Transcription factor GATA-6

<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

Regions

<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

• chromatin binding Source: Ensembl
• DNA-binding transcription factor activity Source: BHF-UCL <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
  • Ref.11

    "GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling."
    Kodo K., Nishizawa T., Furutani M., Arai S., Yamamura E., Joo K., Takahashi T., Matsuoka R., Yamagishi H.
    Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT CTHM HIS-466, VARIANT ARG-15, CHARACTERIZATION OF VARIANT CTHM HIS-466.
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB <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
  • "GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling."
    Froese N., Kattih B., Breitbart A., Grund A., Geffers R., Molkentin J.D., Kispert A., Wollert K.C., Drexler H., Heineke J.
    J Biol Chem 286:5680-5690(2011) [PubMed] [Europe PMC] [Abstract]
• protein kinase binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "PTEN differentially regulates expressions of ICAM-1 and VCAM-1 through PI3K/Akt/GSK-3beta/GATA-6 signaling pathways in TNF-alpha-activated human endothelial cells."
    Tsoyi K., Jang H.J., Nizamutdinova I.T., Park K., Kim Y.M., Kim H.J., Seo H.G., Lee J.H., Chang K.C.
    Atherosclerosis 213:115-121(2010) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II repressing transcription factor binding Source: Ensembl
• sequence-specific double-stranded DNA binding Source: ARUK-UCLInferred from direct assayⁱ
  • "Impact of cytosine methylation on DNA binding specificities of human transcription factors."
    Yin Y., Morgunova E., Jolma A., Kaasinen E., Sahu B., Khund-Sayeed S., Das P.K., Kivioja T., Dave K., Zhong F., Nitta K.R., Taipale M., Popov A., Ginno P.A., Domcke S., Yan J., Schubeler D., Vinson C., Taipale J.
    Science 356:0-0(2017) [PubMed] [Europe PMC] [Abstract]
• transcription factor binding Source: UniProtKBInferred from physical interactionⁱ
  • "GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1."
    Fluck C.E., Miller W.L.
    Mol Endocrinol 18:1144-1157(2004) [PubMed] [Europe PMC] [Abstract]
• transcription regulatory region sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • "GATA-6 is a novel transcriptional repressor of the human Tenascin-C gene expression in fibroblasts."
    Ghatnekar A., Trojanowska M.
    Biochim Biophys Acta 1779:145-151(2008) [PubMed] [Europe PMC] [Abstract]
  • "The transcription factor GATA-4 regulates cytochrome P4502C19 gene expression."
    Mwinyi J., Hofmann Y., Pedersen R.S., Nekvindova J., Cavaco I., Mkrtchian S., Ingelman-Sundberg M.
    Life Sci 86:699-706(2010) [PubMed] [Europe PMC] [Abstract]
• zinc ion binding Source: InterPro

GO - Biological processⁱ

• animal organ formation Source: Ensembl
• atrioventricular canal development Source: BHF-UCL <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • "The formation and function of the cardiac conduction system."
    van Weerd J.H., Christoffels V.M.
    Development 143:197-210(2016) [PubMed] [Europe PMC] [Abstract]
• atrioventricular node development Source: BHF-UCLNon-traceable author statementⁱ
  • "The formation and function of the cardiac conduction system."
    van Weerd J.H., Christoffels V.M.
    Development 143:197-210(2016) [PubMed] [Europe PMC] [Abstract]
• blood coagulation Source: Reactome
• cardiac muscle cell differentiation Source: Ensembl
• cardiac muscle hypertrophy in response to stress Source: Ensembl
• cardiac vascular smooth muscle cell differentiation Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Calcineurin-GATA-6 pathway is involved in smooth muscle-specific transcription."
    Wada H., Hasegawa K., Morimoto T., Kakita T., Yanazume T., Abe M., Sasayama S.
    J Cell Biol 156:983-991(2002) [PubMed] [Europe PMC] [Abstract]
  • "GATA-6 is involved in PPARgamma-mediated activation of differentiated phenotype in human vascular smooth muscle cells."
    Abe M., Hasegawa K., Wada H., Morimoto T., Yanazume T., Kawamura T., Hirai M., Furukawa Y., Kita T.
    Arterioscler Thromb Vasc Biol 23:404-410(2003) [PubMed] [Europe PMC] [Abstract]
• cell fate commitment Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cellular protein metabolic process Source: Reactome
• cellular response to BMP stimulus Source: Ensembl
• cellular response to gonadotropin stimulus Source: Ensembl
• cellular response to hypoxia Source: UniProtKBInferred from direct assayⁱ
  • "GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling."
    Froese N., Kattih B., Breitbart A., Grund A., Geffers R., Molkentin J.D., Kispert A., Wollert K.C., Drexler H., Heineke J.
    J Biol Chem 286:5680-5690(2011) [PubMed] [Europe PMC] [Abstract]
• club cell differentiation Source: Ensembl
• endodermal cell fate determination Source: Ensembl
• epithelial cell differentiation Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• intestinal epithelial cell differentiation Source: MGIInferred from direct assayⁱ
  • "Distinct functions are implicated for the GATA-4, -5, and -6 transcription factors in the regulation of intestine epithelial cell differentiation."
    Gao X., Sedgwick T., Shi Y.B., Evans T.
    Mol Cell Biol 18:2901-2911(1998) [PubMed] [Europe PMC] [Abstract]
• in utero embryonic development Source: Ensembl
• liver development Source: Ensembl
• lung saccule development Source: Ensembl
• male gonad development Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "Developmental changes in human fetal testicular cell numbers and messenger ribonucleic acid levels during the second trimester."
    O'Shaughnessy P.J., Baker P.J., Monteiro A., Cassie S., Bhattacharya S., Fowler P.A.
    J Clin Endocrinol Metab 92:4792-4801(2007) [PubMed] [Europe PMC] [Abstract]
• negative regulation of apoptotic process Source: UniProtKBInferred from mutant phenotypeⁱ
  • "GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling."
    Froese N., Kattih B., Breitbart A., Grund A., Geffers R., Molkentin J.D., Kispert A., Wollert K.C., Drexler H., Heineke J.
    J Biol Chem 286:5680-5690(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of sebum secreting cell proliferation Source: UniProtKBInferred from direct assayⁱ
  • Ref.14

