ELMOD2

ELMOD2
Identifikatori
Aliasi	ELMOD2
Vanjski ID-jevi	OMIM: 610196 MGI: 2445165 HomoloGene: 16662 GeneCards: ELMOD2
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	140,553,770 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	84,059,115 bp
Ontologija gena
Molekularna funkcija	• GO:0005097, GO:0005099, GO:0005100 GTPase activator activity;
Ćelijska komponenta	• membrana;
Biološki proces	• defense response to virus; • regulation of defense response to virus; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity;
	Izvori:Amigo / QuickGO
Ortolozi
	255520
	244548
	ENSG00000179387
	ENSMUSG00000035151
	Q8IZ81
	Q8BGF6
	NM_153702
	NM_001170691; NM_178736
	NP_714913
	NP_001164162; NP_848851
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 2 sa domenom ELMO jest protein koji je kod ljudi kodiran genom ELMOD2 sa hromosoma 4.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 293 aminokiseline, а molekulska težina 34.961 Da.^[6].

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
MFISLWEFFY	GHFFRFWMKW	LLRQMTGKCE	LQRIFDTYVG	AQRTHRIENS
LTYSKNKVLQ	KATHVVQSEV	DKYVDDIMKE	KNINPEKDAS	FKICMKMCLL
QITGYKQLYL	DVESVRKRPY	DSDNLQHEEL	LMKLWNLLMP	TKKLNARISK
QWAEIGFQGD	DPKTDFRGMG	ILGLINLVYF	SENYTSEAHQ	ILSRSNHPKL
GYSYAIVGIN	LTEMAYSLLK	SEALKFHLYN	LVPGIPTMEH	FHQFYCYLVY
EFDKFWFEEE	PESIMYFNLY	REKFHEKIKG	LLLDCNVALT	LKV

Funkcija

Ovaj gen kodira jedan od šest proteina koji sadrže domene gutanja i pokretljivosti (ELMO). Smatra se da ima ulogu u antivirusnim odgovorima. Mutacije u ovom genu mogu biti uključene u uzrok porodične idiopatske plućne fibroze.

Reference

1 2 3 GRCh38: Ensembl release 89: ENSG00000179387 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035151 - 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.
↑ "Entrez Gene: ELMO domain containing 2". Pristupljeno 29. 8. 2016.
↑ "UniProt, Q8IZ81" (jezik: engleski). Pristupljeno 25. 10. 2021.

Dopunska literatura

Hodgson U, Pulkkinen V, Dixon M, Peyrard-Janvid M, Rehn M, Lahermo P, Ollikainen V, Salmenkivi K, Kinnula V, Kere J, Tukiainen P, Laitinen T (2006). "ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis". Am. J. Hum. Genet. 79 (1): 149–54. doi:10.1086/504639. PMC 1474126. PMID 16773575.

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

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000179387 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035151 - 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.

[entrez-5] "Entrez Gene: ELMO domain containing 2". Pristupljeno 29. 8. 2016.

[UniProt-6] "UniProt, Q8IZ81" (jezik: engleski). Pristupljeno 25. 10. 2021.

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