UniProtKB - Q12946 (FOXF1_HUMAN)
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- BLAST>sp|Q12946|FOXF1_HUMAN Forkhead box protein F1 OS=Homo sapiens GN=FOXF1 PE=1 SV=2 MSSAPEKQQPPHGGGGGGGGGGGAAMDPASSGPSKAKKTNAGIRRPEKPPYSYIALIVMA IQSSPTKRLTLSEIYQFLQSRFPFFRGSYQGWKNSVRHNLSLNECFIKLPKGLGRPGKGH YWTIDPASEFMFEEGSFRRRPRGFRRKCQALKPMYSMMNGLGFNHLPDTYGFQGSAGGLS CPPNSLALEGGLGMMNGHLPGNVDGMALPSHSVPHLPSNGGHSYMGGCGGAAAGEYPHHD SSVPASPLLPTGAGGVMEPHAVYSGSAAAWPPSASAALNSGASYIKQQPLSPCNPAANPL SGSLSTHSLEQPYLHQNSHNAPAELQGIPRYHSQSPSMCDRKEFVFSFNAMASSSMHSAG GGSYYHQQVTYQDIKPCVM
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Protein
Forkhead box protein F1
Gene
FOXF1
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Probable transcription activator for a number of lung-specific genes.
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section specifies the position and type of each <span class="caps">DNA</span>-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi | 47 – 138 | Fork-headPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi Add BLAST | 92 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- DNA binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- sequence-specific DNA binding Source: UniProtKB <p>Inferred from Sequence or Structural Similarity<br />Used for any analysis based on sequence alignment, structure comparison, or evaluation of sequence features such as composition.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityi
- transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: NTNU_SB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: GO_Central
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- blood vessel development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- branching involved in open tracheal system development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- cardiac left ventricle morphogenesis Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- cell differentiation Source: GO_Central
- cellular response to cytokine stimulus Source: Ensembl
- cellular response to organic cyclic compound Source: Ensembl
- detection of wounding Source: Ensembl
- determination of left/right symmetry Source: Ensembl
- digestive tract development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- ductus arteriosus closure Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- embryonic digestive tract morphogenesis Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- embryonic ectodermal digestive tract morphogenesis Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- embryonic foregut morphogenesis Source: Ensembl
- endocardial cushion development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- epithelial cell differentiation involved in mammary gland alveolus development Source: Ensembl
- epithelial tube branching involved in lung morphogenesis Source: Ensembl
- establishment of epithelial cell apical/basal polarity Source: Ensembl
- extracellular matrix organization Source: Ensembl
- heart development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- in utero embryonic development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- lateral mesodermal cell differentiation Source: Ensembl
- lung alveolus development Source: Ensembl
- lung development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- lung lobe morphogenesis Source: Ensembl
- lung vasculature development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- mesenchyme migration Source: Ensembl
- midgut development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- morphogenesis of a branching structure Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- negative regulation of inflammatory response Source: Ensembl
- negative regulation of mast cell degranulation Source: Ensembl
- negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
- pancreas development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of cell migration Source: Ensembl
- positive regulation of cell-substrate adhesion Source: Ensembl
- positive regulation of mesenchymal cell proliferation Source: Ensembl
- positive regulation of transcription, DNA-templated Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- regulation of smooth muscle cell differentiation Source: Ensembl
- renal system development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- respiratory tube development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- right lung morphogenesis Source: Ensembl
- single organismal cell-cell adhesion Source: Ensembl
- smoothened signaling pathway Source: Ensembl
- smooth muscle cell differentiation Source: Ensembl
- somitogenesis Source: Ensembl
- trachea development Source: Ensembl
- ureter development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- vasculogenesis Source: Ensembl
- venous blood vessel development Source: DFLAT <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Activator, DNA-binding |
| Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q12946. |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the ‘Names and Taxonomy’ section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Forkhead box protein F1Alternative name(s): Forkhead-related activator 1 Short name: FREAC-1 Forkhead-related protein FKHL5 Forkhead-related transcription factor 1 |
| <p>This subsection of the ‘Names and taxonomy’ section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:FOXF1 Synonyms:FKHL5, FREAC1 |
| <p>This subsection of the ‘Names and taxonomy’ section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the ‘Names and taxonomy’ section shows the unique identifier assigned by the <span class="caps">NCBI</span> to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the ‘Names and taxonomy’ section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the “Names and Taxonomy” section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Human Gene Nomenclature Database More...HGNCi | HGNC:3809. FOXF1. |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
- Nucleus Curated
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti
- nucleus Source: GO_Central
- transcription factor complex Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)3 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.7"Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations."
Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K., Bolivar J., Bauer M., Zackai E.H., McDonald-McGinn D., Nowaczyk M.M., Murray M., Hustead V., Mascotti K. , Schultz R., Hallam L., McRae D., Nicholson A.G., Newbury R., Durham-O'Donnell J., Knight G., Kini U., Shaikh T.H., Martin V., Tyreman M., Simonic I., Willatt L., Paterson J., Mehta S., Rajan D., Fitzgerald T., Gribble S., Prigmore E., Patel A., Shaffer L.G., Carter N.P., Cheung S.W., Langston C., Shaw-Smith C.
Am. J. Hum. Genet. 84:780-791(2009) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN ACDMPV. - Ref.8"Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain."
Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P.
Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330. - Ref.9"Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family."
Reiter J., Szafranski P., Breuer O., Perles Z., Dagan T., Stankiewicz P., Kerem E.
Pediatr. Pulmonol. 51:921-927(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT ACDMPV LEU-77.
Ref.7
"Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations."
Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K., Bolivar J., Bauer M., Zackai E.H., McDonald-McGinn D., Nowaczyk M.M., Murray M., Hustead V., Mascotti K. , Schultz R., Hallam L., McRae D., Nicholson A.G., Newbury R., Durham-O'Donnell J., Knight G., Kini U., Shaikh T.H., Martin V., Tyreman M., Simonic I., Willatt L., Paterson J., Mehta S., Rajan D., Fitzgerald T., Gribble S., Prigmore E., Patel A., Shaffer L.G., Carter N.P., Cheung S.W., Langston C., Shaw-Smith C.
Am. J. Hum. Genet. 84:780-791(2009) [PubMed] [Europe PMC] [Abstract]
Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K., Bolivar J., Bauer M., Zackai E.H., McDonald-McGinn D., Nowaczyk M.M., Murray M., Hustead V., Mascotti K. , Schultz R., Hallam L., McRae D., Nicholson A.G., Newbury R., Durham-O'Donnell J., Knight G., Kini U., Shaikh T.H., Martin V., Tyreman M., Simonic I., Willatt L., Paterson J., Mehta S., Rajan D., Fitzgerald T., Gribble S., Prigmore E., Patel A., Shaffer L.G., Carter N.P., Cheung S.W., Langston C., Shaw-Smith C.
Am. J. Hum. Genet. 84:780-791(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ACDMPV.
Ref.8
"Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain."
Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P.
Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract]
Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P.
Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.
Ref.9
"Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family."
Reiter J., Szafranski P., Breuer O., Perles Z., Dagan T., Stankiewicz P., Kerem E.
Pediatr. Pulmonol. 51:921-927(2016) [PubMed] [Europe PMC] [Abstract]
Reiter J., Szafranski P., Breuer O., Perles Z., Dagan T., Stankiewicz P., Kerem E.
Pediatr. Pulmonol. 51:921-927(2016) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ACDMPV LEU-77.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.
See also OMIM:265380| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071016 | 49 | P → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071017 | 49 | P → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071018 | 52 | S → F in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071019 | 53 | Y → C in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071020 | 74 | I → N in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076592 | 77 | F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071021 | 85 | F → I in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071022 | 85 | F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071023 | 85 | F → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071024 | 86 | R → W in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071025 | 91 | G → E in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071026 | 91 | G → V in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071027 | 96 | V → M in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071028 | 97 | R → H in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071029 | 98 | H → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071030 | 101 | S → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071031 | 106 | F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071032 | 113 – 119 | Missing in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 7 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071033 | 119 | G → D in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071034 | 126 | P → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071035 | 139 | R → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071036 | 330 | R → W in ACDMPV; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 2294. |
MalaCards human disease database More...MalaCardsi | FOXF1. |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 265380. phenotype. |
Open Targets More...OpenTargetsi | ENSG00000103241. |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 210122. Congenital alveolar capillary dysplasia. |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA28226. |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | FOXF1. |
Domain mapping of disease mutations (DMDM) More...DMDMi | 238054293. |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000091832 | 1 – 379 | Forkhead box protein F1Add BLAST | 379 |
Proteomic databases
MaxQB - The MaxQuant DataBase More...MaxQBi | Q12946. |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q12946. |
PeptideAtlas More...PeptideAtlasi | Q12946. |
PRoteomics IDEntifications database More...PRIDEi | Q12946. |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q12946. |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q12946. |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="http://www.uniprot.org/uniprot/O14734#expression"><span class="caps">O14734</span></a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
