SLITRK6
SLIT i NTRK-liki protein 6 je protein koji je kod ljudi kodiran genom SLITRK6.[5][6]
| SLITRK6 | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | SLITRK6 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 609681 MGI: 2443198 HomoloGene: 12986 GeneCards: SLITRK6 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 13: 85.79 – 85.81 Mb | Chr 14: 110.99 – 110.99 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 841 aminokiselina, a molekulska težina 95 110 Da.[7].
- Simboli
C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MKLWIHLFYS | SLLACISLHS | QTPVLSSRGS | CDSLCNCEEK | DGTMLINCEA | ||||
| KGIKMVSEIS | VPPSRPFQLS | LLNNGLTMLH | TNDFSGLTNA | ISIHLGFNNI | ||||
| ADIEIGAFNG | LGLLKQLHIN | HNSLEILKED | TFHGLENLEF | LQADNNFITV | ||||
| IEPSAFSKLN | RLKVLILNDN | AIESLPPNIF | RFVPLTHLDL | RGNQLQTLPY | ||||
| VGFLEHIGRI | LDLQLEDNKW | ACNCDLLQLK | TWLENMPPQS | IIGDVVCNSP | ||||
| PFFKGSILSR | LKKESICPTP | PVYEEHEDPS | GSLHLAATSS | INDSRMSTKT | ||||
| TSILKLPTKA | PGLIPYITKP | STQLPGPYCP | IPCNCKVLSP | SGLLIHCQER | ||||
| NIESLSDLRP | PPQNPRKLIL | AGNIIHSLMK | SDLVEYFTLE | MLHLGNNRIE | ||||
| VLEEGSFMNL | TRLQKLYLNG | NHLTKLSKGM | FLGLHNLEYL | YLEYNAIKEI | ||||
| LPGTFNPMPK | LKVLYLNNNL | LQVLPPHIFS | GVPLTKVNLK | TNQFTHLPVS | ||||
| NILDDLDLLT | QIDLEDNPWD | CSCDLVGLQQ | WIQKLSKNTV | TDDILCTSPG | ||||
| HLDKKELKAL | NSEILCPGLV | NNPSMPTQTS | YLMVTTPATT | TNTADTILRS | ||||
| LTDAVPLSVL | ILGLLIMFIT | IVFCAAGIVV | LVLHRRRRYK | KKQVDEQMRD | ||||
| NSPVHLQYSM | YGHKTTHHTT | ERPSASLYEQ | HMVSPMVHVY | RSPSFGPKHL | ||||
| EEEEERNEKE | GSDAKHLQRS | LLEQENHSPL | TGSNMKYKTT | NQSTEFLSFQ | ||||
| DASSLYRNIL | EKERELQQLG | ITEYLRKNIA | QLQPDMEAHY | PGAHEELKLM | ||||
| ETLMYSRPRK | VLVEQTKNEY | FELKANLHAE | PDYLEVLEQQ | T |
Funkcija
urediČlanovi porodice SLITRK, kao što je SLITRK6, integralni su membranski proteini s dva N-terminalna domena leucinom bogatih ponavljanja (LRR), slična onima kod proteina SLIT s (vidi SLIT1). Većina SLITRK-ova, uključujući SLITRK6, također imaju C-terminalne regije koje imaju homologiju s receptorima za neurotropine (vidi NTRK1). SLITRK se eksprimiraju pretežno u živčanim tkivima i imaju aktivnost moduliranja neurita.[5][6]
Klinički značaj
urediMutacije u SLITRK6 uzrokuju visoku miopiju i gluhoću kod ljudi i miševa.[8]
Kao cilj lijeka
urediOvaj protein je meta konjugatnog antitijela ASG-15ME koji je u fazi 1 kliničkih ispitivanja za urotelijski rak.[9]
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000184564 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045871 - Ensembl, maj 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.
- ^ a b Aruga J, Yokota N, Mikoshiba K (Oct 2003). "Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue". Gene. 315: 87–94. doi:10.1016/S0378-1119(03)00715-7. PMID 14557068.
- ^ a b "Entrez Gene: SLITRK6 SLIT and NTRK-like family, member 6".
- ^ "UniProt, Q9H5Y7". Pristupljeno 5. 8. 2021.
- ^ Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH (2013). "SLITRK6 mutations cause myopia and deafness in humans and mice". J. Clin. Invest. 123 (5): 2094–102. doi:10.1172/JCI65853. PMC 3635725. PMID 23543054.
- ^ Seattle Genetics and Agensys, an Affiliate of Astellas (oktobar 2016). "Interim Analysis of a Phase 1 Dose Escalation Trial of ASG-22CE (ASG-22ME; enfortumab vedotin), an Antibody-Drug Conjugate (ADC) in Patients with Metastatic Urothelial Cancer". Poster Abstract #788P, European Society for Medical Oncology (ESMO) Congress, Copenhagen.
Dopunska literatura
uredi- Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.