Q63HN8 (RN213_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
E3 ubiquitin-protein ligase RNF213
EC=6.3.2.-

Alternative name(s):
ALK lymphoma oligomerization partner on chromosome 17
Mysterin
RING finger protein 213

Gene names

Name:	RNF213
Synonyms:	ALO17, C17orf27, KIAA1554, KIAA1618, MYSTR

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	5207 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity.
Pathway	Protein modification; protein ubiquitination.
Subcellular location	Cytoplasm Ref.1.
Tissue specificity	Widely expressed (at protein level). Ref.1
Domain	The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity.
Post-translational modification	Autoubiquitinates.
Involvement in disease	Moyamoya disease 2 (MYMY2) [MIM:607151]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.1 Ref.16 A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.
Sequence similarities	Contains 1 RING-type zinc finger.
Sequence caution	The sequence AAH32220.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB13444.1 differs from that shown. Reason: Probable cloning artifact. The sequence BAB14708.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB15212.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB15280.1 differs from that shown. Reason: Erroneous termination at position 4257. Translated as Gln. The sequence BAB15330.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAH10615.1 differs from that shown. Reason: Frameshift at positions 211, 213, 221 and 266. The sequence CAH56189.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Disease mutation Proto-oncogene
Domain	Coiled coil Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Ligase
PTM	Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein autoubiquitination Inferred from direct assay Ref.1. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	ATPase activity Inferred from direct assay Ref.1. Source: UniProtKB nucleotide binding Inferred from electronic annotation. Source: InterPro ubiquitin-protein ligase activity Inferred from direct assay Ref.1. Source: UniProtKB 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: Q63HN8-3)

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.

Note: Major isoform detected in all tissues examined.

Isoform 2 (identifier: Q63HN8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     87-87: E → EGATSEVLVDAAVDLISDEWEAANAIPSKRRKQDAAPLEAASVPSADCEQ

Note: Minor isoform with restricted expression. Gene prediction based on partial EST data.

Isoform 3 (identifier: Q63HN8-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1009-1063: SQTSILQGFS...LADVKHVFRL → VNNLSSWETD...SLAKGNGAEI
     1064-5207: Missing.

Isoform 4 (identifier: Q63HN8-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-4650: Missing.
     4651-4660: QEQHQLSSRR → MTRKSAPTSG

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 5207	5207	E3 ubiquitin-protein ligase RNF213		PRO_0000415917
Regions
	Zinc finger	3997 – 4036	40	RING-type
	Coiled coil	343 – 374	32	Potential
Amino acid modifications
	Modified residue	217	1	Phosphoserine Ref.13
	Modified residue	1258	1	Phosphoserine Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.15
Natural variations
	Alternative sequence	1 – 4650	4650	Missing in isoform 4.		VSP_042416
	Alternative sequence	87	1	E → EGATSEVLVDAAVDLISDEW EAANAIPSKRRKQDAAPLEA ASVPSADCEQ in isoform 2.		VSP_042417
	Alternative sequence	1009 – 1063	55	SQTSI…HVFRL → VNNLSSWETDSGSQLCSAMT QLRAMKHPLGLSSSANSEIG KWAPSSLAKGNGAEI in isoform 3.		VSP_042418
	Alternative sequence	1064 – 5207	4144	Missing in isoform 3.		VSP_042419
	Alternative sequence	4651 – 4660	10	QEQHQLSSRR → MTRKSAPTSG in isoform 4.		VSP_042420
	Natural variant	2554	1	D → E. Ref.16		VAR_067020
	Natural variant	3891	1	M → V Rare variant detected in a sporadic case of Moyamoya disease. Ref.16		VAR_067021
	Natural variant	3915	1	E → G. Ref.16		VAR_067022
	Natural variant	3962	1	N → D Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1		VAR_067023
	Natural variant	4013	1	D → N Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1		VAR_067024
	Natural variant	4062	1	R → Q Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1		VAR_067025
	Natural variant	4399	1	A → T. Ref.16		VAR_067026
	Natural variant	4567	1	V → M Rare variant detected in a sporadic case of Moyamoya disease. Ref.16		VAR_067027
	Natural variant	4608	1	P → S Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1		VAR_067028
	Natural variant	4765	1	V → M Rare variant detected in a sporadic case of Moyamoya disease. Ref.16		VAR_067029
	Natural variant	4810	1	R → K in MYMY2; very frequent in individuals affected by Moyamoya disease; strongly increases the risk of Moyamoya disease. Ref.1 Ref.16		VAR_067030
	Natural variant	4863	1	D → N Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1		VAR_067031
