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Q9NWM8 (FKB14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peptidyl-prolyl cis-trans isomerase FKBP14

Short name=PPIase FKBP14
EC=5.2.1.8
Alternative name(s):
22 kDa FK506-binding protein
Short name=22 kDa FKBP
Short name=FKBP-22
FK506-binding protein 14
Short name=FKBP-14
Rotamase
Gene names
Name:FKBP14
Synonyms:FKBP22
ORF Names:UNQ322/PRO381
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length211 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

PPIases accelerate the folding of proteins during protein synthesis.

Catalytic activity

Peptidylproline (omega=180) = peptidylproline (omega=0).

Subcellular location

Endoplasmic reticulum lumen Ref.5.

Involvement in disease

Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]: A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI-related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy; hearing impairment, which is predominantly sensorineural; normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 2 EF-hand domains.

Contains 1 PPIase FKBP-type domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Ref.4
Chain20 – 211192Peptidyl-prolyl cis-trans isomerase FKBP14
PRO_0000025521

Regions

Domain45 – 13591PPIase FKBP-type
Domain135 – 17036EF-hand 1
Domain179 – 21133EF-hand 2
Calcium binding148 – 159121 Potential
Calcium binding192 – 203122 Potential
Motif208 – 2114Prevents secretion from ER Potential

Amino acid modifications

Glycosylation1761N-linked (GlcNAc...) Potential

Secondary structure

.................................. 211
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9NWM8 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 858184954FE10029

FASTA21124,172
        10         20         30         40         50         60 
MRLFLWNAVL TLFVTSLIGA LIPEPEVKIE VLQKPFICHR KTKGGDLMLV HYEGYLEKDG 

        70         80         90        100        110        120 
SLFHSTHKHN NGQPIWFTLG ILEALKGWDQ GLKGMCVGEK RKLIIPPALG YGKEGKGKIP 

       130        140        150        160        170        180 
PESTLIFNID LLEIRNGPRS HESFQEMDLN DDWKLSKDEV KAYLKKEFEK HGAVVNESHH 

       190        200        210 
DALVEDIFDK EDEDKDGFIS AREFTYKHDE L 

« Hide

References

« Hide 'large scale' references
[1]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]"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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"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].
Tissue: Kidney.
[4]"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Zhang Z., Henzel W.J.
Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 20-34.
[5]"Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss."
Baumann M., Giunta C., Krabichler B., Ruschendorf F., Zoppi N., Colombi M., Bittner R.E., Quijano-Roy S., Muntoni F., Cirak S., Schreiber G., Zou Y., Hu Y., Romero N.B., Carlier R.Y., Amberger A., Deutschmann A., Straub V. expand/collapse author list , Rohrbach M., Steinmann B., Rostasy K., Karall D., Bonnemann C.G., Zschocke J., Fauth C.
Am. J. Hum. Genet. 90:201-216(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN EDSKMH, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY358643 mRNA. Translation: AAQ89006.1.
AK000738 mRNA. Translation: BAA91351.1.
BC005206 mRNA. Translation: AAH05206.1.
RefSeqNP_060416.1. NM_017946.3.
UniGeneHs.390838.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4DIPX-ray1.82A/B/C/D/E/F/G/H/I/J19-138[»]
4MSPX-ray1.90A/B21-211[»]
ProteinModelPortalQ9NWM8.
SMRQ9NWM8. Positions 19-138, 140-205.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120362. 5 interactions.
IntActQ9NWM8. 3 interactions.
MINTMINT-8247492.
STRING9606.ENSP00000222803.

Chemistry

BindingDBQ9NWM8.
ChEMBLCHEMBL2342.

PTM databases

PhosphoSiteQ9NWM8.

Polymorphism databases

DMDM23821568.

Proteomic databases

PaxDbQ9NWM8.
PRIDEQ9NWM8.

Protocols and materials databases

DNASU55033.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000222803; ENSP00000222803; ENSG00000106080.
GeneID55033.
KEGGhsa:55033.
UCSCuc003tal.2. human.

Organism-specific databases

CTD55033.
GeneCardsGC07M030050.
HGNCHGNC:18625. FKBP14.
HPAHPA013329.
HPA026829.
MIM614505. gene.
614557. phenotype.
neXtProtNX_Q9NWM8.
Orphanet300179. Ehlers-Danlos syndrome, kyphoscoliotic and deafness type.
PharmGKBPA38608.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0545.
HOGENOMHOG000154887.
HOVERGENHBG051623.
InParanoidQ9NWM8.
KOK09577.
OMAMMLVHYE.
OrthoDBEOG7T1R9S.
PhylomeDBQ9NWM8.
TreeFamTF105296.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ9NWM8.
BgeeQ9NWM8.
CleanExHS_FKBP14.
GenevestigatorQ9NWM8.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR023566. PPIase_FKBP.
IPR001179. PPIase_FKBP_dom.
[Graphical view]
PANTHERPTHR10516. PTHR10516. 1 hit.
PfamPF13499. EF-hand_7. 1 hit.
PF00254. FKBP_C. 1 hit.
[Graphical view]
SMARTSM00054. EFh. 2 hits.
[Graphical view]
PROSITEPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00014. ER_TARGET. 1 hit.
PS50059. FKBP_PPIASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55033.
NextBio58455.
PROQ9NWM8.
SOURCESearch...

Entry information

Entry nameFKB14_HUMAN
AccessionPrimary (citable) accession number: Q9NWM8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM