Q7Z5J4 (RAI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Retinoic acid-induced protein 1

Gene names

Name:	RAI1
Synonyms:	KIAA1820

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1906 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May function as a transcriptional regulator. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation By similarity.
Subcellular location	Cytoplasm. Nucleus. Note: In neurons, localized to neurites By similarity.
Tissue specificity	Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain. Ref.2
Polymorphism	The poly-Gln tract is polymorphic and the number of Gln varies from 12 to 14. The size of the poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2 (SCA2).
Involvement in disease	Smith-Magenis syndrome (SMS) [MIM:182290]: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Contains 1 PHD-type zinc finger.
Sequence caution	The sequence BAB47449.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism Triplet repeat expansion
Domain	Zinc-finger
Ligand	Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of multicellular organism growth Inferred from electronic annotation. Source: Compara regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara skeletal system development Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7Z5J4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q7Z5J4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     207-233: THFPQHSQSFPTSSTYSSSVQGGGQGA → WWAGG
     407-434: VDTQAGNCKPLQKDKLPENLLSDLSLQS → PAD
     1415-1479: Missing.
     1803-1821: Missing.
     1856-1906: MCSSCQEAGA...LKCPKHKRLP → HGGTVALAPG...LCWAMPGTWK

Isoform 3 (identifier: Q7Z5J4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1598-1640: FVRVEKRDAF...ASSSSSSSSF → LEPSLGAQNP...AYSAREQGQR
     1641-1906: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q7Z5J4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     947-966: SHMKPGEEGPDGERAPGDST → YSVYICIHIHIYNIYEDCKC
     967-1906: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1906	1906	Retinoic acid-induced protein 1		PRO_0000097159
Regions
	Zinc finger	1856 – 1903	48	PHD-type
	Motif	1160 – 1177	18	Nuclear localization signal Potential
	Motif	1223 – 1240	18	Nuclear localization signal Potential
	Compositional bias	124 – 135	12	Poly-Pro
	Compositional bias	156 – 336	181	Gln-rich
	Compositional bias	278 – 291	14	Poly-Gln
	Compositional bias	1243 – 1249	7	Poly-Ser
	Compositional bias	1493 – 1496	4	Poly-Gly
	Compositional bias	1628 – 1641	14	Ser-rich
