Reviewed,
UniProtKB/Swiss-Prot O14901 (KLF11_HUMAN)
Last modified
November 3, 2009.
Version 96.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Krueppel-like factor 11 Alternative name(s): Transforming growth factor-beta-inducible early growth response protein 2 Short name=TGFB-inducible early growth response protein 2 Short name=TIEG-2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 512 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Transcription factor. Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth. Represses transcription of SMAD7 which enhances TGF-beta signaling. Induces apoptosis. Ref.2 |
| Subcellular location | |
| Tissue specificity | Ubiquitous. Higher expression in erythroid cells. Ref.2 |
| Induction | By TGF-beta. |
| Involvement in disease | Defects in KLF11 are the cause of maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]. MODY [MIM:606391] has an autosomal dominant inheritance, onset at age less than 25 years and a primary defect in insulin secretion. MODY pedigrees are usually multigenerational families with penetrance of 80 to 95%. Patients have a nonobese body habitus and the so-called metabolic syndrome characterized by diabetes, insulin resistance, hypertension, and hypertriglyceridemia is absent. Ref.5 |
| Sequence similarities | Belongs to the Sp1 C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers. |
| Caution | Ref.3 sequence was originally thought to originate from mouse. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Apoptosis Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism |
| Disease | Diabetes mellitus Disease mutation |
| Domain | Repeat Zinc-finger |
| Ligand | DNA-binding Metal-binding Zinc |
| Molecular function | Activator Repressor |
| Technical term | 3D-structure Complete proteome |
| Gene Ontology (GO) | |
| Biological process | apoptosis Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of cell proliferation Ref.1Traceable author statement. Source: ProtInc negative regulation of transcription from RNA polymerase II promoter Ref.1Traceable author statement. Source: ProtInc transcription from RNA polymerase II promoter Ref.1Traceable author statement. Source: ProtInc |
| Cellular component | nucleus Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | transcription factor activity Ref.1 Traceable author statement. Source: ProtInc zinc ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 512 | 512 | Krueppel-like factor 11 | PRO_0000047180 | |||||||
Regions | |||||||||||
| Zinc finger | 394 – 418 | 25 | C2H2-type 1 | ||||||||
| Zinc finger | 424 – 448 | 25 | C2H2-type 2 | ||||||||
| Zinc finger | 454 – 476 | 23 | C2H2-type 3 | ||||||||
Natural variations | |||||||||||
| Natural variant | 62 | 1 | Q → R High frequency in individuals with diabetes mellitus type 2; increased repression activity; increased binding to mSin3A; impairs activation of insulin promoter. dbSNP rs35927125. Ref.5 | VAR_031522 | |||||||
| Natural variant | 220 | 1 | T → M in MODY7; absent in one family member with diabetes; increased repression activity; no alteration in binding affinity to mSin3A. dbSNP rs34336420. Ref.5 | VAR_031523 | |||||||
| Natural variant | 347 | 1 | A → S in MODY7; increased repression activity; no alteration in binding affinity to mSin3A. Ref.5 | VAR_031524 | |||||||
| Natural variant | 378 | 1 | S → F: dbSNP rs35476458. | VAR_052717 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 125 | 1 | P → S Ref.3 | ||||||||
| Sequence conflict | 144 – 150 | 7 | VVARALS → QWPDSD Ref.3 | ||||||||
| Sequence conflict | 371 | 1 | P → L Ref.3 | ||||||||
| Sequence conflict | 415 | 1 | L → V Ref.3 | ||||||||
Secondary structure | |||||||||||
Helix Strand Turn | |||||||||||
