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Protein

Peptidyl-prolyl cis-trans isomerase FKBP10

Gene

FKBP10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Calcium bindingi510 – 5211PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi555 – 5662PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIsomerase, Rotamase
LigandCalcium, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18169. FKBP10.

Subcellular locationi

  • Endoplasmic reticulum lumen PROSITE-ProRule annotation

GO - Cellular componenti

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 11 (OI11)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610968
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063601107 – 117Missing in OI11. Add BLAST11
Bruck syndrome 1 (BRKS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:259450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069902113E → K in BRKS1. 1 PublicationCorresponds to variant dbSNP:rs397514674Ensembl.1
Natural variantiVAR_069903115R → Q in BRKS1. 2 PublicationsCorresponds to variant dbSNP:rs387906960Ensembl.1
Natural variantiVAR_069904136P → L in BRKS1. 1 PublicationCorresponds to variant dbSNP:rs782653042Ensembl.1

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta

Organism-specific databases

DisGeNETi60681.
MalaCardsiFKBP10.
MIMi259450. phenotype.
610968. phenotype.
OpenTargetsiENSG00000141756.
Orphaneti1149. Arthrogryposis-like syndrome.
2771. Bruck syndrome.
216828. Osteogenesis imperfecta type 5.
PharmGKBiPA28152.

Polymorphism and mutation databases

BioMutaiFKBP10.
DMDMi23396594.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000002551727 – 582Peptidyl-prolyl cis-trans isomerase FKBP10Add BLAST556

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi70N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi182N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi294N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi310N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi352N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi393N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi407N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

Glycosylated and phosphorylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ96AY3.
MaxQBiQ96AY3.
PaxDbiQ96AY3.
PeptideAtlasiQ96AY3.
PRIDEiQ96AY3.
TopDownProteomicsiQ96AY3-1. [Q96AY3-1]

PTM databases

iPTMnetiQ96AY3.
PhosphoSitePlusiQ96AY3.
SwissPalmiQ96AY3.

Expressioni

Gene expression databases

BgeeiENSG00000141756.
CleanExiHS_FKBP10.
ExpressionAtlasiQ96AY3. baseline and differential.
GenevisibleiQ96AY3. HS.

Organism-specific databases

HPAiHPA051171.
HPA057021.

Interactioni

Protein-protein interaction databases

BioGridi121955. 26 interactors.
IntActiQ96AY3. 5 interactors.
STRINGi9606.ENSP00000317232.

Structurei

3D structure databases

ProteinModelPortaliQ96AY3.
SMRiQ96AY3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini62 – 150PPIase FKBP-type 1PROSITE-ProRule annotationAdd BLAST89
Domaini174 – 262PPIase FKBP-type 2PROSITE-ProRule annotationAdd BLAST89
Domaini286 – 374PPIase FKBP-type 3PROSITE-ProRule annotationAdd BLAST89
Domaini399 – 486PPIase FKBP-type 4PROSITE-ProRule annotationAdd BLAST88
Domaini497 – 532EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini542 – 577EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi579 – 582Prevents secretion from ERPROSITE-ProRule annotation4

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG0549. Eukaryota.
COG0545. LUCA.
GeneTreeiENSGT00530000062784.
HOGENOMiHOG000230960.
HOVERGENiHBG051620.
InParanoidiQ96AY3.
KOiK09575.
OrthoDBiEOG091G02W1.
PhylomeDBiQ96AY3.
TreeFamiTF105296.