    "Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit and acne pathogenesis."
    Oules B., Philippeos C., Segal J., Tihy M., Vietri Rudan M., Cujba A.M., Grange P.A., Quist S., Natsuga K., Deschamps L., Dupin N., Donati G., Watt F.M.
    Nat. Commun. 11:5067-5067(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION BY CUTIBACTERIUM ACNES.
• negative regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • "GATA-6 is a novel transcriptional repressor of the human Tenascin-C gene expression in fibroblasts."
    Ghatnekar A., Trojanowska M.
    Biochim Biophys Acta 1779:145-151(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • "GATA-6 is a novel transcriptional repressor of the human Tenascin-C gene expression in fibroblasts."
    Ghatnekar A., Trojanowska M.
    Biochim Biophys Acta 1779:145-151(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transforming growth factor beta1 production Source: UniProtKBInferred from mutant phenotypeⁱ
  • "GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling."
    Froese N., Kattih B., Breitbart A., Grund A., Geffers R., Molkentin J.D., Kispert A., Wollert K.C., Drexler H., Heineke J.
    J Biol Chem 286:5680-5690(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transforming growth factor beta2 production Source: UniProtKBInferred from mutant phenotypeⁱ
  • "GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling."
    Froese N., Kattih B., Breitbart A., Grund A., Geffers R., Molkentin J.D., Kispert A., Wollert K.C., Drexler H., Heineke J.
    J Biol Chem 286:5680-5690(2011) [PubMed] [Europe PMC] [Abstract]
• outflow tract septum morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.11

    "GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling."
    Kodo K., Nishizawa T., Furutani M., Arai S., Yamamura E., Joo K., Takahashi T., Matsuoka R., Yamagishi H.
    Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT CTHM HIS-466, VARIANT ARG-15, CHARACTERIZATION OF VARIANT CTHM HIS-466.
• pancreatic A cell differentiation Source: Ensembl
• phospholipid metabolic process Source: Ensembl
• positive regulation of angiogenesis Source: UniProtKBInferred from direct assayⁱ
  • "GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling."
    Froese N., Kattih B., Breitbart A., Grund A., Geffers R., Molkentin J.D., Kispert A., Wollert K.C., Drexler H., Heineke J.
    J Biol Chem 286:5680-5690(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cardiac muscle cell proliferation Source: Ensembl
• positive regulation of cardiac muscle myoblast proliferation Source: BHF-UCLInferred from direct assayⁱ
  • "miR-10a regulates proliferation of human cardiomyocyte progenitor cells by targeting GATA6."
    Liang D., Zhen L., Yuan T., Huang J., Deng F., Wuyahan, Zhang H., Pan L., Liu Y., The E., Yu Z., Zhu W., Zhang Y., Li L., Peng L., Li J., Chen Y.H.
    PLoS One 9:e103097-e103097(2014) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cardioblast differentiation Source: Ensembl
• positive regulation of cell cycle arrest Source: UniProtKBInferred from direct assayⁱ
  • "GATA-6 induces p21(Cip1) expression and G1 cell cycle arrest."
    Perlman H., Suzuki E., Simonson M., Smith R.C., Walsh K.
    J Biol Chem 273:13713-13718(1998) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription, DNA-templated Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.17

    "GATA6 loss-of-function mutation in atrial fibrillation."
    Yang Y.Q., Li L., Wang J., Zhang X.L., Li R.G., Xu Y.J., Tan H.W., Wang X.H., Jiang J.Q., Fang W.Y., Liu X.
    Eur. J. Med. Genet. 55:520-526(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS ARG-15 AND SER-235, CHARACTERIZATION OF VARIANT SER-235, FUNCTION.
  • Ref.18

    "Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation."
    Li J., Liu W.D., Yang Z.L., Yang Y.Q.
    Int. J. Mol. Med. 30:783-790(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT VAL-469, CHARACTERIZATION OF VARIANT VAL-469, FUNCTION.
  • Ref.20

    "Gain-of-function mutations in GATA6 lead to atrial fibrillation."
    Tucker N.R., Mahida S., Ye J., Abraham E.J., Mina J.A., Parsons V.A., McLellan M.A., Shea M.A., Hanley A., Benjamin E.J., Milan D.J., Lin H., Ellinor P.T.
    Heart Rhythm 14:284-291(2017) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS SER-91; THR-177; GLY-543 AND LEU-585, CHARACTERIZATION OF VARIANTS SER-91; THR-177; GLY-543 AND LEU-585, FUNCTION, SUBCELLULAR LOCATION.
• positive regulation of transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayⁱ
  • Ref.11

    "GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling."
    Kodo K., Nishizawa T., Furutani M., Arai S., Yamamura E., Joo K., Takahashi T., Matsuoka R., Yamagishi H.
    Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT CTHM HIS-466, VARIANT ARG-15, CHARACTERIZATION OF VARIANT CTHM HIS-466.
• positive regulation of transforming growth factor beta activation Source: UniProtKBInferred from direct assayⁱ
  • Ref.14

    "Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit and acne pathogenesis."
    Oules B., Philippeos C., Segal J., Tihy M., Vietri Rudan M., Cujba A.M., Grange P.A., Quist S., Natsuga K., Deschamps L., Dupin N., Donati G., Watt F.M.
    Nat. Commun. 11:5067-5067(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION BY CUTIBACTERIUM ACNES.
• regulation of antimicrobial humoral response Source: UniProtKBInferred from direct assayⁱ
  • Ref.14

    "Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit and acne pathogenesis."
    Oules B., Philippeos C., Segal J., Tihy M., Vietri Rudan M., Cujba A.M., Grange P.A., Quist S., Natsuga K., Deschamps L., Dupin N., Donati G., Watt F.M.
    Nat. Commun. 11:5067-5067(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION BY CUTIBACTERIUM ACNES.
• regulation of transcription by RNA polymerase II Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• response to drug Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Statins activate GATA-6 and induce differentiated vascular smooth muscle cells."
    Wada H., Abe M., Ono K., Morimoto T., Kawamura T., Takaya T., Satoh N., Fujita M., Kita T., Shimatsu A., Hasegawa K.
    Biochem Biophys Res Commun 374:731-736(2008) [PubMed] [Europe PMC] [Abstract]
• response to estrogen Source: Ensembl
• response to growth factor Source: UniProtKBInferred from direct assayⁱ
  • "GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling."
    Froese N., Kattih B., Breitbart A., Grund A., Geffers R., Molkentin J.D., Kispert A., Wollert K.C., Drexler H., Heineke J.
    J Biol Chem 286:5680-5690(2011) [PubMed] [Europe PMC] [Abstract]
• response to retinoic acid Source: UniProtKBInferred from direct assayⁱ
  • Ref.14

    "Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit and acne pathogenesis."
    Oules B., Philippeos C., Segal J., Tihy M., Vietri Rudan M., Cujba A.M., Grange P.A., Quist S., Natsuga K., Deschamps L., Dupin N., Donati G., Watt F.M.
    Nat. Commun. 11:5067-5067(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION BY CUTIBACTERIUM ACNES.
• sebaceous gland cell differentiation Source: UniProtKBInferred from direct assayⁱ
  • Ref.14

    "Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit and acne pathogenesis."
    Oules B., Philippeos C., Segal J., Tihy M., Vietri Rudan M., Cujba A.M., Grange P.A., Quist S., Natsuga K., Deschamps L., Dupin N., Donati G., Watt F.M.
    Nat. Commun. 11:5067-5067(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION BY CUTIBACTERIUM ACNES.
• skin epidermis development Source: UniProtKBInferred from direct assayⁱ
  • Ref.14

    "Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit and acne pathogenesis."
    Oules B., Philippeos C., Segal J., Tihy M., Vietri Rudan M., Cujba A.M., Grange P.A., Quist S., Natsuga K., Deschamps L., Dupin N., Donati G., Watt F.M.
    Nat. Commun. 11:5067-5067(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION BY CUTIBACTERIUM ACNES.
• smooth muscle cell differentiation Source: UniProtKBInferred from mutant phenotypeⁱ
  • "GATA-6 mediates human bladder smooth muscle differentiation: involvement of a novel enhancer element in regulating alpha-smooth muscle actin gene expression."
    Kanematsu A., Ramachandran A., Adam R.M.
    Am J Physiol Cell Physiol 293:C1093-102(2007) [PubMed] [Europe PMC] [Abstract]
• tube morphogenesis Source: Ensembl
• type B pancreatic cell differentiation Source: Ensembl
• type II pneumocyte differentiation Source: Ensembl

<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

Enzyme and pathway databases

<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

Organism-specific databases

<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

• UniProt annotation
• GO - Cellular component

Keywords - Cellular componentⁱ

<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">OMIM</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

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<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

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<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">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductionⁱ

Gene expression databases

Organism-specific databases

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

GO - Molecular functionⁱ

• protein kinase binding Source: UniProtKBInferred from physical interactionⁱ
  • "PTEN differentially regulates expressions of ICAM-1 and VCAM-1 through PI3K/Akt/GSK-3beta/GATA-6 signaling pathways in TNF-alpha-activated human endothelial cells."
    Tsoyi K., Jang H.J., Nizamutdinova I.T., Park K., Kim Y.M., Kim H.J., Seo H.G., Lee J.H., Chang K.C.
    Atherosclerosis 213:115-121(2010) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II repressing transcription factor binding Source: Ensembl
• transcription factor binding Source: UniProtKBInferred from physical interactionⁱ
  • "GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1."
    Fluck C.E., Miller W.L.
    Mol Endocrinol 18:1144-1157(2004) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

Miscellaneous databases

<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

<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

Region

Compositional bias

<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

Zinc finger

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<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 <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

        10         20         30         40         50
MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG 
        60         70         80         90        100
ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA 
       110        120        130        140        150
GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT 
       160        170        180        190        200
LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG 
       210        220        230        240        250
LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG 
       260        270        280        290        300
GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL 
       310        320        330        340        350
AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP 
       360        370        380        390        400
AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL 
       410        420        430        440        450
WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT 
       460        470        480        490        500
TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK 
       510        520        530        540        550
SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG 
       560        570        580        590 
ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA      

        10         20         30         40         50
MYQTLAALSS QGPAAYDGAP GGFVHSAAAA AAAAAAASSP VYVPTTRVGS 
        60         70         80         90        100
MLPGLPYHLQ GSGSGPANHA GGAGAHPGWP QASADSPPYG SGGGAAGGGA 
       110        120        130        140        150
AGPGGAGSAA AHVSARFPYS PSPPMANGAA REPGGYAAAG SGGAGGVSGG 
       160        170        180        190        200
GSSLAAMGGR EPQYSSLSAA RPLNGTYHHH HHHHHHHPSP YSPYVGAPLT 
       210        220        230        240        250
PAWPAGPFET PVLHSLQSRA GAPLPVPRGP SADLLEDLSE SRECVNCGSI 
       260        270        280        290        300
QTPLWRRDGT GHYLCNACGL YSKMNGLSRP LIKPQKRVPS SRRLGLSCAN 
       310        320        330        340        350
CHTTTTTLWR RNAEGEPVCN ACGLYMKLHG VPRPLAMKKE GIQTRKRKPK 
       360        370        380        390        400
NINKSKTCSG NSNNSIPMTP TSTSSNSDDC SKNTSPTTQP TASGAGAPVM 
       410        420        430        440 
TGAGESTNPE NSELKYSGQD GLYIGVSLAS PAEVTSSVRP DSWCALALA  

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<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

• 100% Identity
• 90% Identity
• 50% Identity

<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%5Freferences%5Fsection">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

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Keywords - Technical termⁱ

Documents

1. Human chromosome 18
   Human chromosome 18: entries, gene names and cross-references to MIM
2. Human entries with genetic variants
   List of human entries with genetic variants
3. Human variants curated from literature reports
   Index of human variants curated from literature reports
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot