ELMOD2
| ELMOD2 | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | ELMOD2 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 610196 MGI: 2445165 HomoloGene: 16662 GeneCards: ELMOD2 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 4: 140.52 – 140.55 Mb | Chr 8: 84.04 – 84.06 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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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].
| 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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000179387 - Ensembl, maj 2017
- ^ a b c 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.
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Index:
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