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Q96AY3

- FKB10_HUMAN

UniProt

Q96AY3 - FKB10_HUMAN

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Protein

Peptidyl-prolyl cis-trans isomerase FKBP10

Gene
FKBP10, FKBP65, PSEC0056
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

PPIases accelerate the folding of proteins during protein synthesis.

Catalytic activityi

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

Enzyme regulationi

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi510 – 521121 Reviewed predictionAdd
BLAST
Calcium bindingi555 – 566122 Reviewed predictionAdd
BLAST

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. FK506 binding Source: RefGenome
  3. peptidyl-prolyl cis-trans isomerase activity Source: RefGenome

GO - Biological processi

  1. chaperone-mediated protein folding Source: RefGenome
  2. protein peptidyl-prolyl isomerization Source: RefGenome
Complete GO annotation...

Keywords - Molecular functioni

Isomerase, Rotamase

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Peptidyl-prolyl cis-trans isomerase FKBP10 (EC:5.2.1.8)
Short name:
PPIase FKBP10
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 namesi
Name:FKBP10
Synonyms:FKBP65
ORF Names:PSEC0056
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:18169. FKBP10.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum lumen Source: UniProtKB-SubCell
  2. endoplasmic reticulum membrane Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 11711Missing in OI11.
VAR_063601Add
BLAST
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131E → K in BRKS1. 1 Publication
VAR_069902
Natural varianti115 – 1151R → Q in BRKS1. 2 Publications
VAR_069903
Natural varianti136 – 1361P → L in BRKS1. 1 Publication
VAR_069904

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta

Organism-specific databases

MIMi259450. phenotype.
610968. phenotype.
Orphaneti1149. Arthrogryposis-like syndrome.
2771. Bruck syndrome.
216828. Osteogenesis imperfecta type 5.
PharmGKBiPA28152.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626 Reviewed predictionAdd
BLAST
Chaini27 – 582556Peptidyl-prolyl cis-trans isomerase FKBP10PRO_0000025517Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi70 – 701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi182 – 1821N-linked (GlcNAc...)2 Publications
Glycosylationi294 – 2941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi310 – 3101N-linked (GlcNAc...) Reviewed prediction
Glycosylationi352 – 3521N-linked (GlcNAc...) Reviewed prediction
Glycosylationi393 – 3931N-linked (GlcNAc...) Reviewed prediction
Glycosylationi407 – 4071N-linked (GlcNAc...)1 Publication

Post-translational modificationi

Glycosylated and phosphorylated By similarity.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ96AY3.
PaxDbiQ96AY3.
PeptideAtlasiQ96AY3.
PRIDEiQ96AY3.

PTM databases

PhosphoSiteiQ96AY3.

Expressioni

Gene expression databases

ArrayExpressiQ96AY3.
BgeeiQ96AY3.
CleanExiHS_FKBP10.
GenevestigatoriQ96AY3.

Organism-specific databases

HPAiHPA051171.

Interactioni

Protein-protein interaction databases

BioGridi121955. 20 interactions.
IntActiQ96AY3. 3 interactions.
STRINGi9606.ENSP00000317232.

Structurei

3D structure databases

ProteinModelPortaliQ96AY3.
SMRiQ96AY3. Positions 22-573.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini62 – 15089PPIase FKBP-type 1Add
BLAST
Domaini174 – 26289PPIase FKBP-type 2Add
BLAST
Domaini286 – 37489PPIase FKBP-type 3Add
BLAST
Domaini399 – 48688PPIase FKBP-type 4Add
BLAST
Domaini497 – 53236EF-hand 1Add
BLAST
Domaini542 – 57736EF-hand 2Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi579 – 5824Prevents secretion from ER Reviewed prediction

Sequence similaritiesi

Contains 2 EF-hand domains.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiCOG0545.
HOGENOMiHOG000230960.
HOVERGENiHBG051620.
InParanoidiQ96AY3.
KOiK09575.
PhylomeDBiQ96AY3.
TreeFamiTF105296.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR023566. PPIase_FKBP.
IPR001179. PPIase_FKBP_dom.
[Graphical view]
PANTHERiPTHR10516. PTHR10516. 1 hit.
PfamiPF13202. EF-hand_5. 2 hits.
PF00254. FKBP_C. 4 hits.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00014. ER_TARGET. 1 hit.
PS50059. FKBP_PPIASE. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96AY3-1 [UniParc]FASTAAdd to Basket