	Compositional bias	1746 – 1751	6	Poly-Ala
Amino acid modifications
	Modified residue	568	1	Phosphoserine Ref.11
	Modified residue	683	1	Phosphoserine Ref.9 Ref.10 Ref.11
	Modified residue	696	1	Phosphothreonine Ref.9
	Modified residue	880	1	Phosphoserine Ref.9
	Modified residue	892	1	Phosphoserine Ref.9
	Modified residue	1064	1	Phosphoserine Ref.10
	Modified residue	1068	1	Phosphothreonine Ref.10
	Modified residue	1122	1	Phosphoserine Ref.9
	Modified residue	1352	1	Phosphoserine Ref.9 Ref.11
	Modified residue	1358	1	Phosphoserine Ref.9 Ref.11
	Modified residue	1374	1	Phosphoserine Ref.9 Ref.10 Ref.11
	Modified residue	1431	1	Phosphoserine Ref.9
Natural variations
	Alternative sequence	207 – 233	27	THFPQ…GGQGA → WWAGG in isoform 2.		VSP_010995
	Alternative sequence	407 – 434	28	VDTQA…LSLQS → PAD in isoform 2.		VSP_010996
	Alternative sequence	947 – 966	20	SHMKP…PGDST → YSVYICIHIHIYNIYEDCKC in isoform 4.		VSP_010997
	Alternative sequence	967 – 1906	940	Missing in isoform 4.		VSP_010998
	Alternative sequence	1415 – 1479	65	Missing in isoform 2.		VSP_010999
	Alternative sequence	1598 – 1640	43	FVRVE…SSSSF → LEPSLGAQNPRSGQNAPPAP ADARPLCTTRDRRAYSAREQ GQR in isoform 3.		VSP_011000
	Alternative sequence	1641 – 1906	266	Missing in isoform 3.		VSP_011001
	Alternative sequence	1803 – 1821	19	Missing in isoform 2.		VSP_011002
	Alternative sequence	1856 – 1906	51	MCSSC…HKRLP → HGGTVALAPGDFSLPGLRFA SLFQGPSWCDCPVLATSTPS SWSRCVPAAKKPGPPLGAAT KDASTPTTTRVPAMQVRARP GTGGHWSPSKQSRGTLPGHS SPNPGPISLFSFPPLLPQQF FYPSVCLDLCWAMPGTWK in isoform 2.		VSP_011003
	Natural variant	90	1	G → A. Corresponds to variant rs3803763 [ dbSNP | Ensembl ].		VAR_051300
	Natural variant	165	1	P → T. Corresponds to variant rs11649804 [ dbSNP | Ensembl ].		VAR_024344
	Natural variant	939	1	Q → P. Corresponds to variant rs1759075 [ dbSNP | Ensembl ].		VAR_051301
Experimental info
	Sequence conflict	440	1	S → L in AAO31738. Ref.2
	Sequence conflict	1302	1	L → F in AAO31738. Ref.2
	Sequence conflict	1513	1	G → A in AAO31738. Ref.2
	Sequence conflict	1682	1	T → A in CAD39144. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 19, 2004. Version 2. Checksum: 8D33A56C33BFE888	FASTA	1,906	203,352
	10 20 30 40 50 60 MQSFRERCGF HGKQQNYQQT SQETSRLENY RQPSQAGLSC DRQRLLAKDY YNPQPYPSYE 70 80 90 100 110 120 GGAGTPSGTA AAVAADKYHR GSKALPTQQG LQGRPAFPGY GVQDSSPYPG RYAGEESLQA 130 140 150 160 170 180 WGAPQPPPPQ PQPLPAGVAK YDENLMKKTA VPPSRQYAEQ GAQVPFRTHS LHVQQPPPPQ 190 200 210 220 230 240 QPLAYPKLQR QKLQNDIASP LPFPQGTHFP QHSQSFPTSS TYSSSVQGGG QGAHSYKSCT 250 260 270 280 290 300 APTAQPHDRP LTASSSLAPG QRVQNLHAYQ SGRLSYDQQQ QQQQQQQQQQ QALQSRHHAQ 310 320 330 340 350 360 ETLHYQNLAK YQHYGQQGQG YCQPDAAVRT PEQYYQTFSP SSSHSPARSV GRSPSYSSTP 370 380 390 400 410 420 SPLMPNLENF PYSQQPLSTG AFPAGITDHS HFMPLLNPSP TDATSSVDTQ AGNCKPLQKD 430 440 450 460 470 480 KLPENLLSDL SLQSLTALTS QVENISNTVQ QLLLSKAAVP QKKGVKNLVS RTPEQHKSQH 490 500 510 520 530 540 CSPEGSGYSA EPAGTPLSEP PSSTPQSTHA EPQEADYLSG SEDPLERSFL YCNQARGSPA 550 560 570 580 590 600 RVNSNSKAKP ESVSTCSVTS PDDMSTKSDD SFQSLHGSLP LDSFSKFVAG ERDCPRLLLS 610 620 630 640 650 660 ALAQEDLASE ILGLQEAIGE KADKAWAEAP SLVKDSSKPP FSLENHSACL DSVAKSAWPR 670 680 690 700 710 720 PGEPEALPDS LQLDKGGNAK DFSPGLFEDP SVAFATPDPK KTTGPLSFGT KPTLGVPAPD 730 740 750 760 770 780 PTTAAFDCFP DTTAASSADS ANPFAWPEEN LGDACPRWGL HPGELTKGLE QGGKASDGIS 790 800 810 820 830 840 KGDTHEASAC LGFQEEDPPG EKVASLPGDF KQEEVGGVKE EAGGLLQCPE VAKADRWLED 850 860 870 880 890 900 SRHCCSTADF GDLPLLPPTS RKEDLEAEEE YSSLCELLGS PEQRPGMQDP LSPKAPLICT 910 920 930 940 950 960 KEEVEEVLDS KAGWGSPCHL SGESVILLGP TVGTESKVQS WFESSLSHMK PGEEGPDGER 970 980 990 1000 1010 1020 APGDSTTSDA SLAQKPNKPA VPEAPIAKKE PVPRGKSLRS RRVHRGLPEA EDSPCRAPVL 1030 1040 1050 1060 1070 1080 PKDLLLPESC TGPPQGQMEG AGAPGRGASE GLPRMCTRSL TALSEPRTPG PPGLTTTPAP 1090 1100 1110 1120 1130 1140 PDKLGGKQRA AFKSGKRVGK PSPKAASSPS NPAALPVASD SSPMGSKTKE TDSPSTPGKD 1150 1160 1170 1180 1190 1200 QRSMILRSRT KTQEIFHSKR RRPSEGRLPN CRATKKLLDN SHLPATFKVS SSPQKEGRVS 1210 1220 1230 1240 1250 1260 QRARVPKPGA GSKLSDRPLH ALKRKSAFMA PVPTKKRNLV LRSRSSSSSN ASGNGGDGKE 1270 1280 1290 1300 1310 1320 ERPEGSPTLF KRMSSPKKAK PTKGNGEPAT KLPPPETPDA CLKLASRAAF QGAMKTKVLP 1330 1340 1350 1360 1370 1380 PRKGRGLKLE AIVQKITSPS LKKFACKAPG ASPGNPLSPS LSDKDRGLKG AGGSPVGVEE 1390 1400 1410 1420 1430 1440 GLVNVGTGQK LPTSGADPLC RNPTNRSLKG KLMNSKKLSS TDCFKTEAFT SPEALQPGGT 1450 1460 1470 1480 1490 1500 ALAPKKRSRK GRAGAHGLSK GPLEKRPYLG PALLLTPRDR ASGTQGASED NSGGGGKKPK 1510 1520 1530 1540 1550 1560 MEELGLASQP PEGRPCQPQT RAQKQPGHTN YSSYSKRKRL TRGRAKNTTS SPCKGRAKRR 1570 1580 1590 1600 1610 1620 RQQQVLPLDP AEPEIRLKYI SSCKRLRSDS RTPAFSPFVR VEKRDAFTTI CTVVNSPGDA 1630 1640 1650 1660 1670 1680 PKPHRKPSSS ASSSSSSSSF SLDAAGASLA TLPGGSILQP RPSLPLSSTM HLGPVVSKAL 1690 1700 1710 1720 1730 1740 STSCLVCCLC QNPANFKDLG DLCGPYYPEH CLPKKKPKLK EKVRPEGTCE EASLPLERTL 1750 1760 1770 1780 1790 1800 KGPECAAAAT AGKPPRPDGP ADPAKQGPLR TSARGLSRRL QSCYCCDGRE DGGEEAAPAD 1810 1820 1830 1840 1850 1860 KGRKHECSKE APAEPGGEAQ EHWVHEACAV WTGGVYLVAG KLFGLQEAMK VAVDMMCSSC 1870 1880 1890 1900 QEAGATIGCC HKGCLHTYHY PCASDAGCIF IEENFSLKCP KHKRLP
