AT-bogati interaktivni protein 5B sa domenom, alternativno zvani faktor prepoznavanja modulatora 23, jest protein koji je kod ljudi kodiran genom ARID5B.[5][6][7]

ARID5B
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

1IG6, 2OEH

Identifikatori
AliasiARID5B
Vanjski ID-jeviOMIM: 608538 MGI: 2175912 HomoloGene: 45872 GeneCards: ARID5B
Lokacija gena (čovjek)
Hromosom 10 (čovjek)
Hrom.Hromosom 10 (čovjek)[1]
Hromosom 10 (čovjek)
Genomska lokacija za ARID5B
Genomska lokacija za ARID5B
Bend10q21.2Početak61,901,684 bp[1]
Kraj62,096,944 bp[1]
Lokacija gena (miš)
Hromosom 10 (miš)
Hrom.Hromosom 10 (miš)[2]
Hromosom 10 (miš)
Genomska lokacija za ARID5B
Genomska lokacija za ARID5B
Bend10|10 B5.1- B5.2Početak67,928,350 bp[2]
Kraj68,114,570 bp[2]
Ontologija gena
Molekularna funkcija DNA binding
RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0001105 transcription coactivator activity
GO:0001948, GO:0016582 protein binding
GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific
histone demethylase activity
GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific
Ćelijska komponenta Nukleoplazma
Jedro
Biološki proces GO:0009373 regulation of transcription, DNA-templated
GO:1901227 negative regulation of transcription by RNA polymerase II
transcription, DNA-templated
liver development
GO:0045996 negative regulation of transcription, DNA-templated
histone demethylation
Nefrogeneza
nitrogen compound metabolic process
male gonad development
female gonad development
post-embryonic development
fibroblast migration
adrenal gland development
multicellular organism growth
fat cell differentiation
platelet-derived growth factor receptor signaling pathway
cell development
muscle organ morphogenesis
skeletal system morphogenesis
positive regulation of DNA-binding transcription factor activity
roof of mouth development
face morphogenesis
adipose tissue development
fat pad development
cellular response to leukemia inhibitory factor
positive regulation of nucleic acid-templated transcription
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
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001244638
NM_032199

NM_023598

RefSeq (bjelančevina)

NP_001231567
NP_115575

NP_076087

Lokacija (UCSC)Chr 10: 61.9 – 62.1 MbChr 10: 67.93 – 68.11 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 1.188 aminokiselina, а molekulska težina 132.375 Da.[8]

1020304050
MEPNSLQWVGSPCGLHGPYIFYKAFQFHLEGKPRILSLGDFFFVRCTPKD
PICIAELQLLWEERTSRQLLSSSKLYFLPEDTPQGRNSDHGEDEVIAVSE
KVIVKLEDLVKWVHSDFSKWRCGFHAGPVKTEALGRNGQKEALLKYRQST
LNSGLNFKDVLKEKADLGEDEEETNVIVLSYPQYCRYRSMLKRIQDKPSS
ILTDQFALALGGIAVVSRNPQILYCRDTFDHPTLIENESICDEFAPNLKG
RPRKKKPCPQRRDSFSGVKDSNNNSDGKAVAKVKCEARSALTKPKNNHNC
KKVSNEEKPKVAIGEECRADEQAFLVALYKYMKERKTPIERIPYLGFKQI
NLWTMFQAAQKLGGYETITARRQWKHIYDELGGNPGSTSAATCTRRHYER
LILPYERFIKGEEDKPLPPIKPRKQENSSQENENKTKVSGTKRIKHEIPK
SKKEKENAPKPQDAAEVSSEQEKEQETLISQKSIPEPLPAADMKKKIEGY
QEFSAKPLASRVDPEKDNETDQGSNSEKVAEEAGEKGPTPPLPSAPLAPE
KDSALVPGASKQPLTSPSALVDSKQESKLCCFTESPESEPQEASFPSFPT
TQPPLANQNETEDDKLPAMADYIANCTVKVDQLGSDDIHNALKQTPKVLV
VQSFDMFKDKDLTGPMNENHGLNYTPLLYSRGNPGIMSPLAKKKLLSQVS
GASLSSSYPYGSPPPLISKKKLIARDDLCSSLSQTHHGQSTDHMAVSRPS
VIQHVQSFRSKPSEERKTINDIFKHEKLSRSDPHRCSFSKHHLNPLADSY
VLKQEIQEGKDKLLEKRALPHSHMPSFLADFYSSPHLHSLYRHTEHHLHN
EQTSKYPSRDMYRESENSSFPSHRHQEKLHVNYLTSLHLQDKKSAAAEAP
TDDQPTDLSLPKNPHKPTGKVLGLAHSTTGPQESKGISQFQVLGSQSRDC
HPKACRVSPMTMSGPKKYPESLSRSGKPHHVRLENFRKMEGMVHPILHRK
MSPQNIGAARPIKRSLEDLDLVIAGKKARAVSPLDPSKEVSGKEKASEQE
SEGSKAAHGGHSGGGSEGHKLPLSSPIFPGLYSGSLCNSGLNSRLPAGYS
HSLQYLKNQTVLSPLMQPLAFHSLVMQRGIFTSPTNSQQLYRHLAAATPV
GSSYGDLLHNSIYPLAAINPQAAFPSSQLSSVHPSTKL

