (SIN3A, HDAC1, HDAC2, SUDS3), SAP30, SIN3B and FHL2 (PubMed:9271389, PubMed:9389645, PubMed:10675337, PubMed:10976766, PubMed:10629049, PubMed:10871379, PubMed:10984507, PubMed:12244100, PubMed:14532282, PubMed:12670868, PubMed:15705566, PubMed:16624878). 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 (PubMed:15199122, PubMed:15960975). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 (PubMed:20200153). 
• Interacts directly with THAP3 (via its HBM) (PubMed:20200153). Interacts (via the Kelch-repeat domain) with THAP1 (via the HBM); the interaction recruits HCHC1 to the RRM1 (PubMed:20200153).
•  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 (PubMed:12670868, PubMed:21285374, PubMed:23353889). Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L, CXXC1, HCFC1 and DPY30 (PubMed:17998332, PubMed:18838538). Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1 (PubMed:20018852). 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 (PubMed:19131338). Interacts with TET2 and TET3 (PubMed:23353889). Interacts with HCFC1R1 (PubMed:12235138). Interacts with THAP11 (By similarity). Interacts (via Kelch domain) with KMT2E/MLL5 isoform 3 (via HBM motif) (PubMed:23629655). Interacts with E2F1 (PubMed:23629655).
• (Microbial infection) 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 (PubMed:10629049). Interacts with the viral transactivator protein VP16 (PubMed:9271389, PubMed:9389645, PubMed:10629049).