	Isoform 2 [UniParc]. Checksum: 9C4D9E4EF917A911	FASTA	1,862	198,392
	10 20 30 40 50 60 MQSFRERCGF HGKQQNYQQT SQETSRLENY RQPSQAGLSC DRQRLLAKDY YNPQPYPSYE 70 80 90 100 110 120 GGAGTPSGTA AAVAADKYHR GSKALPTQQG LQGRPAFPGY GVQDSSPYPG RYAGEESLQA 130 140 150 160 170 180 WGAPQPPPPQ PQPLPAGVAK YDENLMKKTA VPPSRQYAEQ GAQVPFRTHS LHVQQPPPPQ 190 200 210 220 230 240 QPLAYPKLQR QKLQNDIASP LPFPQGWWAG GHSYKSCTAP TAQPHDRPLT ASSSLAPGQR 250 260 270 280 290 300 VQNLHAYQSG RLSYDQQQQQ QQQQQQQQQA LQSRHHAQET LHYQNLAKYQ HYGQQGQGYC 310 320 330 340 350 360 QPDAAVRTPE QYYQTFSPSS SHSPARSVGR SPSYSSTPSP LMPNLENFPY SQQPLSTGAF 370 380 390 400 410 420 PAGITDHSHF MPLLNPSPTD ATSSPADLTA LTSQVENISN TVQQLLLSKA AVPQKKGVKN 430 440 450 460 470 480 LVSRTPEQHK SQHCSPEGSG YSAEPAGTPL SEPPSSTPQS THAEPQEADY LSGSEDPLER 490 500 510 520 530 540 SFLYCNQARG SPARVNSNSK AKPESVSTCS VTSPDDMSTK SDDSFQSLHG SLPLDSFSKF 550 560 570 580 590 600 VAGERDCPRL LLSALAQEDL ASEILGLQEA IGEKADKAWA EAPSLVKDSS KPPFSLENHS 610 620 630 640 650 660 ACLDSVAKSA WPRPGEPEAL PDSLQLDKGG NAKDFSPGLF EDPSVAFATP DPKKTTGPLS 670 680 690 700 710 720 FGTKPTLGVP APDPTTAAFD CFPDTTAASS ADSANPFAWP EENLGDACPR WGLHPGELTK 730 740 750 760 770 780 GLEQGGKASD GISKGDTHEA SACLGFQEED PPGEKVASLP GDFKQEEVGG VKEEAGGLLQ 790 800 810 820 830 840 CPEVAKADRW LEDSRHCCST ADFGDLPLLP PTSRKEDLEA EEEYSSLCEL LGSPEQRPGM 850 860 870 880 890 900 QDPLSPKAPL ICTKEEVEEV LDSKAGWGSP CHLSGESVIL LGPTVGTESK VQSWFESSLS 910 920 930 940 950 960 HMKPGEEGPD GERAPGDSTT SDASLAQKPN KPAVPEAPIA KKEPVPRGKS LRSRRVHRGL 970 980 990 1000 1010 1020 PEAEDSPCRA PVLPKDLLLP ESCTGPPQGQ MEGAGAPGRG ASEGLPRMCT RSLTALSEPR 1030 1040 1050 1060 1070 1080 TPGPPGLTTT PAPPDKLGGK QRAAFKSGKR VGKPSPKAAS SPSNPAALPV ASDSSPMGSK 1090 1100 1110 1120 1130 1140 TKETDSPSTP GKDQRSMILR SRTKTQEIFH SKRRRPSEGR LPNCRATKKL LDNSHLPATF 1150 1160 1170 1180 1190 1200 KVSSSPQKEG RVSQRARVPK PGAGSKLSDR PLHALKRKSA FMAPVPTKKR NLVLRSRSSS 1210 1220 1230 1240 1250 1260 SSNASGNGGD GKEERPEGSP TLFKRMSSPK KAKPTKGNGE PATKLPPPET PDACLKLASR 1270 1280 1290 1300 1310 1320 AAFQGAMKTK VLPPRKGRGL KLEAIVQKIT SPSLKKFACK APGASPGNPL SPSLSDKDRG 1330 1340 1350 1360 1370 1380 LKGAGGSPVG VEEGLVNVGT GQKLPTSGAD PLCRNPTNRS LKGKLMNRAS GTQGASEDNS 1390 1400 1410 1420 1430 1440 GGGGKKPKME ELGLASQPPE GRPCQPQTRA QKQPGHTNYS SYSKRKRLTR GRAKNTTSSP 1450 1460 1470 1480 1490 1500 CKGRAKRRRQ QQVLPLDPAE PEIRLKYISS CKRLRSDSRT