SLITRK6

SLITRK6
Identifikatori
Aliasi	SLITRK6
Vanjski ID-jevi	OMIM: 609681 MGI: 2443198 HomoloGene: 12986 GeneCards: SLITRK6
Lokacija gena (čovjek) Hrom. Hromosom 13 (čovjek)[1] Bend 13q31.1 Početak 85,792,790 bp[1] Kraj 85,806,683 bp[1]
Lokacija gena (miš) Hrom. Hromosom 14 (miš)[2] Bend 14|14 E3 Početak 110,986,012 bp[2] Kraj 110,992,581 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ortolozi
Vrste	Čovjek	Miš
Entrez	84189	239250
Ensembl	ENSG00000184564	ENSMUSG00000045871
UniProt	Q9H5Y7	Q8C110
RefSeq (mRNK)	NM_032229	NM_175499
RefSeq (bjelančevina)	NP_115605	NP_780708
Lokacija (UCSC)	Chr 13: 85.79 – 85.81 Mb	Chr 14: 110.99 – 110.99 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

SLIT i NTRK-liki protein 6 je protein koji je kod ljudi kodiran genom SLITRK6.^[5][6]

Aminokiselinska sekvenca

Dužina 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

Članovi 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

Mutacije u SLITRK6 uzrokuju visoku miopiju i gluhoću kod ljudi i miševa.^[8]

Kao cilj lijeka

Ovaj protein je meta konjugatnog antitijela ASG-15ME koji je u fazi 1 kliničkih ispitivanja za urotelijski rak.^[9]

Reference

1. GRCh38: Ensembl release 89: ENSG00000184564 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000045871 - 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. 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.
6. "Entrez Gene: SLITRK6 SLIT and NTRK-like family, member 6".
7. "UniProt, Q9H5Y7". Pristupljeno 5. 8. 2021.
8. 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.
9. 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

• 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.