	Natural variant	4950	1	E → D Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1		VAR_067032
	Natural variant	5021	1	A → V Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1		VAR_067033
	Natural variant	5160	1	D → E Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1		VAR_067034
	Natural variant	5176	1	E → G Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1		VAR_067035
Experimental info
	Sequence conflict	270	1	M → T in AAH36891. Ref.4
	Sequence conflict	270	1	M → T in AAH40341. Ref.4
	Sequence conflict	321	1	M → T in AAH36891. Ref.4
	Sequence conflict	321	1	M → T in AAH40341. Ref.4
	Sequence conflict	369	1	K → N in AAH36891. Ref.4
	Sequence conflict	1045	1	N → D in BAK53191. Ref.1
	Sequence conflict	1045	1	N → D in BAB13444. Ref.6
	Sequence conflict	1133	1	Q → K in BAB13444. Ref.6
	Sequence conflict	1195	1	V → M in BAB13444. Ref.6
	Sequence conflict	1272	1	E → Q in BAB13444. Ref.6
	Sequence conflict	1331	1	D → G in BAB13444. Ref.6
	Sequence conflict	3323	1	R → G in CAH56189. Ref.2
	Sequence conflict	4220	1	E → G in BAB15212. Ref.7
	Sequence conflict	4571	1	D → G in BAB15280. Ref.7
	Sequence conflict	4853	1	K → R in BAB15212. Ref.7
	Sequence conflict	4892	1	N → S in BAB15212. Ref.7
	Sequence conflict	5139	1	L → S in BAB15280. Ref.7
	Sequence conflict	5187	1	L → P in BAB15330. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 21, 2012. Version 3. Checksum: 9BA6847099EE6E08	FASTA	5,207	591,407
	10 20 30 40 50 60 MECPSCQHVS KEETPKFCSQ CGERLPPAAP IADSENNNST MASASEGEME CGQELKEEGG 70 80 90 100 110 120 PCLFPGSDSW QENPEEPCSK ASWTVQESKK KKRKKKKKGN KSASSELASL PLSPASPCHL 130 140 150 160 170 180 TLLSNPWPQD TALPHSQAQQ SGPTGQPSQP PGTATTPLEG DGLSAPTEVG DSPLQAQALG 190 200 210 220 230 240 EAGVATGSEA QSSPQFQDHT EGEDQDASIP SGGRGLSQEG TGPPTSAGEG HSRTEDAAQE 250 260 270 280 290 300 LLLPESKGGS SEPGTELQTT EQQAGASASM AVDAVAEPAN AVKGAGKEMK EKTQRMKQPP 310 320 330 340 350 360 ATTPPFKTHC QEAETKTKDE MAAAEEKVGK NEQGEPEDLK KPEGKNRSAA AVKNEKEQKN 370 380 390 400 410 420 QEADVQEVKA STLSPGGGVT VFFHAIISLH FPFNPDLHKV FIRGGEEFGE SKWDSNICEL 430 440 450 460 470 480 HYTRDLGHDR VLVEGIVCIS KKHLDKYIPY KYVIYNGESF EYEFIYKHQQ KKGEYVNRCL 490 500 510 520 530 540 FIKSSLLGSG DWHQYYDIVY MKPHGRLQKV MNHITDGPRK DLVKGKQIAA ALMLDSTFSI 550 560 570 580 590 600 LQTWDTINLN SFFTQFEQFC FVLQQPMIYE GQAQLWTDLQ YREKEVKRYL WQHLKKHVVP 610 620 630 640 650 660 LPDGKSTDFL PVDCPVRSKL KTGLIVLFVV EKIELLLEGS LDWLCHLLTS DASSPDEFHR 670 680 690 700 710 720 DLSHILGIPQ SWRLYLVNLC QRCMDTRTYT WLGALPVLHC CMELAPRHKD AWRQPEDTWA 730 740 750 760 770 780 ALEGLSFSPF REQMLDTSSL LQFMREKQHL LSIDEPLFRS WFSLLPLSHL VMYMENFIEH 790 800 810 820 830 840 LGRFPAHILD CLSGIYYRLP GLEQVLNTQD VQDVQNVQNI LEMLLRLLDT YRDKIPEEAL 850 860 870 880 890 900 SPSYLTVCLK LHEAICSSTK LLKFYELPAL SAEIVCRMIR LLSLVDSAGQ RDETGNNSVQ 910 920 930 940 950 960 TVFQGTLAAT KRWLREVFTK NMLTSSGASF TYVKEIEVWR RLVEIQFPAE HGWKESLLGD 970 980 990 1000 1010 1020 MEWRLTKEEP LSQITAYCNS CWDTKGLEDS VAKTFEKCII EAVSSACQSQ TSILQGFSYS 1030 1040 1050 1060 1070 1080 DLRKFGIVLS AVITKSWPRT ADNFNDILKH LLTLADVKHV FRLCGTDEKI LANVTEDAKR 1090 1100 1110 1120 1130 1140 LIAVADSVLT KVVGDLLSGT ILVGQLELII KHKNQFLDIW QLREKSLSPQ DEQCAVEEAL 1150 1160 1170 1180 1190 1200 DWRREELLLL KKEKRCVDSL LKMCGNVKHL IQVDFGVLAV RHSQDLSSKR LNDTVTVRLS 1210 1220 1230 1240 1250 1260 TSSNSQRATH YHLSSQVQEM AGKIDLLRDS HIFQLFWREA AEPLSEPKED QEAAELLSEP 1270 1280 1290 1300 1310 1320 EEESERHILE LEEVYDYLYQ PSYRKFIKLH QDLKSGEVTL AEIDVIFKDF VNKYTDLDSE 1330 1340 1350 1360 1370 1380 LKIMCTVDHQ DQRDWIKDRV EQIKEYHHLH QAVHAAKVIL QVKESLGLNG DFSVLNTLLN 1390 1400 1410 1420 1430 1440 FTDNFDDFRR ETLDQINQEL IQAKKLLQDI SEARCKGLQA LSLRKEFICW VREALGGINE 1450 1460 1470 1480 1490 1500 LKVFVDLASI SAGENDIDVD RVACFHDAVQ GYASLLFKLD PSVDFSAFMK HLKKLWKALD 1510 1520 1530 1540 1550 1560 KDQYLPRKLC DSARNLEWLK TVNESHGSVE RSSLTLATAI NQRGIYVIQA PKGGQKISPD 1570 1580 1590 1600 1610 1620 TVLHLILPES PGSHEESREY SLEEVKELLN KLMLMSGKKD RNNTEVERFS EVFCSVQRLS 1630 1640 1650 1660 1670 1680 QAFIDLHSAG NMLFRTWIAM AYCSPKQGVS LQMDFGLDLV TELKEGGDVT ELLAALCRQM 1690 1700 1710 1720 1730 1740 EHFLDSWKRF VTQKRMEHFY LNFYTAEQLV YLSTELRKQP PSDAALTMLS FIKSNCTLRD 1750 1760 1770 1780 1790 1800 VLRASVGCGS EAARYRMRRV MEELPLMLLS EFSLVDKLRI IMEQSMRCLP AFLPDCLDLE 1810 1820 1830 1840 1850 1860 TLGHCLAHLA GMGGSPVERC LPRGLQVGQP NLVVCGHSEV LPAALAVYMQ TPSQPLPTYD 1870 1880 1890 1900 1910 1920 EVLLCTPATT FEEVALLLRR CLTLGSLGHK VYSLLFADQL SYEVARQAEE LFHNLCTQQH 1930 1940 1950 1960 1970 1980 REDYQLVMVC DGDWEHCYLP SAFSQHKVFV TPQAPLEAIQ AYLAGHYRVP KQTLSAAAVF 1990 2000 2010 2020 2030 2040 NDRLCVGIVA SERAGVGKSL YVKRLHDKMK MQLNVKNVPL KTIRLIDPQV DESRVLGALL 2050 2060 2070 2080 2090 2100 PFLDAQYQKV PVLFHLDVTS SVQTGIWVFL FKLLILQYLM DINGKMWLRN PCHLYIVEIL 2110 2120 2130 2140 2150 2160 ERRTSVPSRS SSALRTRVPQ FSFLDIFPKV TCRPPKEVID MELSALRSDT EPGMDLWEFC 2170 2180 2190 2200 2210 2220 SETFQRPYQY LRRFNQNQDL DTFQYQEGSV