O14901 (KLF11_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
December 14, 2011.
Version 115.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames 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) | ||||
| 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. |
| 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 TGFB1. |
| Involvement in disease | Defects in KLF11 are the cause of maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. 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
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. Ref.5 Corresponds to variant rs35927125 [ dbSNP | Ensembl ]. | 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. Ref.5 Corresponds to variant rs34336420 [ dbSNP | Ensembl ]. | 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. Corresponds to variant rs35476458 [ dbSNP | Ensembl ]. | 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 | ||||||
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 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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_001171187.1. NM_001177716.1. NP_001171189.1. NM_001177718.1. NP_003588.1. NM_003597.4. | ||||||||||||
| UniGene | Hs.12229. Hs.694968. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | O14901. | ||||||||||||
| SMR | O14901. Positions 368-480. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | O14901. 6 interactions. | ||||||||||||
| MINT | MINT-2795353. | ||||||||||||
| STRING | O14901. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O14901. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | O14901. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000305883; ENSP00000307023; ENSG00000172059. | ||||||||||||
| GeneID | 8462. | ||||||||||||
| KEGG | hsa:8462. | ||||||||||||
| UCSC | uc002raf.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 8462. | ||||||||||||
| GeneCards | GC02P010100. | ||||||||||||
| H-InvDB | HIX0200263. | ||||||||||||
| HGNC | HGNC:11811. KLF11. | ||||||||||||
| MIM | 603301. gene. 606391. phenotype. 610508. phenotype. | ||||||||||||
| neXtProt | NX_O14901. | ||||||||||||
| Orphanet | 552. MODY syndrome. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | prNOG12506. | ||||||||||||
| HOGENOM | HBG713719. | ||||||||||||
| HOVERGEN | HBG052264. | ||||||||||||
| InParanoid | O14901. | ||||||||||||
| OMA | CSPKNYE. | ||||||||||||
| PhylomeDB | O14901. | ||||||||||||
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. | ||||||||||||
| KO | K09209. | ||||||||||||
| Pfam | PF00096. zf-C2H2. 3 hits. [Graphical view] | ||||||||||||
| 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 | |||||||||||||
| 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 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. | ||||||||
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