Reviewed,
UniProtKB/Swiss-Prot O75344 (FKBP6_HUMAN)
Last modified
November 25, 2008.
Version 75.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: FK506-binding protein 6 EC=5.2.1.8 Alternative name(s): Peptidyl-prolyl cis-trans isomerase Short name=PPIase Short name=Rotamase 36 kDa FK506-binding protein FKBP-36 Immunophilin FKBP36 | ||||
| Gene names |
| ||||
| 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 | 327 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | PPIases accelerate the folding of proteins. |
| Catalytic activity | Peptidylproline (omega=180) = peptidylproline (omega=0). |
| Tissue specificity | Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney. |
| Involvement in disease | Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]; a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23. |
| Sequence similarities | Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats. |
Ontologies
Keywords | |
|---|---|
| Disease | Williams-Beuren syndrome |
| Domain | Repeat TPR repeat |
| Molecular function | Isomerase Rotamase |
| Technical term | 3D-structure |
Gene Ontology (GO) | |
| Biological process | protein folding Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | FK506 binding Ref.1 Traceable author statement. Source: ProtInc peptidyl-prolyl cis-trans isomerase activityInferred 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 – 327 | 327 | FK506-binding protein 6 | PRO_0000075329 | |||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||
| Domain | 54 – 143 | 90 | PPIase FKBP-type | ||||||||||||||||||||||||||
| Repeat | 171 – 204 | 34 | TPR 1 | ||||||||||||||||||||||||||
| Repeat | 219 – 252 | 34 | TPR 2 | ||||||||||||||||||||||||||
| Repeat | 253 – 286 | 34 | TPR 3 | ||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||
| Helix | 21 – 25 | 5 | |||||||||||||||||||||||||||
| Turn | 26 – 28 | 3 | |||||||||||||||||||||||||||
| Beta strand | 30 – 44 | 15 | |||||||||||||||||||||||||||
| Beta strand | 47 – 50 | 4 | |||||||||||||||||||||||||||
| Beta strand | 56 – 64 | 9 | |||||||||||||||||||||||||||
| Beta strand | 72 – 74 | 3 | |||||||||||||||||||||||||||
| Helix | 93 – 100 | 8 | |||||||||||||||||||||||||||
| Beta strand | 107 – 112 | 6 | |||||||||||||||||||||||||||
| Helix | 114 – 116 | 3 | |||||||||||||||||||||||||||
| Turn | 117 – 121 | 5 | |||||||||||||||||||||||||||
| Turn | 124 – 126 | 3 | |||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel human gene FKBP6 is deleted in Williams syndrome." Meng X., Lu X., Morris C.A., Keating M.T. Genomics 52:130-137(1998) [PubMed: 9782077] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Testis. |
| [2] | "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: Brain. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AF038847 mRNA. Translation: AAC64249.1. BC036817 mRNA. Translation: AAH36817.1. | |||||||||||||
| RefSeq | NP_003593.3. | ||||||||||||
| UniGene | Hs.661266 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | O75344. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O75344. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000077800. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 8468. | ||||||||||||
| KEGG | hsa:8468. | ||||||||||||
Organism-specific databases | |||||||||||||
| HGNC | HGNC:3722. FKBP6. | ||||||||||||
| MIM | 194050. phenotype. 604839. gene. | ||||||||||||
| Orphanet | 904. Williams syndrome. | ||||||||||||
| PharmGKB | PA28163. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
| GeneCards | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOGENOM | O75344. | ||||||||||||
| HOVERGEN | O75344. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O75344. | ||||||||||||
| CleanEx | HS_FKBP6. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR001179. PPIase_FKBP. IPR011990. TPR-like_helical. IPR013105. TPR_2. IPR013026. TPR_region. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.25.40.10. TPR-like_helical. 1 hit. | ||||||||||||
| PANTHER | PTHR10516. PPIase_FKBP. 1 hit. | ||||||||||||
| Pfam | PF00254. FKBP_C. 1 hit. PF07719. TPR_2. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS50059. FKBP_PPIASE. 1 hit. PS50005. TPR. False negative. PS50293. TPR_REGION. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| LinkHub | O75344. | ||||||||||||
| NextBio | 31692. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | FKBP6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75344 Secondary accession number(s): Q9UDS0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| 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


