ARID5B

ARID5B
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1IG6, 2OEH
Identifikatori
Aliasi	ARID5B
Vanjski ID-jevi	OMIM: 608538 MGI: 2175912 HomoloGene: 45872 GeneCards: ARID5B
Lokacija gena (čovjek)
Hrom.	Hromosom 10 (čovjek)
Kraj	62,096,944 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	68,114,570 bp
Ontologija gena
Molekularna funkcija	• vezivanje sa DNK; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • GO:0001105 transcription coactivator activity; • GO:0001948, GO:0016582 vezivanje za proteine; • 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
	84159
	71371
	ENSG00000150347
	ENSMUSG00000019947
	Q14865
	Q8BM75
	NM_001244638; NM_032199
	NM_023598
	NP_001231567; NP_115575
	NP_076087
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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]

Aminokiselinska sekvenca

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

10	20	30	40	50
MEPNSLQWVG	SPCGLHGPYI	FYKAFQFHLE	GKPRILSLGD	FFFVRCTPKD
PICIAELQLL	WEERTSRQLL	SSSKLYFLPE	DTPQGRNSDH	GEDEVIAVSE
KVIVKLEDLV	KWVHSDFSKW	RCGFHAGPVK	TEALGRNGQK	EALLKYRQST
LNSGLNFKDV	LKEKADLGED	EEETNVIVLS	YPQYCRYRSM	LKRIQDKPSS
ILTDQFALAL	GGIAVVSRNP	QILYCRDTFD	HPTLIENESI	CDEFAPNLKG
RPRKKKPCPQ	RRDSFSGVKD	SNNNSDGKAV	AKVKCEARSA	LTKPKNNHNC
KKVSNEEKPK	VAIGEECRAD	EQAFLVALYK	YMKERKTPIE	RIPYLGFKQI
NLWTMFQAAQ	KLGGYETITA	RRQWKHIYDE	LGGNPGSTSA	ATCTRRHYER
LILPYERFIK	GEEDKPLPPI	KPRKQENSSQ	ENENKTKVSG	TKRIKHEIPK
SKKEKENAPK	PQDAAEVSSE	QEKEQETLIS	QKSIPEPLPA	ADMKKKIEGY
QEFSAKPLAS	RVDPEKDNET	DQGSNSEKVA	EEAGEKGPTP	PLPSAPLAPE
KDSALVPGAS	KQPLTSPSAL	VDSKQESKLC	CFTESPESEP	QEASFPSFPT
TQPPLANQNE	TEDDKLPAMA	DYIANCTVKV	DQLGSDDIHN	ALKQTPKVLV
VQSFDMFKDK	DLTGPMNENH	GLNYTPLLYS	RGNPGIMSPL	AKKKLLSQVS
GASLSSSYPY	GSPPPLISKK	KLIARDDLCS	SLSQTHHGQS	TDHMAVSRPS
VIQHVQSFRS	KPSEERKTIN	DIFKHEKLSR	SDPHRCSFSK	HHLNPLADSY
VLKQEIQEGK	DKLLEKRALP	HSHMPSFLAD	FYSSPHLHSL	YRHTEHHLHN
EQTSKYPSRD	MYRESENSSF	PSHRHQEKLH	VNYLTSLHLQ	DKKSAAAEAP
TDDQPTDLSL	PKNPHKPTGK	VLGLAHSTTG	PQESKGISQF	QVLGSQSRDC
HPKACRVSPM	TMSGPKKYPE	SLSRSGKPHH	VRLENFRKME	GMVHPILHRK
MSPQNIGAAR	PIKRSLEDLD	LVIAGKKARA	VSPLDPSKEV	SGKEKASEQE
SEGSKAAHGG	HSGGGSEGHK	LPLSSPIFPG	LYSGSLCNSG	LNSRLPAGYS
HSLQYLKNQT	VLSPLMQPLA	FHSLVMQRGI	FTSPTNSQQL	YRHLAAATPV
GSSYGDLLHN	SIYPLAAINP	QAAFPSSQLS	SVHPSTKL

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

Genomika

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000150347 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019947 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: ARID5B AT rich interactive domain 5B (MRF1-like)".
^ "UniProt, Q14865". Pristupljeno 29. 8. 2021.
^ 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.
^ 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.
^ 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.
^ 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

Yuan YC, Whitson RH, Liu Q, Itakura K, Chen Y (Nov 1998). "A novel DNA-binding motif shares structural homology to DNA replication and repair nucleases and polymerases". Nature Structural Biology. 5 (11): 959–64. doi:10.1038/2934. PMID 9808040. S2CID 10099806.
Whitson RH, Huang T, Itakura K (maj 1999). "The novel Mrf-2 DNA-binding domain recognizes a five-base core sequence through major and minor-groove contacts". Biochemical and Biophysical Research Communications. 258 (2): 326–31. doi:10.1006/bbrc.1999.0643. PMID 10329386.
Patsialou A, Wilsker D, Moran E (2005). "DNA-binding properties of ARID family proteins". Nucleic Acids Research. 33 (1): 66–80. doi:10.1093/nar/gki145. PMC 546134. PMID 15640446.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

Vanjski linkovi

Lokacija ljudskog genoma ARID5B i stranica sa detaljima o genu ARID5B u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000150347 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 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.

[pmid11483573-5] 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.

[pmid11478881-6] 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.

[entrez-7] "Entrez Gene: ARID5B AT rich interactive domain 5B (MRF1-like)".

[UniProt-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.

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