PAFSPFVRVE KRDAFTTICT 1510 1520 1530 1540 1550 1560 VVNSPGDAPK PHRKPSSSAS SSSSSSSFSL DAAGASLATL PGGSILQPRP SLPLSSTMHL 1570 1580 1590 1600 1610 1620 GPVVSKALST SCLVCCLCQN PANFKDLGDL CGPYYPEHCL PKKKPKLKEK VRPEGTCEEA 1630 1640 1650 1660 1670 1680 SLPLERTLKG PECAAAATAG KPPRPDGPAD PAKQGPLRTS ARGLSRRLQS CYCCDGREDG 1690 1700 1710 1720 1730 1740 GEEAAPADKG HWVHEACAVW TGGVYLVAGK LFGLQEAMKV AVDMHGGTVA LAPGDFSLPG 1750 1760 1770 1780 1790 1800 LRFASLFQGP SWCDCPVLAT STPSSWSRCV PAAKKPGPPL GAATKDASTP TTTRVPAMQV 1810 1820 1830 1840 1850 1860 RARPGTGGHW SPSKQSRGTL PGHSSPNPGP ISLFSFPPLL PQQFFYPSVC LDLCWAMPGT WK
	Isoform 3 [UniParc]. Checksum: A178ECCDECEDA431	FASTA	1,640	175,343
	10 20 30 40 50 60 MQSFRERCGF HGKQQNYQQT SQETSRLENY RQPSQAGLSC DRQRLLAKDY YNPQPYPSYE 70 80 90 100 110 120 GGAGTPSGTA AAVAADKYHR GSKALPTQQG LQGRPAFPGY GVQDSSPYPG RYAGEESLQA 130 140 150 160 170 180 WGAPQPPPPQ PQPLPAGVAK YDENLMKKTA VPPSRQYAEQ GAQVPFRTHS LHVQQPPPPQ 190 200 210 220 230 240 QPLAYPKLQR QKLQNDIASP LPFPQGTHFP QHSQSFPTSS TYSSSVQGGG QGAHSYKSCT 250 260 270 280 290 300 APTAQPHDRP LTASSSLAPG QRVQNLHAYQ SGRLSYDQQQ QQQQQQQQQQ QALQSRHHAQ 310 320 330 340 350 360 ETLHYQNLAK YQHYGQQGQG YCQPDAAVRT PEQYYQTFSP SSSHSPARSV GRSPSYSSTP 370 380 390 400 410 420 SPLMPNLENF PYSQQPLSTG AFPAGITDHS HFMPLLNPSP TDATSSVDTQ AGNCKPLQKD 430 440 450 460 470 480 KLPENLLSDL SLQSLTALTS QVENISNTVQ QLLLSKAAVP QKKGVKNLVS RTPEQHKSQH 490 500 510 520 530 540 CSPEGSGYSA EPAGTPLSEP PSSTPQSTHA EPQEADYLSG SEDPLERSFL YCNQARGSPA 550 560 570 580 590 600 RVNSNSKAKP ESVSTCSVTS PDDMSTKSDD SFQSLHGSLP LDSFSKFVAG ERDCPRLLLS 610 620 630 640 650 660 ALAQEDLASE ILGLQEAIGE KADKAWAEAP SLVKDSSKPP FSLENHSACL DSVAKSAWPR 670 680 690 700 710 720 PGEPEALPDS LQLDKGGNAK DFSPGLFEDP SVAFATPDPK KTTGPLSFGT KPTLGVPAPD 730 740 750 760 770 780 PTTAAFDCFP DTTAASSADS ANPFAWPEEN LGDACPRWGL HPGELTKGLE QGGKASDGIS 790 800 810 820 830 840 KGDTHEASAC LGFQEEDPPG EKVASLPGDF KQEEVGGVKE EAGGLLQCPE VAKADRWLED 850 860 870 880 890 900 SRHCCSTADF GDLPLLPPTS RKEDLEAEEE YSSLCELLGS PEQRPGMQDP LSPKAPLICT 910 920 930 940 950 960 KEEVEEVLDS KAGWGSPCHL SGESVILLGP TVGTESKVQS WFESSLSHMK PGEEGPDGER 970 980 990 1000 1010 1020 APGDSTTSDA SLAQKPNKPA VPEAPIAKKE PVPRGKSLRS RRVHRGLPEA EDSPCRAPVL 1030 1040 1050 1060 1070 1080 PKDLLLPESC TGPPQGQMEG AGAPGRGASE GLPRMCTRSL TALSEPRTPG PPGLTTTPAP 1090 1100 1110 1120 1130 1140 PDKLGGKQRA AFKSGKRVGK PSPKAASSPS NPAALPVASD SSPMGSKTKE TDSPSTPGKD 1150 1160 1170 1180 1190 1200 QRSMILRSRT KTQEIFHSKR RRPSEGRLPN CRATKKLLDN SHLPATFKVS SSPQKEGRVS 1210 1220 1230 