ARID5B

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 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)[1] Bend 10q21.2 Početak 61,901,684 bp[1] Kraj 62,096,944 bp[1]
Lokacija gena (miš) Hrom. Hromosom 10 (miš)[2] Bend 10|10 B5.1- B5.2 Početak 67,928,350 bp[2] Kraj 68,114,570 bp[2]
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
Vrste	Čovjek	Miš
Entrez	84159	71371
Ensembl	ENSG00000150347	ENSMUSG00000019947
UniProt	Q14865	Q8BM75
RefSeq (mRNK)	NM_001244638 NM_032199	NM_023598
RefSeq (bjelančevina)	NP_001231567 NP_115575	NP_076087
Lokacija (UCSC)	Chr 10: 61.9 – 62.1 Mb	Chr 10: 67.93 – 68.11 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

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

1. GRCh38: Ensembl release 89: ENSG00000150347 - Ensembl, maj 2017
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.
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

• 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.