Family and domain databases

CDDicd00051. EFh. 1 hit.
InterProiView protein in InterPro
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR026257. FK506_BP.
IPR023566. PPIase_FKBP.
IPR001179. PPIase_FKBP_dom.
PANTHERiPTHR10516. PTHR10516. 1 hit.
PfamiView protein in Pfam
PF13202. EF-hand_5. 2 hits.
PF00254. FKBP_C. 4 hits.
PIRSFiPIRSF001473. FK506-bp_FPR3. 1 hit.
SMARTiView protein in SMART
SM00054. EFh. 2 hits.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiView protein in PROSITE
PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00014. ER_TARGET. 1 hit.
PS50059. FKBP_PPIASE. 4 hits.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96AY3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MFPAGPPSHS LLRLPLLQLL LLVVQAVGRG LGRASPAGGP LEDVVIERYH
60 70 80 90 100
IPRACPREVQ MGDFVRYHYN GTFEDGKKFD SSYDRNTLVA IVVGVGRLIT
110 120 130 140 150
GMDRGLMGMC VNERRRLIVP PHLGYGSIGL AGLIPPDATL YFDVVLLDVW
160 170 180 190 200
NKEDTVQVST LLRPPHCPRM VQDGDFVRYH YNGTLLDGTS FDTSYSKGGT
210 220 230 240 250
YDTYVGSGWL IKGMDQGLLG MCPGERRKII IPPFLAYGEK GYGTVIPPQA
260 270 280 290 300
SLVFHVLLID VHNPKDAVQL ETLELPPGCV RRAGAGDFMR YHYNGSLMDG
310 320 330 340 350
TLFDSSYSRN HTYNTYIGQG YIIPGMDQGL QGACMGERRR ITIPPHLAYG
360 370 380 390 400
ENGTGDKIPG SAVLIFNVHV IDFHNPADVV EIRTLSRPSE TCNETTKLGD
410 420 430 440 450
FVRYHYNCSL LDGTQLFTSH DYGAPQEATL GANKVIEGLD TGLQGMCVGE
460 470 480 490 500
RRQLIVPPHL AHGESGARGV PGSAVLLFEV ELVSREDGLP TGYLFVWHKD
510 520 530 540 550
PPANLFEDMD LNKDGEVPPE EFSTFIKAQV SEGKGRLMPG QDPEKTIGDM
560 570 580
FQNQDRNQDG KITVDELKLK SDEDEERVHE EL
Length:582
Mass (Da):64,245
Last modified:December 1, 2001 - v1
Checksum:i98257459158407C2
GO
Isoform 2 (identifier: Q96AY3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2-177: Missing.
     184-212: TLLDGTSFDTSYSKGGTYDTYVGSGWLIK → SLMDGTLFDSSYSRNHTYNTYIGQGYIIP
     219-303: LGMCPGERRK...NGSLMDGTLF → QGACMGERRR...VKWASHADPQ
     304-354: Missing.

Note: No experimental confirmation available.
Show »
Length:355
Mass (Da):38,950
Checksum:iDBECF4B8618BF54F
GO

Sequence cautioni

The sequence BAB15220 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD97695 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti190S → F in BAB20974 (PubMed:16303743).Curated1
Sequence conflicti456V → L in CAD97695 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063601107 – 117Missing in OI11. Add BLAST11
Natural variantiVAR_069902113E → K in BRKS1. 1 PublicationCorresponds to variant dbSNP:rs397514674Ensembl.1
Natural variantiVAR_069903115R → Q in BRKS1. 2 PublicationsCorresponds to variant dbSNP:rs387906960Ensembl.1
Natural variantiVAR_069904136P → L in BRKS1. 1 PublicationCorresponds to variant dbSNP:rs782653042Ensembl.1
Natural variantiVAR_050625197K → R. Corresponds to variant dbSNP:rs34764749Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0564252 – 177Missing in isoform 2. 1 PublicationAdd BLAST176
Alternative sequenceiVSP_056426184 – 212TLLDG…GWLIK → SLMDGTLFDSSYSRNHTYNT YIGQGYIIP in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_056427219 – 303LGMCP…DGTLF → QGACMGERRRITIPPHLAYG ENGTDSIGFLQGSAPLRPFR SGEGQPSLGREGGYGKTEPA YPQDPAVLGASVSSPVKWAS HADPQ in isoform 2. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_056428304 – 354Missing in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF337909 mRNA. Translation: AAM15770.1.
AK025694 mRNA. Translation: BAB15220.1. Different initiation.
AK025874 mRNA. Translation: BAB15266.1.
AB045981 mRNA. Translation: BAB20974.1.
BX537452 mRNA. Translation: CAD97695.1. Different initiation.
AL133116 mRNA. Translation: CAB61418.1.
AC091172 Genomic DNA. No translation available.
BC016467 mRNA. Translation: AAH16467.1.
CCDSiCCDS11409.1. [Q96AY3-1]
PIRiT42709.
RefSeqiNP_068758.3. NM_021939.3. [Q96AY3-1]
UniGeneiHs.463035.

Genome annotation databases

EnsembliENST00000321562; ENSP00000317232; ENSG00000141756. [Q96AY3-1]
GeneIDi60681.
KEGGihsa:60681.
UCSCiuc002hxv.3. human. [Q96AY3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFKB10_HUMAN
AccessioniPrimary (citable) accession number: Q96AY3
Secondary accession number(s): Q7Z3R4
, Q9H3N3, Q9H6J3, Q9H6N5, Q9UF89
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: December 1, 2001
Last modified: August 30, 2017
This is version 159 of the entry and version 1 of the sequence. See 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