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MKL1

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MKL1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

2KVU, 2KW9

Identifikatori
AliasiMRTFA
Vanjski ID-jeviOMIM: 606078 MGI: 2384495 HomoloGene: 32487 GeneCards: MRTFA
Lokacija gena (čovjek)
Hromosom 22 (čovjek)
Hrom.Hromosom 22 (čovjek)[1]
Hromosom 22 (čovjek)
Genomska lokacija za MKL1
Genomska lokacija za MKL1
Bend22q13.1-q13.2Početak40,410,281 bp[1]
Kraj40,636,719 bp[1]
Lokacija gena (miš)
Hromosom 15 (miš)
Hrom.Hromosom 15 (miš)[2]
Hromosom 15 (miš)
Genomska lokacija za MKL1
Genomska lokacija za MKL1
Bend15|15 E1Početak80,896,482 bp[2]
Kraj81,074,958 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija GO:0001105 transcription coactivator activity
actin monomer binding
leucine zipper domain binding
GO:0001948, GO:0016582 vezivanje za proteine
actin binding
Ćelijska komponenta citoplazma
nukleoplazma
jedro
citosol
Biološki proces GO:0009373 regulation of transcription, DNA-templated
smooth muscle cell differentiation
transcription, DNA-templated
GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
transcription by RNA polymerase II
actin cytoskeleton organization
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001282660
NM_001282661
NM_001282662
NM_020831
NM_001318139

NM_001082536
NM_153049

RefSeq (bjelančevina)

NP_001269589
NP_001269590
NP_001269591
NP_001305068
NP_065882

NP_001076005
NP_694629

Lokacija (UCSC)Chr 22: 40.41 – 40.64 MbChr 15: 80.9 – 81.07 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

MKL megakarioblastne lukemije 1 (znan i kao MRTFA/miokardski transkripcijski faktor A) jest protein koji je kod ljudi kodiran genom MKL1 sa hromosoma 22.[5][6][7][8]

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 931 aminokiselina, a molekulska težina 98.919 Da.[8]

1020304050
MPPLKSPAAFHEQRRSLERARTEDYLKRKIRSRPERSELVRMHILEETSA
EPSLQAKQLKLKRARLADDLNEKIAQRPGPMELVEKNILPVESSLKEAII
VGQVNYPKVADSSSFDEDSSDALSPEQPASHESQGSVPSPLEARVSEPLL
SATSASPTQVVSQLPMGRDSREMLFLAEQPPLPPPPLLPPSLTNGTTIPT
AKSTPTLIKQSQPKSASEKSQRSKKAKELKPKVKKLKYHQYIPPDQKQDR
GAPPMDSSYAKILQQQQLFLQLQILNQQQQQHHNYQAILPAPPKSAGEAL
GSSGTPPVRSLSTTNSSSSSGAPGPCGLARQNSTSLTGKPGALPANLDDM
KVAELKQELKLRSLPVSGTKTELIERLRAYQDQISPVPGAPKAPAATSIL
HKAGEVVVAFPAARLSTGPALVAAGLAPAEVVVATVASSGVVKFGSTGST
PPVSPTPSERSLLSTGDENSTPGDTFGEMVTSPLTQLTLQASPLQILVKE
EGPRAGSCCLSPGGRAELEGRDKDQMLQEKDKQIEALTRMLRQKQQLVER
LKLQLEQEKRAQQPAPAPAPLGTPVKQENSFSSCQLSQQPLGPAHPFNPS
LAAPATNHIDPCAVAPGPPSVVVKQEALQPEPEPVPAPQLLLGPQGPSLI
KGVAPPTLITDSTGTHLVLTVTNKNADSPGLSSGSPQQPSSQPGSPAPAP
SAQMDLEHPLQPLFGTPTSLLKKEPPGYEEAMSQQPKQQENGSSSQQMDD
LFDILIQSGEISADFKEPPSLPGKEKPSPKTVCGSPLAAQPSPSAELPQA
APPPPGSPSLPGRLEDFLESSTGLPLLTSGHDGPEPLSLIDDLHSQMLSS
TAILDHPPSPMDTSELHFVPEPSSTMGLDLADGHLDSMDWLELSSGGPVL
SLAPLSTTAPSLFSTDFLDGHDLQLHWDSCL

Funkcija

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Protein kodiran ovim genom reguliran je aktinskim citoskeletom i premješta se između citoplazme i jedra, kao posljedica dinamike aktina.[9] U jedru koaktivira transkripcijski faktor faktor serumskog odgovora,[10] ključni regulator diferencijacije ćelija glatkih mišića, u interakciji posredovanoj njegovim osnovnim domenom. Usko je povezan sa MKL2 i miokardinom, s kojima dijeli pet ključnih konzerviranih strukturnih domena.[11]

Klinički značaj

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Ovaj gen uključen je u specifične translokacije, koje stvaraju fuziju ovog gena i RNK-vezujućeg proteina, produkta protein-15 gena. Ova translokacija povezana je sa akutnom megakariocitnom leukemijom.[8] Također funkcioniše u procesu normalnog sazrevanja megakariocita.[12]

Također pogledajte

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Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196588 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042292 - 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. ^ Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK (Jul 2001). "Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia". Nature Genetics. 28 (3): 220–1. doi:10.1038/90054. PMID 11431691. S2CID 36236342.
  6. ^ Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H (Aug 2002). "Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death". The Journal of Biological Chemistry. 277 (32): 28853–60. doi:10.1074/jbc.M203190200. PMID 12019265.
  7. ^ Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS (Apr 2004). "Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells". The Journal of Biological Chemistry. 279 (17): 17578–86. doi:10.1074/jbc.M400961200. PMID 14970199.
  8. ^ a b c "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1".
  9. ^ Vartiainen MK, Guettler S, Larijani B, Treisman R (Jun 2007). "Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL". Science. 316 (5832): 1749–52. Bibcode:2007Sci...316.1749V. doi:10.1126/science.1141084. PMID 17588931. S2CID 44910416.
  10. ^ Miralles F, Posern G, Zaromytidou AI, Treisman R (maj 2003). "Actin dynamics control SRF activity by regulation of its coactivator MAL". Cell. 113 (3): 329–42. doi:10.1016/S0092-8674(03)00278-2. PMID 12732141.
  11. ^ Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, Richardson JA, Nordheim A, Olson EN (Nov 2002). "Potentiation of serum response factor activity by a family of myocardin-related transcription factors". Proceedings of the National Academy of Sciences of the United States of America. 99 (23): 14855–60. Bibcode:2002PNAS...9914855W. doi:10.1073/pnas.222561499. PMC 137508. PMID 12397177.
  12. ^ Cheng EC, Luo Q, Bruscia EM, Renda MJ, Troy JA, Massaro SA, et al. (mart 2009). "Role for MKL1 in megakaryocytic maturation". Blood. 113 (12): 2826–34. doi:10.1182/blood-2008-09-180596. PMC 2661865. PMID 19136660.

Dopunska literatura

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