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RAR-beta
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1HRA, 1XAP, 4DM6, 4DM8, 4JYG, 4JYH, 4JYI
Identifikatori
Aliasi	RARB
Vanjski ID-jevi	OMIM: 180220 MGI: 97857 HomoloGene: 68100 GeneCards: RARB
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	25,597,932 bp
Lokacija gena (miš)
Hrom.	Hromosom 14 (miš)
Kraj	6,038,924 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje sa DNK; • sequence-specific DNA binding; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • vezivanje iona cinka; • vezivanje iona metala; • steroid hormone receptor activity; • GO:0001948, GO:0016582 vezivanje za proteine; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • GO:0032403 protein-containing complex binding; • retinoid X receptor binding; • GO:0000975 transcription cis-regulatory region binding; • transcription factor binding; • nuclear receptor coactivator activity; • signaling receptor activity; • GO:0038050, GO:0004886, GO:0038051 nuclear receptor activity;
Ćelijska komponenta	• citoplazma; • nukleoplazma; • jedro; • RNA polymerase II transcription regulator complex;
Biološki proces	• growth plate cartilage development; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • neurogenesis; • ureteric bud development; • GO:0009373 regulation of transcription, DNA-templated; • negative regulation of cartilage development; • multicellular organism growth; • embryonic eye morphogenesis; • positive regulation of programmed cell death; • negative regulation of apoptotic process; • GO:1901227 negative regulation of transcription by RNA polymerase II; • retinal pigment epithelium development; • transcription, DNA-templated; • outflow tract septum morphogenesis; • negative regulation of chondrocyte differentiation; • retinoic acid receptor signaling pathway; • regulation of myelination; • retina development in camera-type eye; • positive regulation of neuron differentiation; • positive regulation of cell population proliferation; • positive regulation of apoptotic process; • ventricular cardiac muscle cell differentiation; • transcription initiation from RNA polymerase II promoter; • bone development; • embryonic digestive tract development; • striatum development; • GO:0072468 Transdukcija signala; • negative regulation of cell population proliferation; • glandular epithelial cell development; • steroid hormone mediated signaling pathway; • embryonic hindlimb morphogenesis; • liver development; • multicellular organism development; • hormone-mediated signaling pathway; • Ćelijska diferencijacija; • response to retinoic acid; • response to lipid; • gland development; • bone morphogenesis; • epithelium development; • cellular response to retinoic acid;
	Izvori:Amigo / QuickGO
Ortolozi
	5915
	218772
	ENSG00000077092
	ENSMUSG00000017491
	P10826; Q5QHG3
	P22605
NM_000965; NM_001290216; NM_001290217; NM_001290266; NM_001290276;
	NM_001290277; NM_001290300; NM_016152
	NM_001289760; NM_001289761; NM_001289762; NM_011243
NP_000956; NP_001277145; NP_001277146; NP_001277195; NP_001277205;
	NP_001277206; NP_001277229; NP_057236; NP_001277146.1; NP_001277205.1; NP_057236.1
	NP_001276689; NP_001276690; NP_001276691; NP_035373
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Receptor retinoidne kiseline beta (RAR-beta), znan i kao NR1B2 (član 2 B grupe potporodice 1 jedarnog receptora) je jedarni receptor jest protein koji je kod ljudi kodiran genom RARB sa hromosoma 3.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 455 aminokiselina, a molekulska težina 50.489 Da.^[5]

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

10	20	30	40	50
MTTSGHACPV	PAVNGHMTHY	PATPYPLLFP	PVIGGLSLPP	LHGLHGHPPP
SGCSTPSPAT	IETQSTSSEE	LVPSPPSPLP	PPRVYKPCFV	CQDKSSGYHY
GVSACEGCKG	FFRRSIQKNM	IYTCHRDKNC	VINKVTRNRC	QYCRLQKCFE
VGMSKESVRN	DRNKKKKETS	KQECTESYEM	TAELDDLTEK	IRKAHQETFP
SLCQLGKYTT	NSSADHRVRL	DLGLWDKFSE	LATKCIIKIV	EFAKRLPGFT
GLTIADQITL	LKAACLDILI	LRICTRYTPE	QDTMTFSDGL	TLNRTQMHNA
GFGPLTDLVF	TFANQLLPLE	MDDTETGLLS	AICLICGDRQ	DLEEPTKVDK
LQEPLLEALK	IYIRKRRPSK	PHMFPKILMK	ITDLRSISAK	GAERVITLKM
EIPGSMPPLI	QEMLENSEGH	EPLTPSSSGN	TAEHSPSISP	SSVENSGVSQ
SPLVQ

Funkcija

Ovaj gen kodira beta receptor retinoidne kiseline, član superfamilije receptora za hormone štitnjače, regulatora jedarne transkripcije. Ovaj receptor nalazi se u citoplazmi i u subjedarnim odjeljcima. Veže retinoidnu kiselinu, biološki aktivni oblik vitamina A koji posreduje ćelijsku signalizaciju u morfogenezi embriona, rastu i diferencijaciji ćelija. Smatra se da ovaj protein ograničava rast mnogih tipova ćelija regulacijom ćelijskoj diferencijaciji i ekspresije gena. Gen je prvi put identificiran u hepatćelijskom karcinomu gdje se nalazi na boku mjesta integracije virusa hepatitisa B. Deregulacija ovog gena je također otkrivena u preneoplazijskim lezijama karcinoma grlića materice.^[7] Gen eksprimira najmanje dvije varijante transkripta; opisan je još jedan transkript, ali nije utvrđena njegova puna dužina.^[5]

Epigenetika

Uočeno je da je beta aberantni promotor receptora retinoidne kiseline hipermetilacije DNK povezan sa pojavom/progresijom raka. Zaista, ovaj neprikladan epigenetički fenomen je uočen kod žena zahvaćenih karcinomom skvamoznih ćelija vulve nastao je iz vulvinnog lichen sclerosus.^[8] Metilacija beta promotora receptora retinoične kiseline može biti marker rizika od raka kod pacijenata oboljelih od ove bolesti.^[8]

Interakcije

Pokazalo se da receptor beta receptora retinoidne kiseline reaguje sa NR4A2.^[9]

Također pogledajte

Receptor retinoidne kiseline

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000077092 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017491 - 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.
^ ^a ^b ^c "Entrez Gene: RARB retinoic acid receptor, beta".
^ Mattei MG, de Thé H, Mattei JF, Marchio A, Tiollais P, Dejean A (Oct 1988). "Assignment of the human hap retinoic acid receptor RAR beta gene to the p24 band of chromosome 3". Human Genetics. 80 (2): 189–90. doi:10.1007/BF00702867. PMID 2844650. S2CID 23090420.
^ Rotondo JC, Bosi S, Bassi C, Ferracin M, Lanza G, Gafà R, Magri E, Selvatici R, Torresani S, Marci R, Garutti P, Negrini M, Tognon M, Martini F (April 2015). "Gene expression changes in progression of cervical neoplasia revealed by microarray analysis of cervical neoplastic keratinocytes". J Cell Physiol. 230 (4): 802–812. doi:10.1002/jcp.24808. PMID 25205602. S2CID 24986454.
^ ^a ^b Rotondo JC, Borghi A, Selvatici R, Mazzoni E, Bononi I, Corazza M, Kussini J, Montinari E, Gafà R, Tognon M, Martini F (2018). "Association of Retinoic Acid Receptor β Gene With Onset and Progression of Lichen Sclerosus-Associated Vulvar Squamous Cell Carcinoma". JAMA Dermatology. 154 (7): 819–823. doi:10.1001/jamadermatol.2018.1373. PMC 6128494. PMID 29898214.
^ Perlmann T, Jansson L (Apr 1995). "A novel pathway for vitamin A signaling mediated by RXR heterodimerization with NGFI-B and NURR1". Genes & Development. 9 (7): 769–82. doi:10.1101/gad.9.7.769. PMID 7705655.

Dopunska literatura

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Hoffmann B, Lehmann JM, Zhang XK, Hermann T, Husmann M, Graupner G, Pfahl M (Nov 1990). "A retinoic acid receptor-specific element controls the retinoic acid receptor-beta promoter". Molecular Endocrinology. 4 (11): 1727–36. doi:10.1210/mend-4-11-1727. PMID 2177841.
de Thé H, Marchio A, Tiollais P, Dejean A (1988). "A novel steroid thyroid hormone receptor-related gene inappropriately expressed in human hepatocellular carcinoma". Nature. 330 (6149): 667–70. doi:10.1038/330667a0. PMID 2825037. S2CID 4327614.
Brand N, Petkovich M, Krust A, Chambon P, de Thé H, Marchio A, Tiollais P, Dejean A (Apr 1988). "Identification of a second human retinoic acid receptor". Nature. 332 (6167): 850–3. Bibcode:1988Natur.332..850B. doi:10.1038/332850a0. PMID 2833708. S2CID 4349193.
Benbrook D, Lernhardt E, Pfahl M (Jun 1988). "A new retinoic acid receptor identified from a hepatocellular carcinoma". Nature. 333 (6174): 669–72. Bibcode:1988Natur.333..669B. doi:10.1038/333669a0. PMID 2836738. S2CID 4313063.
Dejean A, Bougueleret L, Grzeschik KH, Tiollais P (1986). "Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma". Nature. 322 (6074): 70–2. Bibcode:1986Natur.322...70D. doi:10.1038/322070a0. PMID 3014347. S2CID 4355348.
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