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// Workers AI · dad joke modeWhat did FKBP14 say to its friend? "Let's bind together

From Wikipedia, the free encyclopedia

FKBP14
Identifiers
AliasesFKBP14, EDSKMH, FKBP22, IPBP12, FK506 binding protein 14, EDSKSCL2, FKBP prolyl isomerase 14
External IDsOMIM: 614505; MGI: 2387639; GeneCards: FKBP14
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
5.2.1.8↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017946

NM_153573
NM_001363792
NM_001363793

RefSeq (protein)

NP_060416

NP_705801
NP_001350721
NP_001350722

Location (UCSC)Chr 7: 30.01 – 30.03 MbChr 6: 54.55 – 54.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FKBP14 is a gene which codes for a structural protein named FKBP prolyl isomerase 14.[5][6]

Function

[edit]

This protein is believed to aid in the process of procollagen folding and is located in the endoplasmic reticulum that functions to process and transport proteins. Procollagens are collagen precursors located in the extracellular matrix that give tissues elasticity, strength, and support. This gene is involved in patterning the collagen structure. FKBP prolyl isomerase 14 may also be involved in altering other factors in the extracellular matrix.

Clinical significance

[edit]

Mutations of this gene are associated with the kyphoscoliotic type of Ehlers–Danlos syndrome.[7] This condition is characterized by a high range of joint movement, muscle atrophy, curved spine, and delicate cardiovascular vessels. These symptoms are brought about by a loss of the protein which results in a disruption of endoplasmic reticulum activities and extracellular matrix organization. FKBP14 mRNA levels are found higher in ovarian cancer tissues than healthy ovarian tissue and knocked down expression of FKBP14 by lentiviral shRNA leads to an impaired proliferative ability of ovarian cancer cells.[8]

References

[edit]
  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000106080 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038074 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Reference GH. "FKBP14 gene". ghr.nlm.nih.gov. US: United States National Library of Medicine. Retrieved 2019-04-14.
  6. ↑ Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, et al. (February 2012). "Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss". American Journal of Human Genetics. 90 (2): 201–216. doi:10.1016/j.ajhg.2011.12.004. PMC 3276673. PMID 22265013.
  7. ↑ Aldeeri AA, Alazami AM, Hijazi H, Alzahrani F, Alkuraya FS (November 2014). "Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome". Clinical Genetics. 86 (5): 469–472. doi:10.1111/cge.12414. PMID 24773188. S2CID 22680977.
  8. ↑ Lu M, Miao Y, Qi L, Bai M, Zhang J, Feng Y (2016). "RNAi-Mediated Downregulation of FKBP14 Suppresses the Growth of Human Ovarian Cancer Cells". Oncology Research. 23 (6): 267–274. doi:10.3727/096504016X14549667333963. PMC 7838629. PMID 27131312.