ECT2L

ECT2L
Identifikatori
AliasiECT2L
Vanjski ID-jeviMGI: 3641723 HomoloGene: 46005 GeneCards: ECT2L
Lokacija gena (čovjek)
Hromosom 6 (čovjek)
Hrom.Hromosom 6 (čovjek)[1]
Hromosom 6 (čovjek)
Genomska lokacija za ECT2L
Genomska lokacija za ECT2L
Bend6q24.1Početak138,795,911 bp[1]
Kraj138,904,070 bp[1]
Lokacija gena (miš)
Hromosom 10 (miš)
Hrom.Hromosom 10 (miš)[2]
Hromosom 10 (miš)
Genomska lokacija za ECT2L
Genomska lokacija za ECT2L
Bend10|10 A3Početak18,004,651 bp[2]
Kraj18,086,638 bp[2]
Ortolozi
VrsteČovjekMiš
Entrez

345930

100045792

Ensembl

ENSG00000203734

ENSMUSG00000071392

UniProt

Q008S8

n/a

RefSeq (mRNK)

NM_001077706
NM_001195037

NM_001195036
NM_001370991

RefSeq (bjelančevina)

NP_001071174
NP_001181966

n/a

Lokacija (UCSC)Chr 6: 138.8 – 138.9 MbChr 10: 18 – 18.09 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Onkogenolika transformirajuća sekvenca 2 epitelnih ćelija jest protein koji je kod ljudi kodiran genom ECT2L.[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 904 aminokiseline, а molekulska težina 104.880 Da.[6]

1020304050
MESFHTRFSAWTPFSNKSLNRQLFQERVALISHWFDLWTNKQRQEFLFAI
FLRCTKSQLRFVQDWFSERMQVAKVDFSTVLPRFISLYIFSFLSPKDLCA
AAQVSWPWKFLTEQDCLWMPKCVKFGWFLPYTPTDNEYGAWKRHYIACVS
HLDWLTPREAAATYGTLNEPKTEDEELLERQREKCLRKRIWEKIALRKKE
LFKVRPPWVSGTCCSSVLKPRCQPRLSQTVRERVGLHEALEKQLVLTSLE
TLPKRSNISGSHSYPLLSKKNWHGVHKNDDRSSYALRPHFMLISSRIPAY
EMVMESVKAGVVSVVYEHSVTLESLLYLIEKALDGQKAQSIGIFSDGDSR
EINLLQGYKIGVKNLLRPEVRDFWEKLGSYVATEEEGGHVDFFVPLGASE
AGIEVLSQLSQLTGTFFTAPTGIATGSYQHILSDWLGSQWGKAPSSIYFC
ESKLQTWSSFTDFLEETLKTVRKQLYPFFKELQKSISGRMIGQFMFDTMG
MTNILNNQDTAQALADGLMELSKEDSERNVVEDNSWDTKSRLSKNDLNFE
ALINLERILQKDSAEKRARVVRELLQSERKYVQILEIVRDVYVAPLKAAL
SSNRAILSAANIQIIFCDILQILSLNRQFLDNLRDRLQEWGPAHCVGEIV
TKFGSQLNTYTNFFNNYPVILKTIEKCREMIPAFRTFLKRHDKTIVTKML
SLPELLLYPSRRFEEYLNLLYAVRLHTPAEHVDRGDLTTAIDQIKKYKGY
IDQMKQNITMKDHLSDIQRIIWGCPTLSEVNRYLIRVQDVAQLHCCDEEI
SFSLRLYEHIHDLSLFLFNDALLVSSRGTSHTPFERTSKTTYQFIASVAL
HRLLIENIPDSKYVKNAFILQGPKYKWICATEIEDDKFLWLSVLRNAIKS
SMEK

Klinička važnost

Rekurentne mutacije ovog gena povezane su sa slučajevima akutne limfoblastne leukemije.[7]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000203734 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000071392 - 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. ^ "Entrez Gene: Epithelial cell transforming sequence 2 oncogene-like". Pristupljeno 19. 2. 2012.
  6. ^ "UniProt, Q008S8" (jezik: engleski). Pristupljeno 7. 10. 2021.
  7. ^ Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen X, Wang J, Rusch M, Lu C, Chen SC, Wei L, Collins-Underwood JR, Ma J, Roberts KG, Pounds SB, Ulyanov A, Becksfort J, Gupta P, Huether R, Kriwacki RW, Parker M, McGoldrick DJ, Zhao D, Alford D, Espy S, Bobba KC, Song G, Pei D, Cheng C, Roberts S, Barbato MI, Campana D, Coustan-Smith E, Shurtleff SA, Raimondi SC, Kleppe M, Cools J, Shimano KA, Hermiston ML, Doulatov S, Eppert K, Laurenti E, Notta F, Dick JE, Basso G, Hunger SP, Loh ML, Devidas M, Wood B, Winter S, Dunsmore KP, Fulton RS, Fulton LL, Hong X, Harris CC, Dooling DJ, Ochoa K, Johnson KJ, Obenauer JC, Evans WE, Pui CH, Naeve CW, Ley TJ, Mardis ER, Wilson RK, Downing JR, Mullighan CG (2012). "The genetic basis of early T-cell precursor acute lymphoblastic leukaemia". Nature. 481 (7380): 157–163. Bibcode:2012Natur.481..157Z. doi:10.1038/nature10725. PMC 3267575. PMID 22237106.

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