HCFC1

Chr Xq28

host cell factor C1

Aliases:: HCF-1, HCF1, CFF, VCAF, MGC70925
MANE:: ENST00000310441.12

OMIM: 300019 ↗NCBI: 3054 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

HCFC1 · P51610

v62025-08-01

Predicted Aligned Error matrix for HCFC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

46.4/ 100

Very low

2,035 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)7%
Low(50–70)2%
Very low(< 50)73%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Undiagnosed metabolic disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Familial Meniere Disease

Disease associations (Open Targets)

methylmalonic acidemia with homocystinuria, type cblX
0.80
hereditary disease
0.47
X-linked intellectual disability
0.41
Intellectual disability
0.40
X-linked non-syndromic intellectual disability
0.37
non-syndromic X-linked intellectual disability
0.37
Methylmalonic acidemia with homocystinuria
0.35
methylmalonic aciduria and homocystinuria type cblC
0.34
Methylmalonic acidemia with homocystinuria, type cblC
0.34
rheumatoid arthritis
0.13

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Host cell factor 1

Transcriptional coregulator (By similarity). Serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators (PubMed:26416877). 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). 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)