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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
q25.1
Chromosome location (bp)
76136333 - 76141245
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor specifically required for the formation of motile cilia 1. Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Respiratory diseases Tracheobronchial diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0002508[central tolerance induction] GO:0002635[negative regulation of germinal center formation] GO:0002897[positive regulation of central B cell tolerance induction] GO:0002924[negative regulation of humoral immune response mediated by circulating immunoglobulin] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006959[humoral immune response] GO:0007283[spermatogenesis] GO:0007368[determination of left/right symmetry] GO:0007389[pattern specification process] GO:0007420[brain development] GO:0007507[heart development] GO:0008104[protein localization] GO:0030030[cell projection organization] GO:0030036[actin cytoskeleton organization] GO:0030856[regulation of epithelial cell differentiation] GO:0032053[ciliary basal body organization] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032715[negative regulation of interleukin-6 production] GO:0033085[negative regulation of T cell differentiation in thymus] GO:0035082[axoneme assembly] GO:0035089[establishment of apical/basal cell polarity] GO:0035502[metanephric part of ureteric bud development] GO:0042130[negative regulation of T cell proliferation] GO:0043565[sequence-specific DNA binding] GO:0044458[motile cilium assembly] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048469[cell maturation] GO:0050869[negative regulation of B cell activation] GO:0050900[leukocyte migration] GO:0060271[cilium assembly] GO:0060428[lung epithelium development] GO:0060429[epithelium development] GO:0060972[left/right pattern formation] GO:0072016[glomerular parietal epithelial cell development] GO:0090630[activation of GTPase activity] GO:1901248[positive regulation of lung ciliated cell differentiation]
The Human Protein Atlas project is funded