Genomika uredi

Gen se nalazi na dugom kraku hromosoma 10 (10q21.2)]] na "plus" lancu. Proteže se na 195 261 parova baza. Kodira protein predviđene dužine i molekulske težine od 1.188 aminokiselina, odnosno 132.375 kD.

Klinički značaj uredi

Kroz studije o širokom asocijaciji genoma (GWAS), primijećeno je da su neki od jednonukleotidnih polimorfizama (SNP) koji se nalaze u ovom genu značajno povezani sa osjetljivošću [9][10][11] as well as treatment outcomes [12] na akutne limfoblastne leukemije u dječjoj dobi u etnički različitim populacijama.

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000150347 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019947 - 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. ^ Lahoud MH, Ristevski S, Venter DJ, Jermiin LS, Bertoncello I, Zavarsek S, Hasthorpe S, Drago J, de Kretser D, Hertzog PJ, Kola I (Aug 2001). "Gene targeting of Desrt, a novel ARID class DNA-binding protein, causes growth retardation and abnormal development of reproductive organs". Genome Research. 11 (8): 1327–34. doi:10.1101/gr.168801. PMID 11483573.
  6. ^ Zhu L, Hu J, Lin D, Whitson R, Itakura K, Chen Y (Aug 2001). "Dynamics of the Mrf-2 DNA-binding domain free and in complex with DNA". Biochemistry. 40 (31): 9142–50. doi:10.1021/bi010476a. PMID 11478881.
  7. ^ "Entrez Gene: ARID5B AT rich interactive domain 5B (MRF1-like)".
  8. ^ "UniProt, Q14865". Pristupljeno 29. 8. 2021.
  9. ^ Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, et al. (maj 2013). "Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations". Journal of the National Cancer Institute. 105 (10): 733–42. doi:10.1093/jnci/djt042. PMC 3691938. PMID 23512250.
  10. ^ Treviño LR, Yang W, French D, Hunger SP, Carroll WL, Devidas M, et al. (septembar 2009). "Germline genomic variants associated with childhood acute lymphoblastic leukemia". Nature Genetics. 41 (9): 1001–5. doi:10.1038/ng.432. PMC 2762391. PMID 19684603.
  11. ^ Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, et al. (septembar 2009). "Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia". Nature Genetics. 41 (9): 1006–10. doi:10.1038/ng.430. PMC 4915548. PMID 19684604.
  12. ^ Xu H, Cheng C, Devidas M, Pei D, Fan Y, Yang W, et al. (mart 2012). "ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia". Journal of Clinical Oncology. 30 (7): 751–7. doi:10.1200/JCO.2011.38.0345. PMC 3295551. PMID 22291082.

Dopunska literatura uredi

Vanjski linkovi uredi