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Q96AY3 (FKB10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peptidyl-prolyl cis-trans isomerase FKBP10

Short name=PPIase FKBP10
EC=5.2.1.8
Alternative name(s):
65 kDa FK506-binding protein
Short name=65 kDa FKBP
Short name=FKBP-65
FK506-binding protein 10
Short name=FKBP-10
Immunophilin FKBP65
Rotamase
Gene names
Name:FKBP10
Synonyms:FKBP65
ORF Names:PSEC0056
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length582 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).

Enzyme regulation

Inhibited by both FK506 and rapamycin, but not by cyclosporin A By similarity.

Subcellular location

Endoplasmic reticulum lumen By similarity.

Post-translational modification

Glycosylated and phosphorylated By similarity.

Involvement in disease

Osteogenesis imperfecta 11 (OI11) [MIM:610968]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12

Bruck syndrome 1 (BRKS1) [MIM:259450]: A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12

Sequence similarities

Contains 2 EF-hand domains.

Contains 4 PPIase FKBP-type domains.

Sequence caution

The sequence BAB15220.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAD97695.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 582556Peptidyl-prolyl cis-trans isomerase FKBP10
PRO_0000025517

Regions

Domain62 – 15089PPIase FKBP-type 1
Domain174 – 26289PPIase FKBP-type 2
Domain286 – 37489PPIase FKBP-type 3
Domain399 – 48688PPIase FKBP-type 4
Domain497 – 53236EF-hand 1
Domain542 – 57736EF-hand 2
Calcium binding510 – 521121 Potential
Calcium binding555 – 566122 Potential
Motif579 – 5824Prevents secretion from ER Potential

Amino acid modifications

Glycosylation701N-linked (GlcNAc...) Potential
Glycosylation1821N-linked (GlcNAc...) Ref.6 Ref.7
Glycosylation2941N-linked (GlcNAc...) Potential
Glycosylation3101N-linked (GlcNAc...) Potential
Glycosylation3521N-linked (GlcNAc...) Potential
Glycosylation3931N-linked (GlcNAc...) Potential
Glycosylation4071N-linked (GlcNAc...) Ref.6

Natural variations

Natural variant107 – 11711Missing in OI11.
VAR_063601
Natural variant1131E → K in BRKS1. Ref.12
VAR_069902
Natural variant1151R → Q in BRKS1. Ref.11 Ref.12
VAR_069903
Natural variant1361P → L in BRKS1. Ref.12
VAR_069904
Natural variant1971K → R.
Corresponds to variant rs34764749 [ dbSNP | Ensembl ].
VAR_050625

Experimental info

Sequence conflict1901S → F in BAB20974. Ref.2
Sequence conflict4561V → L in CAD97695. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q96AY3 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 98257459158407C2

FASTA58264,245
        10         20         30         40         50         60 
MFPAGPPSHS LLRLPLLQLL LLVVQAVGRG LGRASPAGGP LEDVVIERYH IPRACPREVQ 

        70         80         90        100        110        120 
MGDFVRYHYN GTFEDGKKFD SSYDRNTLVA IVVGVGRLIT GMDRGLMGMC VNERRRLIVP 

       130        140        150        160        170        180 
PHLGYGSIGL AGLIPPDATL YFDVVLLDVW NKEDTVQVST LLRPPHCPRM VQDGDFVRYH 

       190        200        210        220        230        240 
YNGTLLDGTS FDTSYSKGGT YDTYVGSGWL IKGMDQGLLG MCPGERRKII IPPFLAYGEK 

       250        260        270        280        290        300 
GYGTVIPPQA SLVFHVLLID VHNPKDAVQL ETLELPPGCV RRAGAGDFMR YHYNGSLMDG 

       310        320        330        340        350        360 
TLFDSSYSRN HTYNTYIGQG YIIPGMDQGL QGACMGERRR ITIPPHLAYG ENGTGDKIPG 

       370        380        390        400        410        420 
SAVLIFNVHV IDFHNPADVV EIRTLSRPSE TCNETTKLGD FVRYHYNCSL LDGTQLFTSH 

       430        440        450        460        470        480 
DYGAPQEATL GANKVIEGLD TGLQGMCVGE RRQLIVPPHL AHGESGARGV PGSAVLLFEV 

       490        500        510        520        530        540 
ELVSREDGLP TGYLFVWHKD PPANLFEDMD LNKDGEVPPE EFSTFIKAQV SEGKGRLMPG 