Expressed in lung and placenta.1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.6"Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei
Expressed in fetal lung.1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.6"Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000103241. |
CleanEx database of gene expression profiles More...CleanExi | HS_FOXF1. |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q12946. HS. |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA028886. |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 108583. 22 interactors. |
Protein interaction database and analysis system More...IntActi | Q12946. 13 interactors. |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000262426. |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q12946. |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q12946. |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini
Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG2294. Eukaryota. COG5025. LUCA. |
Ensembl GeneTree More...GeneTreei | ENSGT00800000124014. |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000060124. |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG051644. |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q12946. |
KEGG Orthology (KO) More...KOi | K09399. |
Identification of Orthologs from Complete Genome Data More...OMAi | MMNGHLA. |
Database of Orthologous Groups More...OrthoDBi | EOG091G11UK. |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q12946. |
TreeFam database of animal gene trees More...TreeFami | TF351598. |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 1.10.10.10. 1 hit. |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR001766. Fork_head_dom. IPR018122. TF_fork_head_CS_1. IPR030456. TF_fork_head_CS_2. IPR011991. WHTH_DNA-bd_dom. |
Pfam protein domain database More...Pfami | View protein in Pfam PF00250. Forkhead. 1 hit. |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00053. FORKHEAD. |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00339. FH. 1 hit. |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF46785. SSF46785. 1 hit. |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00657. FORK_HEAD_1. 1 hit. PS00658. FORK_HEAD_2. 1 hit. PS50039. FORK_HEAD_3. 1 hit. |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei
<p>This subsection of the ‘Sequence’ section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
Q12946-1 [UniParc]FASTAAdd to basketAdded to basketShow »
10 20 30 40 50
MSSAPEKQQP PHGGGGGGGG GGGAAMDPAS SGPSKAKKTN AGIRRPEKPP
60 70 80 90 100
YSYIALIVMA IQSSPTKRLT LSEIYQFLQS RFPFFRGSYQ GWKNSVRHNL
110 120 130 140 150
SLNECFIKLP KGLGRPGKGH YWTIDPASEF MFEEGSFRRR PRGFRRKCQA
160 170 180 190 200
LKPMYSMMNG LGFNHLPDTY GFQGSAGGLS CPPNSLALEG GLGMMNGHLP
210 220 230 240 250
GNVDGMALPS HSVPHLPSNG GHSYMGGCGG AAAGEYPHHD SSVPASPLLP
260 270 280 290 300
TGAGGVMEPH AVYSGSAAAW PPSASAALNS GASYIKQQPL SPCNPAANPL
310 320 330 340 350
SGSLSTHSLE QPYLHQNSHN APAELQGIPR YHSQSPSMCD RKEFVFSFNA
360 370
MASSSMHSAG GGSYYHQQVT YQDIKPCVM
Length:379
Mass (Da):40,122
Last modified:May 26, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iCA3DE3CEFB94FC3E
<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni
The sequence AAC50399 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAC61576 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH89442 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAG36851 differs from that shown. Reason: Frameshift at several positions.Curated
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071016 | 49 | P → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071017 | 49 | P → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071018 | 52 | S → F in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071019 | 53 | Y → C in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071020 | 74 | I → N in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076592 | 77 | F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071021 | 85 | F → I in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071022 | 85 | F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071023 | 85 | F → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071024 | 86 | R → W in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071025 | 91 | G → E in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071026 | 91 | G → V in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071027 | 96 | V → M in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071028 | 97 | R → H in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071029 | 98 | H → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071030 | 101 | S → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071031 | 106 | F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071032 | 113 – 119 | Missing in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 7 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071033 | 119 | G → D in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071034 | 126 | P → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071035 | 139 | R → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071036 | 330 | R → W in ACDMPV; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | U13219 mRNA. Translation: AAC50399.1. Different initiation. AF085343, AF085342 Genomic DNA. Translation: AAC61576.1. Different initiation. AK314167 mRNA. Translation: BAG36851.1. Frameshift. AC009108 Genomic DNA. No translation available. BC089442 mRNA. Translation: AAH89442.1. Different initiation. |
The Consensus CDS (CCDS) project More...CCDSi | CCDS10957.2. |
Protein sequence database of the Protein Information Resource More...PIRi | S51624. |
NCBI Reference Sequences More...RefSeqi | NP_001442.2. NM_001451.2. |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.155591. Hs.690163. |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000262426; ENSP00000262426; ENSG00000103241. |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 2294. |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:2294. |
UCSC genome browser More...UCSCi | uc002fjl.4. human. |
<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Entry | Cluster members | Organisms | Length | Cluster ID | Cluster name | Size | |
|---|---|---|---|---|---|---|---|
| Q12946 | A0A161DGH1 | Homo sapiens (Human) | 379 | UniRef100_Q12946 | Cluster: Forkhead box protein F1 | 2 |
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi
| Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | U13219 mRNA. Translation: AAC50399.1. Different initiation. AF085343, AF085342 Genomic DNA. Translation: AAC61576.1. Different initiation. AK314167 mRNA. Translation: BAG36851.1. Frameshift. AC009108 Genomic DNA. No translation available. BC089442 mRNA. Translation: AAH89442.1. Different initiation. |
The Consensus CDS (CCDS) project More...CCDSi | CCDS10957.2. |
Protein sequence database of the Protein Information Resource More...PIRi | S51624. |
NCBI Reference Sequences More...RefSeqi | NP_001442.2. NM_001451.2. |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.155591. Hs.690163. |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q12946. |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q12946. |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 108583. 22 interactors. |
Protein interaction database and analysis system More...IntActi | Q12946. 13 interactors. |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000262426. |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q12946. |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q12946. |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | FOXF1. |
Domain mapping of disease mutations (DMDM) More...DMDMi | 238054293. |
Proteomic databases
MaxQB - The MaxQuant DataBase More...MaxQBi | Q12946. |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q12946. |
PeptideAtlas More...PeptideAtlasi | Q12946. |
PRoteomics IDEntifications database More...PRIDEi | Q12946. |
Protocols and materials databases
The DNASU plasmid repository More...DNASUi | 2294. |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000262426; ENSP00000262426; ENSG00000103241. |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 2294. |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:2294. |
UCSC genome browser More...UCSCi | uc002fjl.4. human. |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 2294. |
DisGeNET More...DisGeNETi | 2294. |
GeneCards: human genes, protein and diseases More...GeneCardsi | FOXF1. |
Human Gene Nomenclature Database More...HGNCi | HGNC:3809. FOXF1. |
Human Protein Atlas More...HPAi | HPA028886. |
MalaCards human disease database More...MalaCardsi | FOXF1. |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 265380. phenotype. 601089. gene. |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q12946. |
Open Targets More...OpenTargetsi | ENSG00000103241. |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 210122. Congenital alveolar capillary dysplasia. |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA28226. |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG2294. Eukaryota. COG5025. LUCA. |
Ensembl GeneTree More...GeneTreei | ENSGT00800000124014. |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000060124. |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG051644. |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q12946. |
KEGG Orthology (KO) More...KOi | K09399. |
Identification of Orthologs from Complete Genome Data More...OMAi | MMNGHLA. |
Database of Orthologous Groups More...OrthoDBi | EOG091G11UK. |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q12946. |
TreeFam database of animal gene trees More...TreeFami | TF351598. |
Enzyme and pathway databases
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q12946. |
Miscellaneous databases
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | FOXF1. |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 2294. |
Protein Ontology More...PROi | PR:Q12946. |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000103241. |
CleanEx database of gene expression profiles More...CleanExi | HS_FOXF1. |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q12946. HS. |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 1.10.10.10. 1 hit. |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR001766. Fork_head_dom. IPR018122. TF_fork_head_CS_1. IPR030456. TF_fork_head_CS_2. IPR011991. WHTH_DNA-bd_dom. |
Pfam protein domain database More...Pfami | View protein in Pfam PF00250. Forkhead. 1 hit. |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00053. FORKHEAD. |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00339. FH. 1 hit. |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF46785. SSF46785. 1 hit. |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00657. FORK_HEAD_1. 1 hit. PS00658. FORK_HEAD_2. 1 hit. PS50039. FORK_HEAD_3. 1 hit. |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | FOXF1_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | Q12946Primary (citable) accession number: Q12946 Secondary accession number(s): B2RAF4, Q5FWE5 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
| Last sequence update: | May 26, 2009 | |
| Last modified: | August 30, 2017 | |
| This is version 149 of the entry and version 2 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
Caution
It is uncertain whether Met-1 or Met-26 is the initiator.Curated
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot