DDR1

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Diskoidin domen receptor familija, izoforma 1
Identifikatori
Simboli	DDR1; CAK; CD167; DDR; EDDR1; MCK10; NEP; NTRK4; PTK3; PTK3A; RTK6; TRKE
Vanjski ID	OMIM: 600408 MGI: 99216 HomoloGene: 68212 GeneCards: DDR1 Gene
Ontologija gena Molekularna funkcija • vezivanje nukleotida • aktivnost protein-tirozin kinaze • aktivnost transmembrankog receptora proteinske tirozin kinaze • aktivnost receptora • ATP vezivanje • aktivnost transferaze Celularna komponenta • integralno sa membranom plazme • membrana Biološki proces • fosforilacija proteinske aminokiseline • ćelijska adhezija • transmembranki receptor proteinska tirozin kinaza, signalni put
Pregled RNK izražavanja
podaci
Ortolozi
Vrsta	Čovek	Miš
Entrez	780	12305
Ensembl	ENSG00000137332	ENSMUSG00000003534
UniProt	Q08345	O35407
RefSeq (mRNA)	NM_001954	NM_007584
RefSeq (protein)	NP_001945	NP_031610
Lokacija (UCSC)	Chr c6_COX: 30.99 - 31.01 Mb	Chr 17: 35.29 - 35.31 Mb
PubMed pretraga	[1]	[2]

DDR1, ili CD167a (klaster diferencijacije 167a), je ljudski gen koji je pripadnik broj 1 familije receptora s diskoidinskim domenom.

Receptorske tirozinske kinaze (RTK) igraju ključnu ulogu u komunikaciji ćelija sa njihovim mikro okruženjem. Ti molekuli su uključeni u regulaciju ćelijskog rasta, diferencijacije i metabolizma. Protein kodiran ovim genom je RTK koji je široko izražen u normalnim i transformisanim epitelnim ćelijama, i koji je aktiviran kolagenom. Ovaj protein pripada potfamiliji receptora tirozin kinaza koje sadrže homologni region sa Dictyostelium discoideum proteinom diskoidin I u njihovom ekstracelularnom domenu. Njegova auto-fosforilacija se postiže svim do sada testiranim kolagenima (tip I - VI). In situ studije i Northern-blot analiza su pokazale da je izražavanje ovog protein ograničeno na epitelske ćelije, posebno u bubrezima, plućima, gastrointestinalnom traktu, i mozgu. Dodatno, ovaj protein je značajno preizražen i u nekoliko ljudskih tumora iz dojki, jajnika, jednjaka, pedijatrijskog mozga. Ovaj gen se nalazi na hromozomu 6p21.3 u blizini nekoliko HLA klasa I gena. Alternativno splajsovanje (engl. splicing) ovog gena proizvodi nekoliko transkriptnih varijanti.

Literatura

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