1240 1250 1260 QRARVPKPGA GSKLSDRPLH ALKRKSAFMA PVPTKKRNLV LRSRSSSSSN ASGNGGDGKE 1270 1280 1290 1300 1310 1320 ERPEGSPTLF KRMSSPKKAK PTKGNGEPAT KLPPPETPDA CLKLASRAAF QGAMKTKVLP 1330 1340 1350 1360 1370 1380 PRKGRGLKLE AIVQKITSPS LKKFACKAPG ASPGNPLSPS LSDKDRGLKG AGGSPVGVEE 1390 1400 1410 1420 1430 1440 GLVNVGTGQK LPTSGADPLC RNPTNRSLKG KLMNSKKLSS TDCFKTEAFT SPEALQPGGT 1450 1460 1470 1480 1490 1500 ALAPKKRSRK GRAGAHGLSK GPLEKRPYLG PALLLTPRDR ASGTQGASED NSGGGGKKPK 1510 1520 1530 1540 1550 1560 MEELGLASQP PEGRPCQPQT RAQKQPGHTN YSSYSKRKRL TRGRAKNTTS SPCKGRAKRR 1570 1580 1590 1600 1610 1620 RQQQVLPLDP AEPEIRLKYI SSCKRLRSDS RTPAFSPLEP SLGAQNPRSG QNAPPAPADA 1630 1640 RPLCTTRDRR AYSAREQGQR
	Isoform 4 [UniParc]. Checksum: EBD2A4453EADBA58	FASTA	966	104,319
	10 20 30 40 50 60 MQSFRERCGF HGKQQNYQQT SQETSRLENY RQPSQAGLSC DRQRLLAKDY YNPQPYPSYE 70 80 90 100 110 120 GGAGTPSGTA AAVAADKYHR GSKALPTQQG LQGRPAFPGY GVQDSSPYPG RYAGEESLQA 130 140 150 160 170 180 WGAPQPPPPQ PQPLPAGVAK YDENLMKKTA VPPSRQYAEQ GAQVPFRTHS LHVQQPPPPQ 190 200 210 220 230 240 QPLAYPKLQR QKLQNDIASP LPFPQGTHFP QHSQSFPTSS TYSSSVQGGG QGAHSYKSCT 250 260 270 280 290 300 APTAQPHDRP LTASSSLAPG QRVQNLHAYQ SGRLSYDQQQ QQQQQQQQQQ QALQSRHHAQ 310 320 330 340 350 360 ETLHYQNLAK YQHYGQQGQG YCQPDAAVRT PEQYYQTFSP SSSHSPARSV GRSPSYSSTP 370 380 390 400 410 420 SPLMPNLENF PYSQQPLSTG AFPAGITDHS HFMPLLNPSP TDATSSVDTQ AGNCKPLQKD 430 440 450 460 470 480 KLPENLLSDL SLQSLTALTS QVENISNTVQ QLLLSKAAVP QKKGVKNLVS RTPEQHKSQH 490 500 510 520 530 540 CSPEGSGYSA EPAGTPLSEP PSSTPQSTHA EPQEADYLSG SEDPLERSFL YCNQARGSPA 550 560 570 580 590 600 RVNSNSKAKP ESVSTCSVTS PDDMSTKSDD SFQSLHGSLP LDSFSKFVAG ERDCPRLLLS 610 620 630 640 650 660 ALAQEDLASE ILGLQEAIGE KADKAWAEAP SLVKDSSKPP FSLENHSACL DSVAKSAWPR 670 680 690 700 710 720 PGEPEALPDS LQLDKGGNAK DFSPGLFEDP SVAFATPDPK KTTGPLSFGT KPTLGVPAPD 730 740 750 760 770 780 PTTAAFDCFP DTTAASSADS ANPFAWPEEN LGDACPRWGL HPGELTKGLE QGGKASDGIS 790 800 810 820 830 840 KGDTHEASAC LGFQEEDPPG EKVASLPGDF KQEEVGGVKE EAGGLLQCPE VAKADRWLED 850 860 870 880 890 900 SRHCCSTADF GDLPLLPPTS RKEDLEAEEE YSSLCELLGS PEQRPGMQDP LSPKAPLICT 910 920 930 940 950 960 KEEVEEVLDS KAGWGSPCHL SGESVILLGP TVGTESKVQS WFESSLYSVY ICIHIHIYNI YEDCKC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients." Seranski P., Hoff C., Radelof U., Henning S., Reinhard R., Schwartz C.E., Heiss N., Poustka A. Gene 270:69-76(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), POLYMORPHISM OF POLY-GLN REGION, INVOLVEMENT IN SMITH-MAGENIS SYNDROME.
[2]	"Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia." Toulouse A., Rochefort D., Roussel J., Joober R., Rouleau G.A. Genomics 82:162-171(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[3]	"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Muscle.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 622-1906. Tissue: Melanoma and Testis.
[6]	"Mutations in RAI1 associated with Smith-Magenis syndrome." Slager R.E., Newton T.L., Vlangos C.N., Finucane B., Elsea S.H. Nat. Genet. 33:466-468(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SMITH-MAGENIS SYNDROME.
[7]	"CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)." Hayes S., Turecki G., Brisebois K., Lopes-Cendes I., Gaspar C., Riess O., Ranum L.P., Pulst S.M., Rouleau G.A. Hum. Mol. Genet. 9:1753-1758(2000) [PubMed] [Europe PMC] [Abstract] Cited for: ROLE OF THE POLY-GLN REGION IN SPINOCEREBELLAR ATAXIA TYPE 2.
[8]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[9]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-683; THR-696; SER-880; SER-892; SER-1122; SER-1352; SER-1358; SER-1374 AND SER-1431, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-683; SER-1064; THR-1068 AND SER-1374, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[11]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-568; SER-683; SER-1352; SER-1358 AND SER-1374, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ271790 mRNA. Translation: CAC20423.1. AJ271791 Genomic DNA. Translation: CAC20424.1. AY172136 mRNA. Translation: AAO31738.1. AB058723 mRNA. Translation: BAB47449.1. Different initiation. BC021209 mRNA. Translation: AAH21209.1. AL133649 mRNA. Translation: CAB63768.1. AL834468 mRNA. Translation: CAD39127.1. AL834486 mRNA. Translation: CAD39144.1.
IPI	IPI00449923. IPI00449924. IPI00449925. IPI00449926.
PIR	T43490.
RefSeq	NP_109590.3. NM_030665.3.
UniGene	Hs.655395. Hs.727059.
3D structure databases
ProteinModelPortal	Q7Z5J4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z5J4. 3 interactions.
MINT	MINT-1477867.
STRING	9606.ENSP00000323074.
PTM databases
PhosphoSite	Q7Z5J4.
Polymorphism databases
DMDM	50400978.
Proteomic databases
PaxDb	Q7Z5J4.
PRIDE	Q7Z5J4.
Protocols and materials databases
DNASU	10743.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000353383; ENSP00000323074; ENSG00000108557.
GeneID	10743.
KEGG	hsa:10743.
UCSC	uc002grm.3. human.
Organism-specific databases
CTD	10743.
GeneCards	GC17P017525.
H-InvDB	HIX0013588.
HGNC	HGNC:9834. RAI1.
HPA	HPA023898.
MIM	182290. phenotype. 607642. gene.
neXtProt	NX_Q7Z5J4.
Orphanet	1713. 17p11.2 microduplication syndrome. 819. Smith-Magenis syndrome.
PharmGKB	PA34188.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG146768.
HOVERGEN	HBG056862.
OrthoDB	EOG4CZBF0.
PhylomeDB	Q7Z5J4.
Gene expression databases
ArrayExpress	Q7Z5J4.
Bgee	Q7Z5J4.
CleanEx	HS_RAI1.
Genevestigator	Q7Z5J4.
GermOnline	ENSG00000108557. Homo sapiens.
Family and domain databases
InterPro	IPR001965. Znf_PHD. [Graphical view]
SMART	SM00249. PHD. 1 hit. [Graphical view]
PROSITE	PS01359. ZF_PHD_1. False negative. PS50016. ZF_PHD_2. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RAI1. human.
GenomeRNAi	10743.
NextBio	40793.
SOURCE	Search...

Entry information

Entry name

RAI1_HUMAN

Accession

Primary (citable) accession number: Q7Z5J4
Secondary accession number(s): Q8N3B4 , Q8ND08, Q8WU64, Q96JK5, Q9H1C1, Q9H1C2, Q9UF69

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	July 19, 2004
Last modified:	May 1, 2013
This is version 87 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.