ZMYM2

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ZMYM2
Identifikatori
AliasiZMYM2
Vanjski ID-jeviOMIM: 602221 MGI: 1923257 HomoloGene: 12631 GeneCards: ZMYM2
Lokacija gena (čovjek)
Hromosom 13 (čovjek)
Hrom.Hromosom 13 (čovjek)[1]
Hromosom 13 (čovjek)
Genomska lokacija za ZMYM2
Genomska lokacija za ZMYM2
Bend13q12.11Početak19,958,677 bp[1]
Kraj20,091,829 bp[1]
Lokacija gena (miš)
Hromosom 14 (miš)
Hrom.Hromosom 14 (miš)[2]
Hromosom 14 (miš)
Genomska lokacija za ZMYM2
Genomska lokacija za ZMYM2
Bend14|14 C3Početak57,124,110 bp[2]
Kraj57,200,158 bp[2]
Obrazac RNK ekspresije
PBB GE ZMYM2 202778 s at fs.png

PBB GE ZMYM2 210281 s at fs.png

PBB GE ZMYM2 210282 at fs.png
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija zinc ion binding
metal ion binding
ubiquitin conjugating enzyme binding
GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific
DNA binding
protein tyrosine kinase activity
GO:0001948, GO:0016582 protein binding
Ćelijska komponenta citosol
Jedro
PML body
citoplazma
Nukleoplazma
Biološki proces GO:0009373 regulation of transcription, DNA-templated
transcription, DNA-templated
cytoskeleton organization
regulation of cell morphogenesis
multicellular organism development
peptidyl-tyrosine phosphorylation
GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II
GO:0022610 biološki proces
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001190964
NM_001190965
NM_003453
NM_197968
NM_001353157

NM_001353159
NM_001353161
NM_001353162
NM_001353163
NM_001353164
NM_001353165

NM_029498
NM_177627
NM_001360643

RefSeq (bjelančevina)
NP_001177893
NP_001177894
NP_003444
NP_932072
NP_001340086

NP_001340088
NP_001340090
NP_001340091
NP_001340092
NP_001340093
NP_001340094

NP_083774
NP_001347572
NP_808295

Lokacija (UCSC)Chr 13: 19.96 – 20.09 MbChr 14: 57.12 – 57.2 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

MYM-tipski protein 2 cinkovog prsta je protein koji je kod ljudi koriran genom ZMYM2, sa hromosoma 13, 13q12.11, genomske koordinate (GRCh38): 13:19,957.422 – 20,089.114 bp.[5][6][7]

ZMYM2 sadrži domen DUF3504, srodan elementu tirozin-rekombinaza (YR) kriptonskih DNK transpozona prisutnih u nižim organizmima. Domen DUF3504 izveden je iz YR elementa kriptona, ali mu nedostaje potpuna katalitska tetrada bitna za aktivnost YR. Proteini koji sadrže domen DUF3504 funkcioniraju kao aktivatori transkripcije ili represori (Kojima i Jurka, 2011).[8]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 1.377 aminokiselina, a molekulska težina 154.911 Da.[9]

1020304050
MDTSSVGGLELTDQTPVLLGSTAMATSLTNVGNSFSGPANPLVSRSNKFQ
NSSVEDDDDVVFIEPVQPPPPSVPVVADQRTITFTSSKNEELQGNDSKIT
PSSKELASQKGSVSETIVIDDEEDMETNQGQEKNSSNFIERRPPETKNRT
NDVDFSTSSFSRSKVNAGMGNSGITTEPDSEIQIANVTTLETGVSSVNDG
QLENTDGRDMNLMITHVTSLQNTNLGDVSNGLQSSNFGVNIQTYTPSLTS
QTKTGVGPFNPGRMNVAGDVFQNGESATHHNPDSWISQSASFPRNQKQPG
VDSLSPVASLPKQIFQPSVQQQPTKPVKVTCANCKKPLQKGQTAYQRKGS
AHLFCSTTCLSSFSHKPAPKKLCVMCKKDITTMKGTIVAQVDSSESFQEF
CSTSCLSLYEDKQNPTKGALNKSRCTICGKLTEIRHEVSFKNMTHKLCSD
HCFNRYRMANGLIMNCCEQCGEYLPSKGAGNNVLVIDGQQKRFCCQSCVS
EYKQVGSHPSFLKEVRDHMQDSFLMQPEKYGKLTTCTGCRTQCRFFDMTQ
CIGPNGYMEPYCSTACMNSHKTKYAKSQSLGIICHFCKRNSLPQYQATMP
DGKLYNFCNSSCVAKFQALSMQSSPNGQFVAPSDIQLKCNYCKNSFCSKP
EILEWENKVHQFCSKTCSDDYKKLHCIVTYCEYCQEEKTLHETVNFSGVK
RPFCSEGCKLLYKQDFARRLGLRCVTCNYCSQLCKKGATKELDGVVRDFC
SEDCCKKFQDWYYKAARCDCCKSQGTLKERVQWRGEMKHFCDQHCLLRFY
CQQNEPNMTTQKGPENLHYDQGCQTSRTKMTGSAPPPSPTPNKEMKNKAV
LCKPLTMTKATYCKPHMQTKSCQTDDTWRTEYVPVPIPVPVYIPVPMHMY
SQNIPVPTTVPVPVPVPVFLPAPLDSSEKIPAAIEELKSKVSSDALDTEL
LTMTDMMSEDEGKTETTNINSVIIETDIIGSDLLKNSDPETQSSMPDVPY
EPDLDIEIDFPRAAEELDMENEFLLPPVFGEEYEEQPRPRSKKKGAKRKA
VSGYQSHDDSSDNSECSFPFKYTYGVNAWKHWVKTRQLDEDLLVLDELKS
SKSVKLKEDLLSHTTAELNYGLAHFVNEIRRPNGENYAPDSIYYLCLGIQ
EYLCGSNRKDNIFIDPGYQTFEQELNKILRSWQPSILPDGSIFSRVEEDY
LWRIKQLGSHSPVALLNTLFYFNTKYFGLKTVEQHLRLSFGTVFRHWKKN
PLTMENKACLRYQVSSLCGTDNEDKITTGKRKHEDDEPVFEQIENTANPS
RCPVKMFECYLSKSPQNLNQRMDVFYLQPECSSSTDSPVWYTSTSLDRNT
LENMLVRVLLVKDIYDKDNYELDEDTD
Simboli

Kloniranje i ekspresija[uredi | uredi izvor]

Xiao i et al. (1998) identificirali su gen ZNF198 kao partnera za translokaciju gena receptora-1 za faktor rasta fibroblasta (FGFR1) u mijeloproliferativnom sindromu 8p11, poznatom i kao sindrom leukemija/limfom matičnih ćelija (SCLL) specifična translokacija hromosoma, t (8; 13) (p11; q11-12). Sekvenca njegove cDNK predviđala je 87,1-kD-ski protein sa četiri netipska cinkova prsta. Northern blot analiza otkrila je sveprisutnu ekspresiju transkripta od 4,5 kb, pri čemu većina tkiva također eksprimira transkripte od 7,5 i 10 kb.[10]

Smedley i dr. (1998) također su identificirali gen ZNF198, koji su nazvali RAMP, i otkrili da predviđeni protein pokazuje jaku homologiju s proizvodom gena DXS6673E (ZMYM3).[11]

Reiter et al. (1998) otkrili su da ZNF198 cijele dužine kodira izvedeni protein od 1.377 aminokiselina s izračunatom molekulskom masom od 155 kD. On ima značajnu homologiju sa proizvodima gena DXS6673E i KIAA0425. Poravnavanjem ova tri proteina otkriven je novi konzervirani motiv s cinkovim prstima, MYM domena, koji se ponavljao pet puta u svakom proteinu. ZNF198 takođe ima regiju bogatu prolinom, koja se nalazi C-terminalno do posljednjeg MYM domena. Kunapuli et al. (2006) primijetili su da ZNF198 pune dužine ima C-terminalni kiseli domen koji sadrži navodni signal jedarne lokalizacije.[12] Koristeći RT-PCR, Kulkarni et al. (1999) otkrili su nekoliko varijanti prerade ZNF198 koje su rezultat alternativnih promotora, preskakanja nekodirajućih egzona 2 i/ili 3 i alternativnog prerađivanja unutar egzona 4, koje smanjuje dužinu predviđenog proteina za 87 aminokiselina.[13]

Također pogledajte[uredi | uredi izvor]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121741 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021945 - 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. ^ Smedley D, Hamoudi R, Clark J, Warren W, Abdul-Rauf M, Somers G, Venter D, Fagan K, Cooper C, Shipley J (April 1998). "The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP". Human Molecular Genetics. 7 (4): 637–42. doi:10.1093/hmg/7.4.637. PMID 9499416.
  6. ^ Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA (January 1998). "FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome". Nature Genetics. 18 (1): 84–7. doi:10.1038/ng0198-84. PMID 9425908.
  7. ^ "Entrez Gene: ZMYM2 zinc finger, MYM-type 2".
  8. ^ Kojima, K. K., Jurka, J. Crypton transposons: identification of new diverse families and ancient domestication events. Mobile DNA 2: 12, 2011. Note: Electronic Article. PubMed: 22011512
  9. ^ "UniProt, Q9UBW7". Pristupljeno 2017-09-11. CS1 održavanje: nepreporučeni parametar (link)
  10. ^ Xiao, S., Nalabolu, S. R., Aster, J. C., Ma, J., Abruzzo, L., Jaffe, E. S., Stone, R., Weissman, S. M., Hudson, T. J., Fletcher, J. A. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nature Genet. 18: 84-87, 1998. PubMed: 9425908
  11. ^ Smedley, D., Hamoudi, R., Clark, J., Warren, W., Abdul-Rauf, M., Somers, G., Venter, D., Fagan, K., Cooper, C., Shipley, J. The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP. Hum. Molec. Genet. 7: 637-642, 1998. PubMed: 9499416
  12. ^ Reiter, A., Sohal, J., Kulkarni, S., Chase, A., Macdonald, D. H. C., Aguiar, R. C. T., Goncalves, C., Hernandez, J. M., Jennings, B. A., Goldman, J. M., Cross, N. C. P. Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. Blood 92: 1735-1742, 1998. PubMed: 9716603
  13. ^ Kulkarni, S., Reiter, A., Smedley, D., Goldman, J. M., Cross, N. C. P. The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. Genomics 55: 118-121, 1999. PubMed: 9889006

Dopunska literatura[uredi | uredi izvor]