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Q9NWM8

- FKB14_HUMAN

UniProt

Q9NWM8 - FKB14_HUMAN

Protein

Peptidyl-prolyl cis-trans isomerase FKBP14

Gene

FKBP14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    PPIases accelerate the folding of proteins during protein synthesis.

    Catalytic activityi

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi148 – 159121PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi192 – 203122PROSITE-ProRule annotationAdd
    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. activation of signaling protein activity involved in unfolded protein response Source: Reactome
    2. cellular protein metabolic process Source: Reactome
    3. chaperone-mediated protein folding Source: RefGenome
    4. endoplasmic reticulum unfolded protein response Source: Reactome
    5. protein peptidyl-prolyl isomerization Source: RefGenome

    Keywords - Molecular functioni

    Isomerase, Rotamase

    Keywords - Ligandi

    Calcium, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_18273. XBP1(S) activates chaperone genes.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase FKBP14 (EC:5.2.1.8)
    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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:18625. FKBP14.

    Subcellular locationi

    Endoplasmic reticulum lumen 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. endoplasmic reticulum lumen Source: Reactome
    2. endoplasmic reticulum membrane Source: RefGenome

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Ehlers-Danlos syndrome

    Organism-specific databases

    MIMi614557. phenotype.
    Orphaneti300179. Ehlers-Danlos syndrome, kyphoscoliotic and deafness type.
    PharmGKBiPA38608.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 19191 PublicationAdd
    BLAST
    Chaini20 – 211192Peptidyl-prolyl cis-trans isomerase FKBP14PRO_0000025521Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi176 – 1761N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9NWM8.
    PaxDbiQ9NWM8.
    PRIDEiQ9NWM8.

    PTM databases

    PhosphoSiteiQ9NWM8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NWM8.
    BgeeiQ9NWM8.
    CleanExiHS_FKBP14.
    GenevestigatoriQ9NWM8.

    Organism-specific databases

    HPAiHPA013329.
    HPA026829.

    Interactioni

    Protein-protein interaction databases

    BioGridi120362. 5 interactions.
    IntActiQ9NWM8. 3 interactions.
    MINTiMINT-8247492.
    STRINGi9606.ENSP00000222803.

    Structurei

    Secondary structure

    1
    211
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi19 – 213
    Beta strandi28 – 336
    Beta strandi47 – 5610
    Turni57 – 593
    Beta strandi62 – 654
    Helixi66 – 694
    Turni70 – 723
    Beta strandi75 – 784
    Turni79 – 824
    Helixi86 – 916
    Beta strandi100 – 1056
    Helixi107 – 1093
    Turni110 – 1145
    Beta strandi125 – 13511
    Helixi141 – 1477
    Beta strandi152 – 1565
    Helixi157 – 17014
    Helixi177 – 19115
    Beta strandi196 – 2005
    Helixi201 – 2055

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4DIPX-ray1.82A/B/C/D/E/F/G/H/I/J19-138[»]
    4MSPX-ray1.90A/B21-211[»]
    ProteinModelPortaliQ9NWM8.
    SMRiQ9NWM8. Positions 21-209.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini45 – 13591PPIase FKBP-typePROSITE-ProRule annotationAdd
    BLAST
    Domaini135 – 17036EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini179 – 21133EF-hand 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi208 – 2114Prevents secretion from ERPROSITE-ProRule annotation

    Sequence similaritiesi

    Contains 2 EF-hand domains.PROSITE-ProRule annotation
    Contains 1 PPIase FKBP-type domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiCOG0545.
    HOGENOMiHOG000154887.
    HOVERGENiHBG051623.
    InParanoidiQ9NWM8.
    KOiK09577.
    OMAiMMLVHYE.
    OrthoDBiEOG7T1R9S.
    PhylomeDBiQ9NWM8.
    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.
    PfamiPF13499. EF-hand_7. 1 hit.
    PF00254. FKBP_C. 1 hit.
    [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. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9NWM8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRLFLWNAVL TLFVTSLIGA LIPEPEVKIE VLQKPFICHR KTKGGDLMLV    50
    HYEGYLEKDG SLFHSTHKHN NGQPIWFTLG ILEALKGWDQ GLKGMCVGEK 100
    RKLIIPPALG YGKEGKGKIP PESTLIFNID LLEIRNGPRS HESFQEMDLN 150
    DDWKLSKDEV KAYLKKEFEK HGAVVNESHH DALVEDIFDK EDEDKDGFIS 200
    AREFTYKHDE L 211
    Length:211
    Mass (Da):24,172
    Last modified:October 1, 2000 - v1
    Checksum:i858184954FE10029
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358643 mRNA. Translation: AAQ89006.1.
    AK000738 mRNA. Translation: BAA91351.1.
    BC005206 mRNA. Translation: AAH05206.1.
    CCDSiCCDS5423.1.
    RefSeqiNP_060416.1. NM_017946.3.
    UniGeneiHs.390838.

    Genome annotation databases

    EnsembliENST00000222803; ENSP00000222803; ENSG00000106080.
    GeneIDi55033.
    KEGGihsa:55033.
    UCSCiuc003tal.2. human.

    Polymorphism databases

    DMDMi23821568.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGenei Hs.390838.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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 [» ]
    ProteinModelPortali Q9NWM8.
    SMRi Q9NWM8. Positions 21-209.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120362. 5 interactions.
    IntActi Q9NWM8. 3 interactions.
    MINTi MINT-8247492.
    STRINGi 9606.ENSP00000222803.

    Chemistry

    BindingDBi Q9NWM8.
    ChEMBLi CHEMBL2342.

    PTM databases

    PhosphoSitei Q9NWM8.

    Polymorphism databases

    DMDMi 23821568.

    Proteomic databases

    MaxQBi Q9NWM8.
    PaxDbi Q9NWM8.
    PRIDEi Q9NWM8.

    Protocols and materials databases

    DNASUi 55033.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222803 ; ENSP00000222803 ; ENSG00000106080 .
    GeneIDi 55033.
    KEGGi hsa:55033.
    UCSCi uc003tal.2. human.

    Organism-specific databases

    CTDi 55033.
    GeneCardsi GC07M030050.
    HGNCi HGNC:18625. FKBP14.
    HPAi HPA013329.
    HPA026829.
    MIMi 614505. gene.
    614557. phenotype.
    neXtProti NX_Q9NWM8.
    Orphaneti 300179. Ehlers-Danlos syndrome, kyphoscoliotic and deafness type.
    PharmGKBi PA38608.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0545.
    HOGENOMi HOG000154887.
    HOVERGENi HBG051623.
    InParanoidi Q9NWM8.
    KOi K09577.
    OMAi MMLVHYE.
    OrthoDBi EOG7T1R9S.
    PhylomeDBi Q9NWM8.
    TreeFami TF105296.

    Enzyme and pathway databases

    Reactomei REACT_18273. XBP1(S) activates chaperone genes.

    Miscellaneous databases

    GenomeRNAii 55033.
    NextBioi 58455.
    PROi Q9NWM8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NWM8.
    Bgeei Q9NWM8.
    CleanExi HS_FKBP14.
    Genevestigatori Q9NWM8.

    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 PF13499. EF-hand_7. 1 hit.
    PF00254. FKBP_C. 1 hit.
    [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. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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.
      , 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. Cited for: INVOLVEMENT IN EDSKMH, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiFKB14_HUMAN
    AccessioniPrimary (citable) accession number: Q9NWM8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2002
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 128 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

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3