SOX10

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SOX10
Identifikatori
AliasiSOX10
Vanjski ID-jeviOMIM: 602229 MGI: 98358 HomoloGene: 5055 GeneCards: SOX10
Lokacija gena (čovjek)
Hromosom 22 (čovjek)
Hrom.Hromosom 22 (čovjek)[1]
Hromosom 22 (čovjek)
Genomska lokacija za SOX10
Genomska lokacija za SOX10
Bend22q13.1Početak37,970,686 bp[1]
Kraj37,987,422 bp[1]
Lokacija gena (miš)
Hromosom 15 (miš)
Hrom.Hromosom 15 (miš)[2]
Hromosom 15 (miš)
Genomska lokacija za SOX10
Genomska lokacija za SOX10
Bend15 E1|15 37.7 cMPočetak79,039,108 bp[2]
Kraj79,049,440 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija GO:0001105 transcription coactivator activity
transcription factor binding
chromatin binding
GO:0001948, GO:0016582 protein binding
identical protein binding
promoter-specific chromatin binding
DNA binding
GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity
GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
Ćelijska komponenta citoplazma
Nukleoplazma
Jedro
Hromatin
mitohondrija
mitochondrial outer membrane
membrana
extrinsic component of mitochondrial outer membrane
Biološki proces GO:0009373 regulation of transcription, DNA-templated
GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II
anatomical structure morphogenesis
transcription, DNA-templated
stem cell differentiation
GO:0045996 negative regulation of transcription, DNA-templated
transcription elongation from RNA polymerase II promoter
negative regulation of Schwann cell proliferation
GO:1901313 positive regulation of gene expression
positive regulation of myelination
cellular response to progesterone stimulus
GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated
oligodendrocyte development
central nervous system myelination
oligodendrocyte differentiation
in utero embryonic development
neural crest cell migration
morphogenesis of an epithelium
positive regulation of neuroblast proliferation
central nervous system development
peripheral nervous system development
positive regulation of gliogenesis
Ćelijska diferencijacija
melanocyte differentiation
lacrimal gland development
negative regulation of apoptotic process
GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
cell maturation
enteric nervous system development
digestive tract morphogenesis
developmental growth
morphogenesis of a branching epithelium
negative regulation of canonical Wnt signaling pathway
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_006941

NM_011437

RefSeq (bjelančevina)

NP_008872

NP_035567

Lokacija (UCSC)Chr 22: 37.97 – 37.99 MbChr 15: 79.04 – 79.05 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Transkripcijski faktor SOX-10 jest protein koji je kod ljudi kodiran genom SOX10 sa hromosoma 22.[5][6][7][8]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 466 aminokiselina, a molekulska težina 49.911 Da.[8]

1020304050
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGE
LGKVKKEQQDGEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKS
KPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDK
RPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGT
AAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQ
SGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQY
LPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGV
DAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQF
DYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSH
SPTHWEQPVYTTLSRP

Funkcija[uredi | uredi izvor]

Ovaj gen kodira člana porodice SOX (srodne SRY-u HMG-kutije) porodice faktora transkripcije uključenih u regulaciju i razvoja embriona i određivanje ćelijske sudbine. Kodirani protein djeluje kao transkripcijski aktivator nakon formiranja proteinskog kompleksa s drugim proteinima. Ovaj protein djeluje kao nukleocitoplazmatski šatl-protein i važan je za razvoj nervnog grebena i perifernog nervnog sistema.[8]

U melanocitnim ćelijama, postoje dokazi da ekspresija gena SOX10 može biti regulirana transkripcijskim faktorom povezanim sa mikroftalmijom (MITF).[9]

Mutacije[uredi | uredi izvor]

Mutacije ovog gena povezane su sa Waardenburg-Shahovim sindromom[8] i uveinim melanomom.[10]

Imunobojenje[uredi | uredi izvor]

SOX10 se koristi kao imunohistohemijski marker, jer je pozitivan na:[11]

  • Melanom, iako dezmoplazik+jski melanomi mogu biti samo fokusno pozitivni.
  • Nevus

Interakcije[uredi | uredi izvor]

Interakcija između SOX10 i PAX3 proučavana je najbolje kod pacijenata sa Waardenburgovim sindromom, autosomno dominantnim poremećajem koji je podijeljen u četiri različita tipa, na osnovu mutacije u dodatnim genima. Smatra se da su interakcije SOX10 i PAX3 regulatori drugih gena uključenih u simptome Waardenburgovog sindroma, posebno MITF, koji utiče na razvoj melanocita, kao i formiranje nervnog grebena. Ekspresija MITF može se transaktivirati pomoću SOX10 i PAX3, da bi imao aditivni efekt.[12][13] Dva gena imaju međusomno bliska vezujuća mjesta na uzvodnom pojačivaču gena c-RET.[14] Također se smatra da SOX10 cilja na dopahrom-tautomerazu preko sinergijske interakcije sa MITF-om, što onda rezultira drugim promjenama melanocita.[15]

SOX10 može uticati na stvaranje transkripcije mijelinskih proteina putem njegove interakcije sa proteinima kao što su OLIG1 i EGR2,[16][17] što je važno za funkcionalnost neurona. Identificirani su i ostali kofaktori, kao što su SP1, OCT6, NMI, FOXD3 i SOX2.[18]

Interakcija između SOX10 i NMI javljaju se koeksprimirano u glijinim ćelijamama, gliomima i kičmenoj moždini i pokazalo se da modulira transkripcijsku aktivnost SOX10.[19]

Također pogledajte[uredi | uredi izvor]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100146 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033006 - Ensembl, maj 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. ^ Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (Feb 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease". Nature Genetics. 18 (2): 171–3. doi:10.1038/ng0298-171. PMID 9462749. S2CID 2327032.
  6. ^ Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M (Sep 1999). "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies". Human Molecular Genetics. 8 (9): 1785–9. doi:10.1093/hmg/8.9.1785. PMID 10441344.
  7. ^ Huber WE, Price ER, Widlund HR, Du J, Davis IJ, Wegner M, Fisher DE (Nov 2003). "A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes". The Journal of Biological Chemistry. 278 (46): 45224–30. doi:10.1074/jbc.M309036200. PMID 12944398.
  8. ^ a b c d "Entrez Gene: SOX10 SRY (sex determining region Y)-box 10".
  9. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  10. ^ Das D, Kaur I, Ali MJ, Biswas NK, Das S, Kumar S, Honavar SG, Maitra A, Chakrabarti S, Majumder PP (Jul 2014). "Exome sequencing reveals the likely involvement of SOX10 in uveal melanoma". Optometry and Vision Science. 91 (7): e185–92. doi:10.1097/OPX.0000000000000309. PMID 24927141. S2CID 24239911.
  11. ^ Nat Pernick. "Stains - SOX10". Pathology Outlines. Topic Completed: 1 February 2014. Revised: 20 September 2019
  12. ^ Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ (July 2000). "Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3". Hum. Genet. 107 (1): 1–6. doi:10.1007/s004390000328. PMID 10982026. S2CID 24931810.
  13. ^ Bondurand N, Pingault V, Goerich DE, Lemort N, Le Caignec C, Wegner M, Goossens M (August 2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. 9 (13): 1907–17. doi:10.1093/hmg/9.13.1907. PMID 10942418.
  14. ^ Lang D, Epstein JA (April 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. 12 (8): 937–45. doi:10.1093/hmg/ddg107. PMID 12668617.
  15. ^ Ludwig A, Rehberg S, Wegner, M (January 2004). "Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors". FEBS Letters. 556 (1–3): 236–44. doi:10.1016/s0014-5793(03)01446-7. PMID 14706856. S2CID 8245142.
  16. ^ Li H, Lu Y, Smith HK, Richardson W (December 2007). "Olig1 and Sox10 Interact Synergistically to Drive Myelin Basic Protein Transcription in Oligodendrocytes". The Journal of Neuroscience. 27 (52): 14375–82. doi:10.1523/jneurosci.4456-07.2007. PMC 6329447. PMID 18160645.
  17. ^ LeBlanc S, Ward R, Svaren, J (May 2007). "Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10". Mol. Cell. Biol. 27 (9): 3521–29. doi:10.1128/mcb.01689-06. PMC 1899967. PMID 17325040.
  18. ^ Bondurand N, Sham MH (October 2013). "The role of SOX10 during enteric nervous system development". Dev. Biol. 382 (1): 330–43. doi:10.1016/j.ydbio.2013.04.024. PMID 23644063.
  19. ^ Schlierf B, Lang S, Kosian T, Werner T, Wegner M (November 2011). "The high-mobility group transcription factor Sox10 interacts with the N-myc-interacting protein Nmi". J. Mol. Biol. 353 (5): 1033–42. doi:10.1016/j.jmb.2005.09.013. PMID 16214168.

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.