O14901 (KLF11_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 129.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·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) [Reference 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. |
| 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 | Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508]: 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. |
| 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
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O14901-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O14901-2) The sequence of this isoform differs from the canonical sequence as follows: 1-17: Missing. |
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 | |||||||||
| Alternative sequence | 1 – 17 | 17 | Missing in isoform 2. | VSP_042695 | |||||
| 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.8 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.8 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.8 | 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Hepatoma. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta. |
| [8] | "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] [Europe PMC] [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. AK302880 mRNA. Translation: BAG64059.1. AC104794 Genomic DNA. No translation available. CH471053 Genomic DNA. Translation: EAX00972.1. 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. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | O14901. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | O14901. 6 interactions. | ||||||||||||
| MINT | MINT-2795353. | ||||||||||||
| STRING | 9606.ENSP00000307023. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O14901. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | O14901. | ||||||||||||
| PRIDE | O14901. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000305883; ENSP00000307023; ENSG00000172059. ENST00000535335; ENSP00000442722; ENSG00000172059. ENST00000540845; ENSP00000444690; ENSG00000172059. | ||||||||||||
| GeneID | 8462. | ||||||||||||
| KEGG | hsa:8462. | ||||||||||||
| UCSC | uc002raf.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 8462. | ||||||||||||
| GeneCards | GC02P010182. | ||||||||||||
| HGNC | HGNC:11811. KLF11. | ||||||||||||
| MIM | 603301. gene. 606391. phenotype. 610508. phenotype. | ||||||||||||
| neXtProt | NX_O14901. | ||||||||||||
| Orphanet | 552. MODY syndrome. | ||||||||||||
| PharmGKB | PA36518. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG5048. | ||||||||||||
| HOGENOM | HOG000059558. | ||||||||||||
| HOVERGEN | HBG052264. | ||||||||||||
| InParanoid | O14901. | ||||||||||||
| KO | K09209. | ||||||||||||
| OMA | PQVDFSR. | ||||||||||||
| PhylomeDB | O14901. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O14901. | ||||||||||||
| Bgee | O14901. | ||||||||||||
| CleanEx | HS_KLF11. | ||||||||||||
| Genevestigator | O14901. | ||||||||||||
| GermOnline | ENSG00000172059. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 3.30.160.60. 3 hits. | ||||||||||||
| InterPro | IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [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 | |||||||||||||
| ChiTaRS | KLF11. human. | ||||||||||||
| GenomeRNAi | 8462. | ||||||||||||
| NextBio | 31670. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | KLF11_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O14901 Secondary accession number(s): B4DZE7, 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
