[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.

Protein-protein interaction databases

IntAct

O75344; 2.

PTM databases

PhosphoSite

O75344; -.

Organism-specific databases

GC07P072078; -.

HGNC:3722; FKBP6.

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:0005528;	Molecular function: FK506 binding (traceable author statement from ProtInc).
GO:0003755;	Molecular function: peptidyl-prolyl cis-trans isomerase activity (inferred from electronic annotation from UniProtKB-KW).
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).

Proteomics databases

PRIDE

O75344; -.

Genome annotation databases

Ensembl

ENSG00000077800; Homo sapiens. [Contig view]

GeneID

8468; -.

KEGG

hsa:8468; -.

Phylogenomic databases

HOGENOM

O75344; -.

HOVERGEN

O75344; -.

Other

O75344; -.

31692; -.

FKBP6; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Isomerase; Repeat; Rotamase; TPR repeat; Williams-Beuren syndrome.

Features

Feature table viewer

Feature aligner

`Key`	`From 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.`
`HELIX`	`21 25`	`5`
`TURN`	`26 28`	`3`
`STRAND`	`30 44`	`15`
`STRAND`	`47 50`	`4`
`STRAND`	`56 64`	`9`
`STRAND`	`72 74`	`3`
`HELIX`	`93 100`	`8`
`STRAND`	`107 112`	`6`
`HELIX`	`114 116`	`3`
`TURN`	`117 121`	`5`
`TURN`	`124 126`	`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

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools