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UniProtKB - Q9NWM8 (FKB14_HUMAN)
Protein
Peptidyl-prolyl cis-trans isomerase FKBP14
Gene
FKBP14
Organism
Homo sapiens (Human)
Status
Functioni
PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.
1 PublicationCatalytic activityi
- EC:5.2.1.81 Publication
Activity regulationi
Inhibited by tacrolimus/FK506.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 148 – 159 | 1PROSITE-ProRule annotationCombined sources1 Publication1 PublicationAdd BLAST | 12 | |
Calcium bindingi | 192 – 203 | 2PROSITE-ProRule annotationCombined sources1 Publication1 PublicationAdd BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
- peptidyl-prolyl cis-trans isomerase activity Source: UniProtKB-KW
Keywordsi
Molecular function | Isomerase, Rotamase |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
BRENDAi | 5.2.1.8, 2681 |
PathwayCommonsi | Q9NWM8 |
Reactomei | R-HSA-381038, XBP1(S) activates chaperone genes |
SignaLinki | Q9NWM8 |
Names & Taxonomyi
Protein namesi | Recommended name: Peptidyl-prolyl cis-trans isomerase FKBP14 (EC:5.2.1.81 Publication)Short name: PPIase FKBP14 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 namesi | Name:FKBP14 Synonyms:FKBP22 ORF Names:UNQ322/PRO381 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18625, FKBP14 |
MIMi | 614505, gene |
neXtProti | NX_Q9NWM8 |
VEuPathDBi | HostDB:ENSG00000106080 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum lumen PROSITE-ProRule annotation1 Publication
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Keywords - Cellular componenti
Endoplasmic reticulumPathology & Biotechi
Involvement in diseasei
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine.
Related information in OMIMKeywords - Diseasei
Deafness, Ehlers-Danlos syndromeOrganism-specific databases
DisGeNETi | 55033 |
GeneReviewsi | FKBP14 |
MalaCardsi | FKBP14 |
MIMi | 614557, phenotype |
OpenTargetsi | ENSG00000106080 |
Orphaneti | 300179, Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency |
PharmGKBi | PA38608 |
Miscellaneous databases
Pharosi | Q9NWM8, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2342 |
Genetic variation databases
BioMutai | FKBP14 |
DMDMi | 23821568 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | 1 PublicationAdd BLAST | 19 | |
ChainiPRO_0000025521 | 20 – 211 | Peptidyl-prolyl cis-trans isomerase FKBP14Add BLAST | 192 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 38 ↔ 96 | Combined sources1 Publication1 Publication | ||
Glycosylationi | 176 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q9NWM8 |
jPOSTi | Q9NWM8 |
MassIVEi | Q9NWM8 |
MaxQBi | Q9NWM8 |
PaxDbi | Q9NWM8 |
PeptideAtlasi | Q9NWM8 |
PRIDEi | Q9NWM8 |
ProteomicsDBi | 82955 |
PTM databases
GlyGeni | Q9NWM8, 1 site |
iPTMneti | Q9NWM8 |
PhosphoSitePlusi | Q9NWM8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000106080, Expressed in tibia and 219 other tissues |
ExpressionAtlasi | Q9NWM8, baseline and differential |
Genevisiblei | Q9NWM8, HS |
Organism-specific databases
HPAi | ENSG00000106080, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q9NWM8
With | #Exp. | IntAct |
---|---|---|
TMEM237 - isoform 2 [Q96Q45-2] | 3 | EBI-2477093,EBI-10982110 |
Protein-protein interaction databases
BioGRIDi | 120362, 80 interactors |
IntActi | Q9NWM8, 25 interactors |
MINTi | Q9NWM8 |
STRINGi | 9606.ENSP00000222803 |
Chemistry databases
BindingDBi | Q9NWM8 |
Miscellaneous databases
RNActi | Q9NWM8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9NWM8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 45 – 135 | PPIase FKBP-typePROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 135 – 170 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 179 – 211 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 33 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 208 – 211 | Prevents secretion from ERPROSITE-ProRule annotation | 4 |
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG0549, Eukaryota |
GeneTreei | ENSGT00940000157858 |
HOGENOMi | CLU_013615_5_0_1 |
InParanoidi | Q9NWM8 |
OMAi | CYRKSKY |
OrthoDBi | 1507309at2759 |
PhylomeDBi | Q9NWM8 |
TreeFami | TF105296 |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR001179, PPIase_FKBP_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit PF00254, FKBP_C, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 2 hits PS00014, ER_TARGET, 1 hit PS50059, FKBP_PPIASE, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9NWM8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MRLFLWNAVL TLFVTSLIGA LIPEPEVKIE VLQKPFICHR KTKGGDLMLV
60 70 80 90 100
HYEGYLEKDG SLFHSTHKHN NGQPIWFTLG ILEALKGWDQ GLKGMCVGEK
110 120 130 140 150
RKLIIPPALG YGKEGKGKIP PESTLIFNID LLEIRNGPRS HESFQEMDLN
160 170 180 190 200
DDWKLSKDEV KAYLKKEFEK HGAVVNESHH DALVEDIFDK EDEDKDGFIS
210
AREFTYKHDE L
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C1Z9 | H7C1Z9_HUMAN | Peptidylprolyl isomerase | FKBP14 | 89 | Annotation score: | ||
F8WBZ0 | F8WBZ0_HUMAN | Peptidyl-prolyl cis-trans isomerase... | FKBP14 | 66 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358643 mRNA Translation: AAQ89006.1 AK000738 mRNA Translation: BAA91351.1 BC005206 mRNA Translation: AAH05206.1 |
CCDSi | CCDS5423.1 |
RefSeqi | NP_060416.1, NM_017946.3 |
Genome annotation databases
Ensembli | ENST00000222803; ENSP00000222803; ENSG00000106080 |
GeneIDi | 55033 |
KEGGi | hsa:55033 |
MANE-Selecti | ENST00000222803.10; ENSP00000222803.5; NM_017946.4; NP_060416.1 |
UCSCi | uc003tal.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358643 mRNA Translation: AAQ89006.1 AK000738 mRNA Translation: BAA91351.1 BC005206 mRNA Translation: AAH05206.1 |
CCDSi | CCDS5423.1 |
RefSeqi | NP_060416.1, NM_017946.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4DIP | X-ray | 1.82 | A/B/C/D/E/F/G/H/I/J | 19-138 | [»] | |
4MSP | X-ray | 1.90 | A/B | 21-211 | [»] | |
SMRi | Q9NWM8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120362, 80 interactors |
IntActi | Q9NWM8, 25 interactors |
MINTi | Q9NWM8 |
STRINGi | 9606.ENSP00000222803 |
Chemistry databases
BindingDBi | Q9NWM8 |
ChEMBLi | CHEMBL2342 |
PTM databases
GlyGeni | Q9NWM8, 1 site |
iPTMneti | Q9NWM8 |
PhosphoSitePlusi | Q9NWM8 |
Genetic variation databases
BioMutai | FKBP14 |
DMDMi | 23821568 |
Proteomic databases
EPDi | Q9NWM8 |
jPOSTi | Q9NWM8 |
MassIVEi | Q9NWM8 |
MaxQBi | Q9NWM8 |
PaxDbi | Q9NWM8 |
PeptideAtlasi | Q9NWM8 |
PRIDEi | Q9NWM8 |
ProteomicsDBi | 82955 |
Protocols and materials databases
Antibodypediai | 2831, 217 antibodies from 26 providers |
DNASUi | 55033 |
Genome annotation databases
Ensembli | ENST00000222803; ENSP00000222803; ENSG00000106080 |
GeneIDi | 55033 |
KEGGi | hsa:55033 |
MANE-Selecti | ENST00000222803.10; ENSP00000222803.5; NM_017946.4; NP_060416.1 |
UCSCi | uc003tal.3, human |
Organism-specific databases
CTDi | 55033 |
DisGeNETi | 55033 |
GeneCardsi | FKBP14 |
GeneReviewsi | FKBP14 |
HGNCi | HGNC:18625, FKBP14 |
HPAi | ENSG00000106080, Low tissue specificity |
MalaCardsi | FKBP14 |
MIMi | 614505, gene 614557, phenotype |
neXtProti | NX_Q9NWM8 |
OpenTargetsi | ENSG00000106080 |
Orphaneti | 300179, Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency |
PharmGKBi | PA38608 |
VEuPathDBi | HostDB:ENSG00000106080 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0549, Eukaryota |
GeneTreei | ENSGT00940000157858 |
HOGENOMi | CLU_013615_5_0_1 |
InParanoidi | Q9NWM8 |
OMAi | CYRKSKY |
OrthoDBi | 1507309at2759 |
PhylomeDBi | Q9NWM8 |
TreeFami | TF105296 |
Enzyme and pathway databases
BRENDAi | 5.2.1.8, 2681 |
PathwayCommonsi | Q9NWM8 |
Reactomei | R-HSA-381038, XBP1(S) activates chaperone genes |
SignaLinki | Q9NWM8 |
Miscellaneous databases
BioGRID-ORCSi | 55033, 8 hits in 1047 CRISPR screens |
ChiTaRSi | FKBP14, human |
GenomeRNAii | 55033 |
Pharosi | Q9NWM8, Tbio |
PROi | PR:Q9NWM8 |
RNActi | Q9NWM8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106080, Expressed in tibia and 219 other tissues |
ExpressionAtlasi | Q9NWM8, baseline and differential |
Genevisiblei | Q9NWM8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR001179, PPIase_FKBP_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit PF00254, FKBP_C, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 2 hits PS00014, ER_TARGET, 1 hit PS50059, FKBP_PPIASE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FKB14_HUMAN | |
Accessioni | Q9NWM8Primary (citable) accession number: Q9NWM8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 181 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references