       550        560        570        580 
QDPEKTIGDM FQNQDRNQDG KITVDELKLK SDEDEERVHE EL 

« Hide

References

« Hide 'large scale' references
[1]"The human FK506-binding protein repertoire."
Rulten S., Kinloch R.A., Robinson C., Gettins L., Kay J.E.
Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Brain.
[2]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Teratocarcinoma.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Endometrial tumor and Uterus.
[4]"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: Brain.
[5]"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] OF 82-582.
[6]"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
Zhang H., Li X.-J., Martin D.B., Aebersold R.
Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION AT ASN-182 AND ASN-407.
[7]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182.
Tissue: Liver.
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta."
Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., Alikasifoglu M., Tuncbilek E., Orhan D., Bakar F.T., Zabel B., Superti-Furga A., Bruckner-Tuderman L., Curry C.J., Pyott S., Byers P.H., Eyre D.R., Baldridge D. expand/collapse author list , Lee B., Merrill A.E., Davis E.C., Cohn D.H., Akarsu N., Krakow D.
Am. J. Hum. Genet. 86:551-559(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OI11 MET-107--117-LEU DEL.
[11]"Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome."
Kelley B.P., Malfait F., Bonafe L., Baldridge D., Homan E., Symoens S., Willaert A., Elcioglu N., Van Maldergem L., Verellen-Dumoulin C., Gillerot Y., Napierala D., Krakow D., Beighton P., Superti-Furga A., De Paepe A., Lee B.
J. Bone Miner. Res. 26:666-672(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BRKS1 GLN-115, INVOLVEMENT IN OI11.
[12]"Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen."
Schwarze U., Cundy T., Pyott S.M., Christiansen H.E., Hegde M.R., Bank R.A., Pals G., Ankala A., Conneely K., Seaver L., Yandow S.M., Raney E., Babovic-Vuksanovic D., Stoler J., Ben-Neriah Z., Segel R., Lieberman S., Siderius L. expand/collapse author list , Al-Aqeel A., Hannibal M., Hudgins L., McPherson E., Clemens M., Sussman M.D., Steiner R.D., Mahan J., Smith R., Anyane-Yeboa K., Wynn J., Chong K., Uster T., Aftimos S., Sutton V.R., Davis E.C., Kim L.S., Weis M.A., Eyre D., Byers P.H.
Hum. Mol. Genet. 22:1-17(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BRKS1 LYS-113; GLN-115 AND LEU-136, INVOLVEMENT IN OI11.
+Additional computationally mapped references.

Web resources

Osteogenesis imperfecta variant database

Peptidyl-prolyl cis-trans isomerase FKBP10

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF337909 mRNA. Translation: AAM15770.1.
AB045981 mRNA. Translation: BAB20974.1.
BX537452 mRNA. Translation: CAD97695.1. Different initiation.
AL133116 mRNA. Translation: CAB61418.1.
BC016467 mRNA. Translation: AAH16467.1.
AK025694 mRNA. Translation: BAB15220.1. Different initiation.
CCDSCCDS11409.1.
PIRT42709.
RefSeqNP_068758.3. NM_021939.3.
UniGeneHs.463035.

3D structure databases

ProteinModelPortalQ96AY3.
SMRQ96AY3. Positions 22-573.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121955. 20 interactions.
IntActQ96AY3. 3 interactions.
STRING9606.ENSP00000317232.

PTM databases

PhosphoSiteQ96AY3.

Polymorphism databases

DMDM23396594.

Proteomic databases

MaxQBQ96AY3.
PaxDbQ96AY3.
PeptideAtlasQ96AY3.
PRIDEQ96AY3.

Protocols and materials databases

DNASU60681.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321562; ENSP00000317232; ENSG00000141756.
ENST00000568842; ENSP00000455335; ENSG00000261258.
GeneID60681.
KEGGhsa:60681.
UCSCuc002hxv.2. human.

Organism-specific databases

CTD60681.
GeneCardsGC17P039968.
HGNCHGNC:18169. FKBP10.
HPAHPA051171.
MIM259450. phenotype.
607063. gene.
610968. phenotype.
neXtProtNX_Q96AY3.
Orphanet1149. Arthrogryposis-like syndrome.
2771. Bruck syndrome.
216828. Osteogenesis imperfecta type 5.
PharmGKBPA28152.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0545.
HOGENOMHOG000230960.
HOVERGENHBG051620.
InParanoidQ96AY3.
KOK09575.
PhylomeDBQ96AY3.
TreeFamTF105296.

Gene expression databases

ArrayExpressQ96AY3.
BgeeQ96AY3.
CleanExHS_FKBP10.
GenevestigatorQ96AY3.

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.
PfamPF13202. EF-hand_5. 2 hits.
PF00254. FKBP_C. 4 hits.
[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. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFKBP10. human.
GenomeRNAi60681.
NextBio65504.
PROQ96AY3.
SOURCESearch...

Entry information

Entry nameFKB10_HUMAN
AccessionPrimary (citable) accession number: Q96AY3
Secondary accession number(s): Q7Z3R4 expand/collapse secondary AC list , Q9H3N3, Q9H6N5, Q9UF89
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 128 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

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM