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UniProtKB/Swiss-Prot entry O75344

[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name FKBP6_HUMAN
Primary accession number O75344
Secondary accession number Q9UDS0
Integrated into Swiss-Prot on February 21, 2001
Sequence was last modified on November 1, 1998 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 72)
Name and origin of the protein
Protein name FK506-binding protein 6
Synonyms EC 5.2.1.8
Peptidyl-prolyl cis-trans isomerase
PPIase
Rotamase
36 kDa FK506-binding protein
FKBP-36
Immunophilin FKBP36
Gene name
Name: FKBP6
Synonyms: FKBP36
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
 NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Testis;
DOI=10.1006/geno.1998.5412; PubMed=9782077 [NCBI, ExPASy, EBI, Israel, Japan]
Meng X., Lu X., Morris C.A., Keating M.T.;
"A novel human gene FKBP6 is deleted in Williams syndrome.";
Genomics 52:130-137(1998).
[2]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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.
  • 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.
  • SIMILARITY: Contains 1 PPIase FKBP-type domain.
  • SIMILARITY: Contains 3 TPR repeats.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF038847; AAC64249.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC036817; AAH36817.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_003593.3; -.
UniGene Hs.661266
3D structure databases
PDB
3B7X; X-ray; 2.10 A; A=12-144.[ExPASy / RCSB / EBI]
PDBsum 3B7X; -.
ModBase O75344.
PTM databases
PhosphoSite O75344; -.
Organism-specific databases
HGNC HGNC:3722; FKBP6.
GenAtlas FKBP6.
MIM 194050; phenotype. [NCBI / EBI]
604839; gene. [NCBI / EBI]
Orphanet 904; Williams syndrome.
PharmGKB PA28163; -.
GeneCards O75344.
Gene expression databases
ArrayExpress O75344; -.
CleanEx HS_FKBP6; -.
Ontologies
GO
GO:0005528; Molecular function: FK506 binding (traceable author statement from ProtInc).
GO:0006457; Biological process: protein folding (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR001179; PPIase_FKBP.
IPR011990; TPR-like_helical.
IPR013105; TPR_2.
IPR013026; TPR_region.
Graphical view of domain structure.
Gene3D G3DSA:1.25.40.10; TPR-like_helical; 1.
PANTHER PTHR10516; PPIase_FKBP; 1.
Pfam PF00254; FKBP_C; 1.
PF07719; TPR_2; 1.
Pfam graphical view of domain structure.
PROSITE PS50059; FKBP_PPIASE; 1.
PS50005; TPR; FALSE_NEG.
PS50293; TPR_REGION; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS O75344.
Genome annotation databases
Ensembl ENSG00000077800; Homo sapiens. [Contig view]
GeneID 8468; -.
KEGG hsa:8468; -.
Phylogenomic databases
HOGENOM O75344; -.
HOVERGEN O75344; -.
Other
LinkHub O75344; -.
SOURCE FKBP6; Homo sapiens.
ProtoNet O75344.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Isomerase; Repeat; Rotamase; TPR repeat; Williams-Beuren syndrome.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   327  327     FK506-binding protein 6. PRO_0000075329
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. 
Sequence information
Length: 327 AA [This is the length of the unprocessed precursor] Molecular weight: 37214 Da [This is the MW of the unprocessed precursor] CRC64: C137FA629B676623 [This is a checksum on the sequence] 
        10         20         30         40         50         60 
MGGSALNQGV LEGDDAPGQS LYERLSQRML DISGDRGVLK DVIREGAGDL VAPDASVLVK 

        70         80         90        100        110        120 
YSGYLEHMDR PFDSNYFRKT PRLMKLGEDI TLWGMELGLL SMRRGELARF LFKPNYAYGT 

       130        140        150        160        170        180 
LGCPPLIPPN TTVLFEIELL DFLDCAESDK FCALSAEQQD QFPLQKVLKV AATEREFGNY 

       190        200        210        220        230        240 
LFRQNRFYDA KVRYKRALLL LRRRSAPPEE QHLVEAAKLP VLLNLSFTYL KLDRPTIALC 

       250        260        270        280        290        300 
YGEQALIIDQ KNAKALFRCG QACLLLTEYQ KARDFLVRAQ KEQPFNHDIN NELKKLASCY 

       310        320 
RDYVDKEKEM WHRMFAPCGD GSTAGES
O75344 in FASTA format

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