« Hide

MFPAGPPSHS LLRLPLLQLL LLVVQAVGRG LGRASPAGGP LEDVVIERYH    50
IPRACPREVQ MGDFVRYHYN GTFEDGKKFD SSYDRNTLVA IVVGVGRLIT 100
GMDRGLMGMC VNERRRLIVP PHLGYGSIGL AGLIPPDATL YFDVVLLDVW 150
NKEDTVQVST LLRPPHCPRM VQDGDFVRYH YNGTLLDGTS FDTSYSKGGT 200
YDTYVGSGWL IKGMDQGLLG MCPGERRKII IPPFLAYGEK GYGTVIPPQA 250
SLVFHVLLID VHNPKDAVQL ETLELPPGCV RRAGAGDFMR YHYNGSLMDG 300
TLFDSSYSRN HTYNTYIGQG YIIPGMDQGL QGACMGERRR ITIPPHLAYG 350
ENGTGDKIPG SAVLIFNVHV IDFHNPADVV EIRTLSRPSE TCNETTKLGD 400
FVRYHYNCSL LDGTQLFTSH DYGAPQEATL GANKVIEGLD TGLQGMCVGE 450
RRQLIVPPHL AHGESGARGV PGSAVLLFEV ELVSREDGLP TGYLFVWHKD 500
PPANLFEDMD LNKDGEVPPE EFSTFIKAQV SEGKGRLMPG QDPEKTIGDM 550
FQNQDRNQDG KITVDELKLK SDEDEERVHE EL 582
Length:582
Mass (Da):64,245
Last modified:December 1, 2001 - v1
Checksum:i98257459158407C2
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 11711Missing in OI11.
VAR_063601Add
BLAST
Natural varianti113 – 1131E → K in BRKS1. 1 Publication
VAR_069902
Natural varianti115 – 1151R → Q in BRKS1. 2 Publications
VAR_069903
Natural varianti136 – 1361P → L in BRKS1. 1 Publication
VAR_069904
Natural varianti197 – 1971K → R.
Corresponds to variant rs34764749 [ dbSNP | Ensembl ].
VAR_050625

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti190 – 1901S → F in BAB20974. 1 Publication
Sequence conflicti456 – 4561V → L in CAD97695. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS11409.1.
PIRiT42709.
RefSeqiNP_068758.3. NM_021939.3.
UniGeneiHs.463035.

Genome annotation databases

EnsembliENST00000321562; ENSP00000317232; ENSG00000141756.
ENST00000568842; ENSP00000455335; ENSG00000261258.
GeneIDi60681.
KEGGihsa:60681.
UCSCiuc002hxv.2. human.

Polymorphism databases

DMDMi23396594.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Osteogenesis imperfecta variant database

Peptidyl-prolyl cis-trans isomerase FKBP10

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS11409.1.
PIRi T42709.
RefSeqi NP_068758.3. NM_021939.3.
UniGenei Hs.463035.

3D structure databases

ProteinModelPortali Q96AY3.
SMRi Q96AY3. Positions 22-573.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121955. 20 interactions.
IntActi Q96AY3. 3 interactions.
STRINGi 9606.ENSP00000317232.

PTM databases

PhosphoSitei Q96AY3.

Polymorphism databases

DMDMi 23396594.

Proteomic databases

MaxQBi Q96AY3.
PaxDbi Q96AY3.
PeptideAtlasi Q96AY3.
PRIDEi Q96AY3.

Protocols and materials databases

DNASUi 60681.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321562 ; ENSP00000317232 ; ENSG00000141756 .
ENST00000568842 ; ENSP00000455335 ; ENSG00000261258 .
GeneIDi 60681.
KEGGi hsa:60681.
UCSCi uc002hxv.2. human.

Organism-specific databases

CTDi 60681.
GeneCardsi GC17P039968.
HGNCi HGNC:18169. FKBP10.
HPAi HPA051171.
MIMi 259450. phenotype.
607063. gene.
610968. phenotype.
neXtProti NX_Q96AY3.
Orphaneti 1149. Arthrogryposis-like syndrome.
2771. Bruck syndrome.
216828. Osteogenesis imperfecta type 5.
PharmGKBi PA28152.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0545.
HOGENOMi HOG000230960.
HOVERGENi HBG051620.
InParanoidi Q96AY3.
KOi K09575.
PhylomeDBi Q96AY3.
TreeFami TF105296.

Miscellaneous databases

ChiTaRSi FKBP10. human.
GenomeRNAii 60681.
NextBioi 65504.
PROi Q96AY3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96AY3.
Bgeei Q96AY3.
CleanExi HS_FKBP10.
Genevestigatori Q96AY3.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
InterProi IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR023566. PPIase_FKBP.
IPR001179. PPIase_FKBP_dom.
[Graphical view ]
PANTHERi PTHR10516. PTHR10516. 1 hit.
Pfami PF13202. EF-hand_5. 2 hits.
PF00254. FKBP_C. 4 hits.
[Graphical view ]
SMARTi SM00054. EFh. 2 hits.
[Graphical view ]
PROSITEi PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00014. ER_TARGET. 1 hit.
PS50059. FKBP_PPIASE. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: VARIANT OI11 MET-107--117-LEU DEL.
  11. Cited for: VARIANT BRKS1 GLN-115, INVOLVEMENT IN OI11.
  12. Cited for: VARIANTS BRKS1 LYS-113; GLN-115 AND LEU-136, INVOLVEMENT IN OI11.

Entry informationi

Entry nameiFKB10_HUMAN
AccessioniPrimary (citable) accession number: Q96AY3
Secondary accession number(s): Q7Z3R4
, Q9H3N3, Q9H6N5, Q9UF89
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: December 1, 2001
Last modified: September 3, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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