| Helix | 43 – 49 | 7 | |||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and characterization of TIEG2 reveals a new subfamily of transforming growth factor-beta-inducible Sp1-like zinc finger-encoding genes involved in the regulation of cell growth." Cook T., Gebelein B., Mesa K., Mladek A., Urrutia R. J. Biol. Chem. 273:25929-25936(1998) [PubMed: 9748269] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION. Tissue: Pancreas. |
| [2] | "FKLF, a novel Kruppel-like factor that activates human embryonic and fetal beta-like globin genes." Asano H., Li X.S., Stamatoyannopoulos G. Mol. Cell. Biol. 19:3571-3579(1999) [PubMed: 10207080] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY. Tissue: Erythroid cell. |
| [3] | "Identification of KLF13 and KLF14 (SP6), novel members of the SP/XKLF transcription factor family." Scohy S., Gabant P., Van Reeth T., Hertveldt V., Dreze P.-L., Van Vooren P., Riviere M., Szpirer J., Szpirer C. Genomics 70:93-101(2000) [PubMed: 11087666] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Hepatoma. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta. |
| [5] | "Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function." Neve B., Fernandez-Zapico M.E., Ashkenazi-Katalan V., Dina C., Hamid Y.H., Joly E., Vaillant E., Benmezroua Y., Durand E., Bakaher N., Delannoy V., Vaxillaire M., Cook T., Dallinga-Thie G.M., Jansen H., Charles M.-A., Clement K., Galan P. Froguel P.Proc. Natl. Acad. Sci. U.S.A. 102:4807-4812(2005) [PubMed: 15774581] [Abstract] Cited for: VARIANTS MODY7 MET-220 AND SER-347, VARIANT ARG-62, CHARACTERIZATION OF VARIANTS MODY7 MET-220 AND SER-347, CHARACTERIZATION OF VARIANT ARG-62. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AF028008 mRNA. Translation: AAC61880.1. AF272830 mRNA. Translation: AAF75793.1. BC063286 mRNA. Translation: AAH63286.1. BC069383 mRNA. Translation: AAH69383.1. BC074922 mRNA. Translation: AAH74922.1. | |||||||||||||
| IPI | IPI00024692. | ||||||||||||
| RefSeq | NP_003588.1. | ||||||||||||
| UniGene | Hs.12229 Hs.694968 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | O14901. 1 interaction. | ||||||||||||
| STRING | O14901. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O14901. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | O14901. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000305883; ENSP00000307023; ENSG00000172059; Homo sapiens. [Genome view] ENST00000401510; ENSP00000386058; ENSG00000172059; Homo sapiens. [Genome view] ENST00000440320; ENSP00000388263; ENSG00000172059; Homo sapiens. [Genome view] ENST00000448523; ENSP00000387866; ENSG00000172059; Homo sapiens. [Genome view] | ||||||||||||
| GeneID | 8462. | ||||||||||||
| KEGG | hsa:8462. | ||||||||||||
| UCSC | uc002raf.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 8462. | ||||||||||||
| GeneCards | GC02P010100. | ||||||||||||
| H-InvDB | HIX0001814. | ||||||||||||
| HGNC | HGNC:11811. KLF11. | ||||||||||||
| MIM | 603301. gene. 606391. phenotype. 610508. phenotype. | ||||||||||||
| Orphanet | 552. MODY syndrome. | ||||||||||||
| PharmGKB | PA36518. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOGENOM | O14901. | ||||||||||||
| HOVERGEN | O14901. | ||||||||||||
| OMA | CSPKNYE. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O14901. | ||||||||||||
| Bgee | O14901. | ||||||||||||
| CleanEx | HS_KLF11. | ||||||||||||
| Genevestigator | O14901. | ||||||||||||
| GermOnline | ENSG00000172059. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 3 hits. | ||||||||||||
| Pfam | PF00096. zf-C2H2. 3 hits. [Graphical view] | ||||||||||||
| ProDom | PD000003. Znf_C2H2. 2 hits. [Graphical view] [Entries sharing at least one domain] | ||||||||||||
| SMART | SM00355. ZnF_C2H2. 3 hits. [Graphical view] | ||||||||||||
| PROSITE | PS00028. ZINC_FINGER_C2H2_1. 3 hits. PS50157. ZINC_FINGER_C2H2_2. 3 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 31670. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | KLF11_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O14901 Secondary accession number(s): Q9EPF4 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


