FOXQ1 (forkhead box Q1)

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FOXQ1 (forkhead box Q1)

Written	2014-04	Jon Christensen, Pascale Anderle
		Institute for Macromolecular Chemistry, Alber-Ludwigs-University of Freiburg, Freiburg, Germany (JC); Swiss Institute of Bioinformatics, Lausanne, Switzerland (PA)

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)	HFH1
Other alias
HGNC (Hugo)	FOXQ1
LocusID (NCBI)	94234
Atlas_Id	45906
Location	6p25.3 [Link to chromosome band 6p25]
Location_base_pair	Starts at 1312440 and ends at 1314758 bp from pter ( according to hg19-Feb_2009) [Mapping FOXQ1.png]

DNA/RNA

Description	The FOXQ1 gene is 2338 base pairs in length and is intronless.
Transcription	In mouse Foxq1 has been reported to be regulated by Hoxa1 (Martinez-Ceballos et al., 2005), Hoxc13 (Potter et al., 2006) and Tgfβ (Zhang et al., 2011). In human FOXQ1 has been shown to be a target of the Wnt pathway (Christensen et al., 2013; Xia et al., 2014).

Protein



	Figure 1. Structure of the winged helix domain. α-helices are shown as red cylinders (H1, H2 and H3), β-strands as blue arrows and W1 and W2 denote the wings (Clark et al., 1993; Gajiwala and Burley, 2000).

Description	The forkhead box Q1 gene codes for a 403 amino acid long protein with a size of 41.5 kDa. FOXQ1 is a member of the Forkhead box (Fox) superfamily. The family members share a conserved DNA-binding domain named forkhead box or winged helix domain. The domain consists of three a-helices, three β-sheets and two loops termed wings.


	Figure 2. Graphical illustration of the FOXQ1 amino acid sequence and domains. (I) Acid and serine-rich domain. (WH) winged helix domain. (II) Serin-rich domain. (III) Proline-rich domain. (IV) Functional conserved domain (Hong et al., 2001; Wu et al., 2013).

Expression	Predominantly in the stomach, trachea, bladder and salivary gland (Bieller et al., 2001).
Function	In mice Foxq1 is involved in hair follicle differentiation (Hong et al., 2001; Potter et al., 2006). A mutation in the Foxq1 gene is responsible for an impaired differentiation of the hair shaft in the satin mice (Hong et al., 2001). In the digestive system Foxq1 has been shown to regulate acid secretion and expression of Muc5ac (Goering et al., 2008; Verzi et al., 2008).
Homology	According to NCBI the following genes have been suggested to be putative homologues: FOXQ1 (H. sapiens), Foxq1 (M. musculus), Foxq1 (R. norvegicus), Foxq1a (D. rerio) and Foxq1b (D. rerio). Conserved domains from CDD found in protein sequences by rpsblast searching was FH (cl00061).

Mutations

Note

Mutations in the Foxq1 gene is responsible for the hair follicle defects seen in the satin mouse mutant. Three mutations have been described leading to similar phenotypes of the animals. Foxq1^sa has a 67 bp deletion from 686-752 and a base pair change CA-AT at position 766-767. Foxq1^sa-el has a point mutation a position 383 changing T to G thus replacing isoleucine with serin at position 128 in the protein. Foxq1^sa-J has C to T mutation in position 490 changing the amino acide arginine to cysteine at position 164 in the protein (Hong et al., 2001; Wu et al., 2013).

Note

Entity	Bladder cancer
Oncogenesis	FOXQ1 was overexpressed in bladder cancer samples. Depletion of FOXQ1 expression in bladder cancer cell lines reduced invasiveness and EMT markers (Zhu et al., 2013).


Entity	Breast cancer
Prognosis	FOXQ1 expression in breast cancer patients is associated with poor survival, high grade, metastatic status and basal-like phenotype (Qiao et al., 2011).
Oncogenesis	FOXQ1 overexpression was observed in invasive breast cancer cell lines compared to non-invasive. FOXQ1 expression increases breast cancer cell proliferation, migration and invasion in vitro and metastasis in vivo (Zhang et al., 2011). FOXQ1 promotes an EMT phenotype through transcriptional regulation of CDH1 (Qiao et al., 2011; Zhang et al., 2011).


Entity	Colorectal cancer
Oncogenesis	Several studies have shown FOXQ1 to be overexpressed in colorectal tumor samples compared to healthy colonocytes (Bieller et al., 2001; Sabates-Bellver et al., 2007; Kaneda et al., 2010; Christensen et al., 2013). The increased expression of FOXQ1 could be due to a hyperactive Wnt pathway in these tumors. Wnt activity directly correlates with FOXQ1 expression in colorectal cancer cell lines and β-catenin can bind to the promoter of FOXQ1 and increase transcription (Christensen et al., 2013). FOXQ1 expression can induce an EMT phenotype (Qiao et al., 2011; Abba et al., 2013). FOXQ1 does not increase growth but seems to protect from apoptosis (Kaneda et al., 2010; Qiao et al., 2011; Abba et al., 2013). The anti-apoptotic effect was mediated through FOXQ1 regulation of p21 (Kaneda et al., 2010).


Entity	Gastric cancer
Prognosis	The expression of FOXQ1 was a prognostic factor for overall survival and correlated with tumor size, grade and tumor-node metastasis stage (Liang et al., 2013).
Oncogenesis	FOXQ1 increases migration and proliferation by downregulating NRXN3.


Entity	Glioma
Disease	Tumors that arise from the glial cells, the most common site is the brain.
Oncogenesis	FOXQ1 increased migration and proliferation by downregulating NRXN3 (Sun et al., 2013).


Entity	Hepatocarcinoma
Cytogenetics	FOXQ1 correlated with overall worse survival and higher recurrence (Wang et al., 2013; Xia et al., 2014).
Oncogenesis	In hepatocarcinoma FOXQ1 directly activated the EMT transcription factor ZEB2. This led to an EMT phenotype and increased lung metastasis. FOXQ1 and ZEB2 expression correlated positively in hepatocarcinoma samples but inversely with CDH1. FOXQ1 induced metastasis through regulation of VersicanV1, which promoted tumor-associated-macrophages attraction. Also, similarly to colorectal cancer expression of FOXQ1 was regulated by the Wnt pathway in hepatocarcinoma (Xia et al., 2014).


Entity	Non-small-cell lung carcinoma
Prognosis	FOXQ1 expression was associated with poor prognosis and EMT (Feng et al., 2012).


Entity	Ovarian cancer
Oncogenesis	FOXQ1 expression increased ovarian cancer cell proliferation, invasion and induced an EMT phenotype (Gao et al., 2012).

