Gene table of HCFC1 : host cell factor C1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HCFC1	OMIM link	Number of associated genes	genes
PS309530	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	25	THOC2, HCFC1, RPS6KA3, USP9X, MID2, RAB39B, KIAA2022, ZNF81, PAK3, IQSEC2, DLG3, TSPAN7, ZDHHC15, ZNF711, KIF4A, ACSL4, BRWD3, IL1RAPL1, GDI1, SYP, ARHGEF6, ARX, DDX3X, GRIA3, FTSJ1

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Annotation of the gene HCFC1

Associated genes in ENSEMBL

ENSG00000172534

Associated proteins - SwissProt Accession ID

P51610

Associated PDB IDs

Cytogenetic Band

Xq28

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Herpes simplex infection	hsa05168	5.08

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Transcriptional activation of mitochondrial biogenesis	R-HSA-2151201	7.62
HATs acetylate histones	R-HSA-3214847	6.23
Mitochondrial biogenesis	R-HSA-1592230	7.34
Chromatin organization	R-HSA-4839726	5.19
Chromatin modifying enzymes	R-HSA-3247509	5.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
transcription coactivator activity	GO:0003713	4.04
peptide-lysine-N-acetyltransferase activity	GO:0061733	5.68
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
histone acetyltransferase activity (H4-K16 specific)	GO:0046972	7.54
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
peptide N-acetyltransferase activity	GO:0034212	5.55
histone acetyltransferase activity (H4-K5 specific)	GO:0043995	7.54
H4 histone acetyltransferase activity	GO:0010485	6.97
N-acetyltransferase activity	GO:0008080	5.27
histone acetyltransferase activity	GO:0004402	5.7
transcription cofactor activity	GO:0003712	3.44
histone acetyltransferase activity (H4-K8 specific)	GO:0043996	7.54
transferase activity	GO:0016740	1.95
transferase activity, transferring acyl groups	GO:0016746	4.2
transferase activity, transferring acyl groups other than amino-acyl groups	GO:0016747	4.37
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
N-acyltransferase activity	GO:0016410	5.08
catalytic activity	GO:0003824	1.05
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0001205	6.48
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
acetyltransferase activity	GO:0016407	5.1
identical protein binding	GO:0042802	2.63
protein binding	GO:0005515	0.46
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65