کراتین ۱۴

KRT14
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	3TNU
معین‌کننده‌ها
نام‌های دیگر	KRT14, CK14, EBS3, EBS4, K14, NFJ, keratin 14, EBS1D, EBS1, EBS1B, EBS1A, EBS1C
شناسه‌های بیرونی	OMIM: 148066 MGI: 96688 HomoloGene: 110439 GeneCards: KRT14
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۱ (موش)
پایان	100,098,374 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• structural constituent of cytoskeleton; • GO:0001948، GO:0016582 پیوند پروتئینی; • keratin filament binding; • structural molecule activity;
ترکیبات سلولی	• سیتوپلاسم; • سیتوزول; • keratin filament; • extracellular exosome; • رشته‌های میانی; • intracellular anatomical structure; • هسته یاخته; • cell periphery; • basal part of cell;
فرایند زیستی	• response to ionizing radiation; • hemidesmosome assembly; • hair cycle; • GO:0010260 پیرش; • response to zinc ion; • epithelial cell differentiation; • intermediate filament bundle assembly; • epidermis development; • keratinization; • cornification;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	3861
	16664
	ENSG00000186847
	ENSMUSG00000045545
	P02533
	Q61781
	NM_000526
	NM_001313956، NM_001313957 NM_016958، NM_001313956، NM_001313957
	NP_000517
	NP_001300886، NP_058654 NP_001300885، NP_001300886، NP_058654
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

کراتین ۱۴ (انگلیسی: Keratin 14) عضوی از خانواده کراتین نوع ۱ از پروتئین‌های رشته‌ای میانی است. کراتین ۱۴ اولین توالی کراتین نوع ۱ بود که کشف شد.^[۴] کراتین ۱۴ با نام‌های سیتوکراتین-14 (CK-14) یا کراتین-14 (KRT14) نیز شناخته می‌شود و در انسان توسط ژن «KRT14» کُدگذاری می‌شود.^[۵]^[۶]^[۷]

کراتین ۱۴ معمولاً به صورت هترودایمر در ترکیب با کراتین ۵ نوع ۲ یافت می‌شود و اسکلت سلولی بافت پوششی را تشکیل می‌دهد.

جهش در ژن «KRT14» سبب بروز بیماری پروانه‌ای می شود.^[۸]

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000045545 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Hanukoglu I, Fuchs E (November 1982). "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins". Cell. 31 (1): 243–52. doi:10.1016/0092-8674(82)90424-X. PMID 6186381. S2CID 35796315.
↑ Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (September 1991). "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses". Cell. 66 (6): 1301–11. doi:10.1016/0092-8674(91)90051-Y. PMID 1717157. S2CID 11965913.
↑ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, et al. (July 2006). "New consensus nomenclature for mammalian keratins". The Journal of Cell Biology. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
↑ "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)".
↑ Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, et al. (September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID 32973163. S2CID 221861310.

برای مطالعهٔ بیشتر

Schuilenga-Hut PH, van der Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H (April 2003). "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations". Human Mutation. 21 (4): 447. doi:10.1002/humu.9124. PMID 12655565. S2CID 20859513.
Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB (1991). "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenetics and Cell Genetics. 57 (1): 33–8. doi:10.1159/000133109. PMID 1713141.
Bonifas JM, Rothman AL, Epstein EH (November 1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities". Science. 254 (5035): 1202–5. Bibcode:1991Sci...254.1202B. doi:10.1126/science.1720261. PMID 1720261.
Albers K, Fuchs E (August 1987). "The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines". The Journal of Cell Biology. 105 (2): 791–806. doi:10.1083/jcb.105.2.791. PMC 2114764. PMID 2442174.
Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E (February 1988). "A group of type I keratin genes on human chromosome 17: characterization and expression". Molecular and Cellular Biology. 8 (2): 722–36. doi:10.1128/mcb.8.2.722. PMC 363198. PMID 2451124.
Marchuk D, McCrohon S, Fuchs E (March 1985). "Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene". Proceedings of the National Academy of Sciences of the United States of America. 82 (6): 1609–13. Bibcode:1985PNAS...82.1609M. doi:10.1073/pnas.82.6.1609. PMC 397321. PMID 2580298.
Marchuk D, McCrohon S, Fuchs E (December 1984). "Remarkable conservation of structure among intermediate filament genes". Cell. 39 (3 Pt 2): 491–8. doi:10.1016/0092-8674(84)90456-2. PMID 6210150. S2CID 32897738.
Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, et al. (November 1993). "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function". Nature Genetics. 5 (3): 294–300. doi:10.1038/ng1193-294. PMID 7506097. S2CID 155219.
Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH (November 1993). "A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375". Human Molecular Genetics. 2 (11): 1971–2. doi:10.1093/hmg/2.11.1971. PMID 7506606.
Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E (November 1994). "A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein". Genes & Development. 8 (21): 2574–87. doi:10.1101/gad.8.21.2574. PMID 7525408.
Yamanishi K, Matsuki M, Konishi K, Yasuno H (July 1994). "A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex". Human Molecular Genetics. 3 (7): 1171–2. doi:10.1093/hmg/3.7.1171. PMID 7526926.
Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M (April 1993). "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex". Nature Genetics. 3 (4): 327–32. doi:10.1038/ng0493-327. PMID 7526933. S2CID 20287067.
Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH (October 1995). "Keratin 14 gene mutations in patients with epidermolysis bullosa simplex". The Journal of Investigative Dermatology. 105 (4): 629–32. doi:10.1111/1523-1747.ep12323846. PMID 7561171.
Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, et al. (1993). "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex". Human Mutation. 2 (1): 37–42. doi:10.1002/humu.1380020107. PMID 7682883. S2CID 8054726.
Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A (August 1993). "A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis". The Journal of Investigative Dermatology. 101 (2): 240–3. doi:10.1111/1523-1747.ep12365079. PMID 7688405.
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Paladini RD, Takahashi K, Bravo NS, Coulombe PA (February 1996). "Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16". The Journal of Cell Biology. 132 (3): 381–97. doi:10.1083/jcb.132.3.381. PMC 2120730. PMID 8636216.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000045545 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid6186381-4] Hanukoglu I, Fuchs E (November 1982). "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins". Cell. 31 (1): 243–52. doi:10.1016/0092-8674(82)90424-X. PMID 6186381. S2CID 35796315.

[pmid1717157-5] Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (September 1991). "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses". Cell. 66 (6): 1301–11. doi:10.1016/0092-8674(91)90051-Y. PMID 1717157. S2CID 11965913.

[pmid16831889-6] Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, et al. (July 2006). "New consensus nomenclature for mammalian keratins". The Journal of Cell Biology. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.

[entrez-7] "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)".

[8] Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, et al. (September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID 32973163. S2CID 221861310.

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