	Nomenclature
HGNC (Hugo)	FOXQ1 20951
	Cards
Atlas	FOXQ1ID45906ch6p25
Entrez_Gene (NCBI)	FOXQ1 94234 forkhead box Q1
Aliases	HFH1
GeneCards (Weizmann)	FOXQ1
Ensembl hg19 (Hinxton)	ENSG00000164379 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000164379 [Gene_View] chr6:1312440-1314758 [Contig_View] FOXQ1 [Vega]
ICGC DataPortal	ENSG00000164379
TCGA cBioPortal	FOXQ1
AceView (NCBI)	FOXQ1
Genatlas (Paris)	FOXQ1
WikiGenes	94234
SOURCE (Princeton)	FOXQ1
Genetics Home Reference (NIH)	FOXQ1
	Genomic and cartography
GoldenPath hg38 (UCSC)	FOXQ1 - chr6:1312440-1314758 + 6p25.3 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	FOXQ1 - 6p25.3 [Description] (hg19-Feb_2009)
Ensembl	FOXQ1 - 6p25.3 [CytoView hg19] FOXQ1 - 6p25.3 [CytoView hg38]
Mapping of homologs : NCBI	FOXQ1 [Mapview hg19] FOXQ1 [Mapview hg38]
OMIM	612788
	Gene and transcription
Genbank (Entrez)	BC053850 BM980542 BU566731
RefSeq transcript (Entrez)	NM_033260
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	FOXQ1
Cluster EST : Unigene	Hs.591352 [ NCBI ]
CGAP (NCI)	Hs.591352
Alternative Splicing Gallery	ENSG00000164379
Gene Expression	FOXQ1 [ NCBI-GEO ] FOXQ1 [ EBI - ARRAY_EXPRESS ] FOXQ1 [ SEEK ] FOXQ1 [ MEM ]
Gene Expression Viewer (FireBrowse)	FOXQ1 [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	94234
GTEX Portal (Tissue expression)	FOXQ1
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q9C009 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q9C009 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q9C009
Splice isoforms : SwissVar	Q9C009
PhosPhoSitePlus	Q9C009
Domaine pattern : Prosite (Expaxy)	FORK_HEAD_1 (PS00657) FORK_HEAD_2 (PS00658) FORK_HEAD_3 (PS50039)
Domains : Interpro (EBI)	Fork_head_dom TF_fork_head_CS_1 TF_fork_head_CS_2 WHTH_DNA-bd_dom
Domain families : Pfam (Sanger)	Forkhead (PF00250)
Domain families : Pfam (NCBI)	pfam00250
Domain families : Smart (EMBL)	FH (SM00339)
Conserved Domain (NCBI)	FOXQ1
DMDM Disease mutations	94234
Blocks (Seattle)	FOXQ1
Superfamily	Q9C009
Human Protein Atlas	ENSG00000164379
Peptide Atlas	Q9C009
HPRD	17015
IPI	IPI00018738
	Protein Interaction databases
DIP (DOE-UCLA)	Q9C009
IntAct (EBI)	Q9C009
FunCoup	ENSG00000164379
BioGRID	FOXQ1
STRING (EMBL)	FOXQ1
ZODIAC	FOXQ1
	Ontologies - Pathways
QuickGO	Q9C009
Ontology : AmiGO	negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding nucleus transcription, DNA-templated hair follicle morphogenesis
Ontology : EGO-EBI	negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding nucleus transcription, DNA-templated hair follicle morphogenesis
NDEx Network	FOXQ1
Atlas of Cancer Signalling Network	FOXQ1
Wikipedia pathways	FOXQ1
	Orthology - Evolution
OrthoDB	94234
GeneTree (enSembl)	ENSG00000164379
Phylogenetic Trees/Animal Genes : TreeFam	FOXQ1
HOVERGEN	Q9C009
HOGENOM	Q9C009
Homologs : HomoloGene	FOXQ1
Homology/Alignments : Family Browser (UCSC)	FOXQ1
	Gene fusions - Rearrangements
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	FOXQ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	FOXQ1
dbVar	FOXQ1
ClinVar	FOXQ1
1000_Genomes	FOXQ1
Exome Variant Server	FOXQ1
ExAC (Exome Aggregation Consortium)	FOXQ1 (select the gene name)
Genetic variants : HAPMAP	94234
Genomic Variants (DGV)	FOXQ1 [DGVbeta]
DECIPHER	FOXQ1 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	FOXQ1
	Mutations
ICGC Data Portal	FOXQ1
TCGA Data Portal	FOXQ1
Broad Tumor Portal	FOXQ1
OASIS Portal	FOXQ1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	FOXQ1 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	FOXQ1
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search FOXQ1
DgiDB (Drug Gene Interaction Database)	FOXQ1
DoCM (Curated mutations)	FOXQ1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	FOXQ1 (select a term)
intoGen	FOXQ1
NCG5 (London)	FOXQ1
Cancer3D	FOXQ1(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	612788
Orphanet
Medgen	FOXQ1
Genetic Testing Registry	FOXQ1
NextProt	Q9C009 [Medical]
TSGene	94234
GENETests	FOXQ1
Target Validation	FOXQ1
Huge Navigator	FOXQ1 [HugePedia]
snp3D : Map Gene to Disease	94234
BioCentury BCIQ	FOXQ1
ClinGen	FOXQ1
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	94234
Chemical/Pharm GKB Gene	PA134924898
Clinical trial	FOXQ1
	Miscellaneous
canSAR (ICR)	FOXQ1 (select the gene name)
	Probes
	Litterature
PubMed	42 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	FOXQ1
EVEX	FOXQ1
GoPubMed	FOXQ1
iHOP	FOXQ1

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed