DUX4

DUX4
Identifikatori
AliasiDUX4
Vanjski ID-jeviOMIM: 606009 GeneCards: DUX4
Lokacija gena (čovjek)
Hromosom 4 (čovjek)
Hrom.Hromosom 4 (čovjek)[1]
Hromosom 4 (čovjek)
Genomska lokacija za DUX4
Genomska lokacija za DUX4
Bend4q35.2Početak190,173,774 bp[1]
Kraj190,185,942 bp[1]
Ontologija gena
Molekularna funkcija• vezivanje sa DNK
• GO:0000975 transcription cis-regulatory region binding
• GO:0001948, GO:0016582 vezivanje za proteine
• GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding
• GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific
• sequence-specific double-stranded DNA binding
Ćelijska komponenta• Jedarna membrana
• jedro
• nukleoplazma
• Jedarce
• citosol
• Golđijev aparat
Biološki proces• negative regulation of G0 to G1 transition
• GO:0009373 regulation of transcription, DNA-templated
• transcription, DNA-templated
• negative regulation of cell population proliferation
• GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
• GO:0097285 apoptoza
• transcription by RNA polymerase II
• multicellular organism development
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez

100288687

n/a

Ensembl

ENSG00000260596
ENSG00000283949

n/a

UniProt

Q9UBX2

n/a

RefSeq (mRNK)

NM_001205218
NM_001278056
NM_001293798
NM_001306068
NM_001363820

n/a

RefSeq (bjelančevina)

NP_001280727
NP_001292997
NP_001350749

n/a

Lokacija (UCSC)Chr 4: 190.17 – 190.19 Mbn/a
PubMed pretraga[2]n/a
Wikipodaci
Pogledaj/uredi – čovjek

Dvostruki homeoboks, 4 poznat i kao DUX4 je protein koji je kod ljudi kodiran genom DUX4.[3]

Gen

Ovaj gen se nalazi unutar niza ponavljanja D4Z4 u subtelomernom području hromosom 4q35. D4Z4 ponavljanje je polimorfne dužine; sličan niz ponavljanja D4Z4 identificiran je na hromosomu 10. Svaka jedinica ponavljanja D4Z4 ima otvoreni okvir čitanja (nazvan DUX4) koji sadrži dvije homeoboksne jedinice; niz ponavljanja i ORF su očuvani kod ostalih sisara. Nije bilo dokaza za transkripciju iz standardnih cDNK biblioteka, ali RTPCR i in vitro eksperimenti ekspresije pokazuju da je ORF transkribiran.[4]

Funkcija

Izvješteno je da kodirani protein djeluje kao transkripcijski aktivator uparenog transkripcijskog faktora 1 homeodomena (PITX1).

Klinički značaj

DUX se obično ispoljava u sjemenicima i brazdanju – embrionske faze.[5]

Neprikladna ekspresija DUX4 u mišićnim ćelijama uzrok je facioscapulohumerusne mišićne distrofije.[6][7]

Prekomjerno ispoljavanje DUX4 uslijed translokacija može uzrokovati B ćelijsku leukemiju.[5]

Također pogledajte

Reference

  1. ^ a b c ENSG00000283949 GRCh38: Ensembl release 89: ENSG00000260596, ENSG00000283949 - Ensembl, maj 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, et al. (august 1999). "Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element". Gene. 236 (1): 25–32. doi:10.1016/S0378-1119(99)00267-X. PMID 10433963.
  4. ^ "Entrez Gene: DUX4 Double homeobox, 4".
  5. ^ a b Lee JK, Bosnakovski D, Toso EA, Dinh T, Banerjee S, Bohl TE, et al. (decembar 2018). "Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA". Cell Reports. 25 (11): 2955–2962.e3. doi:10.1016/j.celrep.2018.11.060. PMC 6463520. PMID 30540931.
  6. ^ Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, et al. (septembar 2010). "A unifying genetic model for facioscapulohumeral muscular dystrophy". Science. 329 (5999): 1650–3. Bibcode:2010Sci...329.1650L. doi:10.1126/science.1189044. PMC 4677822. PMID 20724583.
  7. ^ Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, et al. (oktobar 2012). "Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis". Human Molecular Genetics. 21 (20): 4419–30. doi:10.1093/hmg/dds284. PMC 3459465. PMID 22798623.

Vanjski linkovi

Šablon:NLM sadržaj

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