RAI1 (gen)

RAI1
Identifikatori
Aliasi	RAI1
Vanjski ID-jevi	OMIM: 607642 MGI: 103291 HomoloGene: 7508 GeneCards: RAI1
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	17,811,453 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	60,199,197 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje iona metala; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity;
Ćelijska komponenta	• citoplazma; • mitohondrija; • nukleoplazma; • jedro;
Biološki proces	• GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • skeletal system development; • negative regulation of multicellular organism growth; • 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; • circadian regulation of gene expression; • rhythmic process; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II;
	Izvori:Amigo / QuickGO
Ortolozi
	10743
	19377
	ENSG00000108557
	ENSMUSG00000062115
	Q7Z5J4
	Q61818
	NM_030665; NM_017574; NM_152256
	NM_001037764; NM_009021
	NP_109590
	NP_001032853; NP_033047
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

RAI1 je transkripcijski faktor pridružen Smith–Magenisovom sindromu, u slučajevima kada osobe imaju delecije gena, Potocki–Lupskijev sindrom i duplikaciju. Poznat je kao protein koji je iducuran retinojskom kiselinom 1.

Dužina polipeptidnog lanca je 1.906 aminokiselina, a molekulska težina 203.352 Da^[5].

Aminokiselinska sekvenca

Simboli

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
MQSFRERCGF	HGKQQNYQQT	SQETSRLENY	RQPSQAGLSC	DRQRLLAKDY
YNPQPYPSYE	GGAGTPSGTA	AAVAADKYHR	GSKALPTQQG	LQGRPAFPGY
GVQDSSPYPG	RYAGEESLQA	WGAPQPPPPQ	PQPLPAGVAK	YDENLMKKTA
VPPSRQYAEQ	GAQVPFRTHS	LHVQQPPPPQ	QPLAYPKLQR	QKLQNDIASP
LPFPQGTHFP	QHSQSFPTSS	TYSSSVQGGG	QGAHSYKSCT	APTAQPHDRP
LTASSSLAPG	QRVQNLHAYQ	SGRLSYDQQQ	QQQQQQQQQQ	QALQSRHHAQ
ETLHYQNLAK	YQHYGQQGQG	YCQPDAAVRT	PEQYYQTFSP	SSSHSPARSV
GRSPSYSSTP	SPLMPNLENF	PYSQQPLSTG	AFPAGITDHS	HFMPLLNPSP
TDATSSVDTQ	AGNCKPLQKD	KLPENLLSDL	SLQSLTALTS	QVENISNTVQ
QLLLSKAAVP	QKKGVKNLVS	RTPEQHKSQH	CSPEGSGYSA	EPAGTPLSEP
PSSTPQSTHA	EPQEADYLSG	SEDPLERSFL	YCNQARGSPA	RVNSNSKAKP
ESVSTCSVTS	PDDMSTKSDD	SFQSLHGSLP	LDSFSKFVAG	ERDCPRLLLS
ALAQEDLASE	ILGLQEAIGE	KADKAWAEAP	SLVKDSSKPP	FSLENHSACL
DSVAKSAWPR	PGEPEALPDS	LQLDKGGNAK	DFSPGLFEDP	SVAFATPDPK
KTTGPLSFGT	KPTLGVPAPD	PTTAAFDCFP	DTTAASSADS	ANPFAWPEEN
LGDACPRWGL	HPGELTKGLE	QGGKASDGIS	KGDTHEASAC	LGFQEEDPPG
EKVASLPGDF	KQEEVGGVKE	EAGGLLQCPE	VAKADRWLED	SRHCCSTADF
GDLPLLPPTS	RKEDLEAEEE	YSSLCELLGS	PEQRPGMQDP	LSPKAPLICT
KEEVEEVLDS	KAGWGSPCHL	SGESVILLGP	TVGTESKVQS	WFESSLSHMK
PGEEGPDGER	APGDSTTSDA	SLAQKPNKPA	VPEAPIAKKE	PVPRGKSLRS
RRVHRGLPEA	EDSPCRAPVL	PKDLLLPESC	TGPPQGQMEG	AGAPGRGASE
GLPRMCTRSL	TALSEPRTPG	PPGLTTTPAP	PDKLGGKQRA	AFKSGKRVGK
PSPKAASSPS	NPAALPVASD	SSPMGSKTKE	TDSPSTPGKD	QRSMILRSRT
KTQEIFHSKR	RRPSEGRLPN	CRATKKLLDN	SHLPATFKVS	SSPQKEGRVS
QRARVPKPGA	GSKLSDRPLH	ALKRKSAFMA	PVPTKKRNLV	LRSRSSSSSN
ASGNGGDGKE	ERPEGSPTLF	KRMSSPKKAK	PTKGNGEPAT	KLPPPETPDA
CLKLASRAAF	QGAMKTKVLP	PRKGRGLKLE	AIVQKITSPS	LKKFACKAPG
ASPGNPLSPS	LSDKDRGLKG	AGGSPVGVEE	GLVNVGTGQK	LPTSGADPLC
RNPTNRSLKG	KLMNSKKLSS	TDCFKTEAFT	SPEALQPGGT	ALAPKKRSRK
GRAGAHGLSK	GPLEKRPYLG	PALLLTPRDR	ASGTQGASED	NSGGGGKKPK
MEELGLASQP	PEGRPCQPQT	RAQKQPGHTN	YSSYSKRKRL	TRGRAKNTTS
SPCKGRAKRR	RQQQVLPLDP	AEPEIRLKYI	SSCKRLRSDS	RTPAFSPFVR
VEKRDAFTTI	CTVVNSPGDA	PKPHRKPSSS	ASSSSSSSSF	SLDAAGASLA
TLPGGSILQP	RPSLPLSSTM	HLGPVVSKAL	STSCLVCCLC	QNPANFKDLG
DLCGPYYPEH	CLPKKKPKLK	EKVRPEGTCE	EASLPLERTL	KGPECAAAAT
AGKPPRPDGP	ADPAKQGPLR	TSARGLSRRL	QSCYCCDGRE	DGGEEAAPAD
KGRKHECSKE	APAEPGGEAQ	EHWVHEACAV	WTGGVYLVAG	KLFGLQEAMK
VAVDMMCSSC	QEAGATIGCC	HKGCLHTYHY	PCASDAGCIF	IEENFSLKCP
KHKRLP

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome
RAI1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108557 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000062115 - 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.
^ "UniProt, Q7Z5J4". Pristupljeno 15. 6. 2021.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108557 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000062115 - 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.

[UniProt-5] "UniProt, Q7Z5J4". Pristupljeno 15. 6. 2021.

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