DFNA5

DFNA5
Identifikatori
Aliasi	GSDME
Vanjski ID-jevi	OMIM: 608798 MGI: 1889850 HomoloGene: 3242 GeneCards: GSDME
Lokacija gena (čovjek) Hrom. Hromosom 7 (čovjek) Bend 7p15.3 Početak 24,698,355 bp Kraj 24,757,940 bp
Lokacija gena (miš) Hrom. Hromosom 6 (miš) Bend 6|6 B2.3 Početak 50,165,868 bp Kraj 50,240,842 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • phosphatidylinositol-4,5-bisphosphate binding • cardiolipin binding Ćelijska komponenta • citoplazma • citosol • ćelijska membrana • membrana Biološki proces • inner ear receptor cell differentiation • sluh • positive regulation of intrinsic apoptotic signaling pathway • negative regulation of cell population proliferation • GO:0010703, GO:0010702 programirana ćelijska smrt • Ćelijska smrt • positive regulation of MAPK cascade • necrotic cell death • Piroptoza • cellular response to tumor necrosis factor • cellular response to virus Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	1687	54722
Ensembl	ENSG00000105928	ENSMUSG00000029821
UniProt	O60443	Q9Z2D3
RefSeq (mRNK)	NM_004403 NM_001127453 NM_001127454	NM_018769
RefSeq (bjelančevina)	NP_001120925 NP_001120926 NP_004394 NP_001120926.1	NP_061239
Lokacija (UCSC)	Chr 7: 24.7 – 24.76 Mb	Chr 6: 50.17 – 50.24 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Gasdermin C jest protein koji je kod ljudi kodiran genom GSDMC sa hromosoma 8.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 508 aminokiselina, a molekulska težina 57.692 Da.

• 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
MPSMLERISK		NLVKEIGSKD		LTPVKYLLSA		TKLRQFVILR		KKKDSRSSFW
EQSDYVPVEF		SLNDILEPSS		SVLETVVTGP		FHFSDIMIQK		HKADMGVNVG
IEVSVSGEAS		VDHGCSLEFQ		IVTIPSPNLE		DFQKRKLLDP		EPSFLKECRR
RGDNLYVVTE		AVELINNTVL		YDSSSVNILG		KIALWITYGK		GQGQGESLRV
KKKALTLQKG		MVMAYKRKQL		VIKEKAILIS		DDDEQRTFQD		EYEISEMVGY
CAARSEGLLP		SFHTISPTLF		NASSNDMKLK		PELFLTQQFL		SGHLPKYEQV
HILPVGRIEE		PFWQNFKHLQ		EEVFQKIKTL		AQLSKDVQDV		MFYSILAMLR
DRGALQDLMN		MLELDSSGHL		DGPGGAILKK		LQQDSNHAWF		NPKDPILYLL
EAIMVLSDFQ		HDLLACSMEK		RILLQQQELV		RSILEPNFRY		PWSIPFTLKP
ELLAPLQSEG		LAITYGLLEE		CGLRMELDNP		RSTWDVEAKM		PLSALYGTLS
LLQQLAEA

Dopunska literatura

• Saeki N, Usui T, Aoyagi K, Kim DH, Sato M, Mabuchi T, Yanagihara K, Ogawa K, Sakamoto H, Yoshida T, Sasaki H (2009). "Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium". Genes Chromosomes Cancer. 48 (3): 261–71. doi:10.1002/gcc.20636. PMID 19051310. S2CID 19705164.