EGTPEECLQH FLFHCGVINP SWSELRNFAR 2230 2240 2250 2260 2270 2280 FLNYQLRDCE ASLFCNPSFI GDTLRGFKKF VVTFMIFMAR DFATPSLHTS DQSPGKHMVT 2290 2300 2310 2320 2330 2340 MDGVREEDLA PFSLRKRWES EPHPYVFFND DHTTMTFIGF HLQPNINGSV DAISHLTGKV 2350 2360 2370 2380 2390 2400 IKRDVMTRDL YQGLLLQRVP FNVDFDKLPR HKKLERLCLT LGIPQATDPD KTYELTTDNM 2410 2420 2430 2440 2450 2460 LKILAIEMRF RCGIPVIIMG ETGCGKTRLI KFLSDLRRGG TNADTIKLVK VHGGTTADMI 2470 2480 2490 2500 2510 2520 YSRVREAENV AFANKDQHQL DTILFFDEAN TTEAISCIKE VLCDHMVDGQ PLAEDSGLHI 2530 2540 2550 2560 2570 2580 IAACNPYRKH SEEMICRLES AGLGYRVSME ETADRLGSIP LRQLVYRVHA LPPSLIPLVW 2590 2600 2610 2620 2630 2640 DFGQLSDVAE KLYIQQIVQR LVESISLDEN GTRVITEVLC ASQGFMRKTE DECSFVSLRD 2650 2660 2670 2680 2690 2700 VERCVKVFRW FHEHSAMLLA QLNAFLSKSS VSKNHTERDP VLWSLMLAIG VCYHASLEKK 2710 2720 2730 2740 2750 2760 DSYRKAIARF FPKPYDDSRL LLDEITRAQD LFLDGVPLRK TIAKNLALKE NVFMMVVCIE 2770 2780 2790 2800 2810 2820 LKIPLFLVGK PGSSKSLAKT IVADAMQGPA AYSDLFRSLK QVHLVSFQCS PHSTPQGIIS 2830 2840 2850 2860 2870 2880 TFRQCARFQQ GKDLQQYVSV VVLDEVGLAE DSPKMPLKTL HPLLEDGCIE DDPAPHKKVG 2890 2900 2910 2920 2930 2940 FVGISNWALD PAKMNRGIFV SRGSPNETEL IESAKGICSS DILVQDRVQG YFASFAKAYE 2950 2960 2970 2980 2990 3000 TVCKRQDKEF FGLRDYYSLI KMVFAAAKAS NRKPSPQDIA QAVLRNFSGK DDIQALDIFL 3010 3020 3030 3040 3050 3060 ANLPEAKCSE EVSPMQLIKQ NIFGPSQKVP GGEQEDAESR YLLVLTKNYV ALQILQQTFF 3070 3080 3090 3100 3110 3120 EGDQQPEIIF GSGFPKDQEY TQLCRNINRV KICMETGKMV LLLNLQNLYE SLYDALNQYY 3130 3140 3150 3160 3170 3180 VHLGGQKYVD LGLGTHRVKC RVHPNFRLIV IEEKDVVYKH FPIPLINRLE KHYLDINTVL 3190 3200 3210 3220 3230 3240 EKWQKSIVEE LCAWVEKFIN VKAHHFQKRH KYSPSDVFIG YHSDACASVV LQVIERQGPR 3250 3260 3270 3280 3290 3300 ALTEELHQKV SEEAKSILLN CATPDAVVRL SAYSLGGFAA EWLSQEYFHR QRHNSFADFL 3310 3320 3330 3340 3350 3360 QAHLHTADLE RHAIFTEITT FSRLLTSHDC EILESEVTGR APKPTLLWLQ QFDTEYSFLK 3370 3380 3390 3400 3410 3420 EVRNCLTNTA KCKILIFQTD FEDGIRSAQL IASAKYSVIN EINKIRENED RIFVYFITKL 3430 3440 3450 3460 3470 3480 SRVGRGTAYV GFHGGLWQSV HIDDLRRSTL MVSDVTRLQH VTISQLFAPG DLPELGLEHR 3490 3500 3510 3520 3530 3540 AEDGHEEAME TEASTSGEVA EVAEEAMETE SSEKVGKETS ELGGSDVSIL DTTRLLRSCV 3550 3560 3570 3580 3590 3600 QSAVGMLRDQ NESCTRNMRR VVLLLGLLNE DDACHASFLR VSKMRLSVFL KKQEESQFHP 3610 3620 3630 3640 3650 3660 LEWLAREACN QDALQEAGTF RHTLWKRVQG AVTPLLASMI SFIDRDGNLE LLTRPDTPPW 3670 3680 3690 3700 3710 3720 ARDLWMFIFS DTMLLNIPLV MNNERHKGEM AYIVVQNHMN LSENASNNVP FSWKIKDYLE 3730 3740 3750 3760 3770 3780 ELWVQAQYIT DAEGLPKKFV DIFQQTPLGR FLAQLHGEPQ QELLQCYLKD FILLTMRVST 3790 3800 3810 3820 3830 3840 EEELKFLQMA LWSCTRKLKA ASEAPEEEVS LPWVHLAYQR FRSRLQNFSR ILTIYPQVLH 3850 3860 3870 3880 3890 3900 SLMEARWNHE LAGCEMTLDA FAAMACTEML TRNTLKPSPQ AWLQLVKNLS MPLELICSDE 3910 3920 3930 3940 3950 3960 HMQGSGSLAQ AVIREVRAQW SRIFSTALFV EHVLLGTESR VPELQGLVTE HVFLLDKCLR 3970 3980 3990 4000 4010 4020 ENSDVKTHGP FEAVMRTLCE CKETASKTLS RFGIQPCSIC LGDAKDPVCL PCDHVHCLRC 4030 4040 4050 4060 4070 4080 LRAWFASEQM ICPYCLTALP DEFSPAVSQA HREAIEKHAR FRQMCNSFFV DLVSTICFKD 4090 4100 4110 4120 4130 4140 NAPPEKEVIE SLLSLLFVQK GRLRDAAQRH CEHTKSLSPF NDVVDKTPVI RSVILKLLLK 4150 4160 4170 4180 4190 4200 YSFHDVKDYI QEYLTLLKKK AFITEDKTEL YMLFINCLED SILEKTSAYS RNDELNHLEE 4210 4220 4230 4240 4250 4260 EGRFLKAYSP ASRGREPANE ASVEYLQEVA RIRLCLDRAA DFLSEPEGGP EMAKEKQCYL 4270 4280 4290 4300 4310 4320 QQVKQFCIRV ENDWHRVYLV RKLSSQRGME FVQGLSKPGR PHQWVFPKDV VKQQGLRQDH 4330 4340 4350 4360 4370 4380 PGQMDRYLVY GDEYKALRDA VAKAVLECKP LGIKTALKAC KTPQSQQSAY FLLTLFREVA 4390 4400 4410 4420 4430 4440 ILYRSHNASL HPTPEQCEAV SKFIGECKIL SPPDISRFAT SLVDNSVPLL RAGPSDSNLD 4450 4460 4470 4480 4490 4500 GTVTEMAIHA AAVLLCGQNE LLEPLKNLAF SPATMAHAFL PTMPEDLLAQ ARRWKGLERV 4510 4520 4530 4540 4550 4560 HWYTCPNGHP CSVGECGRPM EQSICIDCHA PIGGIDHKPR DGFHLVKDKA DRTQTGHVLG 4570 4580 4590 4600 4610 4620 NPQRRDVVTC DRGLPPVVFL LIRLLTHLAL LLGASQSSQA LINIIKPPVR DPKGFLQQHI 4630 4640 4650 4660 4670 4680 LKDLEQLAKM LGHSADETIG VVHLVLRRLL QEQHQLSSRR LLNFDTELST KEMRNNWEKE 4690 4700 4710 4720 4730 4740 IAAVISPELE HLDKTLPTMN NLISQDKRIS SNPVAKIIYG DPVTFLPHLP RKSVVHCSKI 4750 4760 4770 4780 4790 4800 WSCRKRITVE YLQHIVEQKN GKERVPILWH FLQKEAELRL VKFLPEILAL QRDLVKQFQN 4810 4820 4830 4840 4850 4860 VQQVEYSSIR GFLSKHSSDG LRQLLHNRIT VFLSTWNKLR RSLETNGEIN LPKDYCSTDL 4870 4880 4890 4900 4910 4920 DLDTEFEILL PRRRGLGLCA TALVSYLIRL HNEIVYAVEK LSKENNSYSV DAAEVTELHV 4930 4940 4950 4960 4970 4980 ISYEVERDLT PLILSNCQYQ VEEGRETVQE FDLEKIQRQI VSRFLQGKPR LSLKGIPTLV 4990 5000 5010 5020 5030 5040 YRHDWNYEHL FMDIKNKMAQ DSLPSSVISA ISGQLQSYSD ACEVLSVVEV TLGFLSTAGG 5050 5060 5070 5080 5090 5100 DPNMQLNVYT QDILQMGDQT IHVLKALNRC QLKHTIALWQ FLSAHKSEQL LRLHKEPFGE 5110 5120 5130 5140 5150 5160 ISSRYKADLS PENAKLLSTF LNQTGLDAFL LELHEMIILK LKNPQTQTEE RFRPQWSLRD 5170 5180 5190 5200 TLVSYMQTKE SEILPEMASQ FPEEILLASC VSVWKTAAVL KWNREMR
	Isoform 2 [UniParc]. Checksum: 91852BF88247BA13	FASTA	5,256	596,486
	10 20 30 40 50 60 MECPSCQHVS KEETPKFCSQ CGERLPPAAP IADSENNNST MASASEGEME CGQELKEEGG 70 80 90 100 110 120 PCLFPGSDSW QENPEEPCSK ASWTVQEGAT SEVLVDAAVD LISDEWEAAN AIPSKRRKQD 130 140 150 160 170 180 AAPLEAASVP SADCEQSKKK KRKKKKKGNK SASSELASLP LSPASPCHLT LLSNPWPQDT 190 200 210 220 230 240 ALPHSQAQQS GPTGQPSQPP GTATTPLEGD GLSAPTEVGD SPLQAQALGE AGVATGSEAQ 250 260 270 280 290 300 SSPQFQDHTE GEDQDASIPS GGRGLSQEGT GPPTSAGEGH SRTEDAAQEL LLPESKGGSS 310 320 330 340 350 360 EPGTELQTTE QQAGASASMA VDAVAEPANA VKGAGKEMKE KTQRMKQPPA TTPPFKTHCQ 370 380 390 400 410 420 EAETKTKDEM AAAEEKVGKN EQGEPEDLKK PEGKNRSAAA VKNEKEQKNQ EADVQEVKAS 430 440 450 460 470 480 TLSPGGGVTV FFHAIISLHF PFNPDLHKVF IRGGEEFGES KWDSNICELH YTRDLGHDRV 490 500 510 520 530 540 LVEGIVCISK KHLDKYIPYK YVIYNGESFE YEFIYKHQQK KGEYVNRCLF IKSSLLGSGD 550 560 570 580 590 600 WHQYYDIVYM KPHGRLQKVM NHITDGPRKD LVKGKQIAAA LMLDSTFSIL QTWDTINLNS 610 620 630 640 650 660 FFTQFEQFCF VLQQPMIYEG QAQLWTDLQY REKEVKRYLW QHLKKHVVPL PDGKSTDFLP 670 680 690 700 710 720 VDCPVRSKLK TGLIVLFVVE KIELLLEGSL DWLCHLLTSD ASSPDEFHRD LSHILGIPQS 730 740 750 760 770 780 WRLYLVNLCQ RCMDTRTYTW LGALPVLHCC MELAPRHKDA WRQPEDTWAA LEGLSFSPFR 790 800 810 820 830 840 EQMLDTSSLL QFMREKQHLL SIDEPLFRSW FSLLPLSHLV MYMENFIEHL GRFPAHILDC 850 860 870 880 890 900 LSGIYYRLPG LEQVLNTQDV QDVQNVQNIL EMLLRLLDTY RDKIPEEALS PSYLTVCLKL 910 920 930 940 950 960 HEAICSSTKL LKFYELPALS AEIVCRMIRL LSLVDSAGQR DETGNNSVQT VFQGTLAATK 970 980 990 1000 1010 1020 RWLREVFTKN MLTSSGASFT YVKEIEVWRR LVEIQFPAEH GWKESLLGDM EWRLTKEEPL 1030 1040 1050 1060 1070 1080 SQITAYCNSC WDTKGLEDSV AKTFEKCIIE AVSSACQSQT SILQGFSYSD LRKFGIVLSA 1090 1100 1110 1120 1130 1140 VITKSWPRTA DNFNDILKHL LTLADVKHVF RLCGTDEKIL ANVTEDAKRL IAVADSVLTK 1150 1160 1170 1180 1190 1200 VVGDLLSGTI LVGQLELIIK HKNQFLDIWQ LREKSLSPQD EQCAVEEALD WRREELLLLK 1210 1220 1230 1240 1250 1260 KEKRCVDSLL KMCGNVKHLI QVDFGVLAVR HSQDLSSKRL NDTVTVRLST SSNSQRATHY 1270 1280 1290 1300 1310 1320 HLSSQVQEMA GKIDLLRDSH IFQLFWREAA EPLSEPKEDQ EAAELLSEPE EESERHILEL 1330 1340 1350 1360 1370 1380 EEVYDYLYQP SYRKFIKLHQ DLKSGEVTLA EIDVIFKDFV NKYTDLDSEL KIMCTVDHQD 1390 1400 1410 1420 1430 1440 QRDWIKDRVE QIKEYHHLHQ AVHAAKVILQ VKESLGLNGD FSVLNTLLNF TDNFDDFRRE 1450 1460 1470 1480 1490 1500 TLDQINQELI QAKKLLQDIS EARCKGLQAL SLRKEFICWV REALGGINEL KVFVDLASIS 1510 1520 1530 1540 1550 1560 AGENDIDVDR VACFHDAVQG YASLLFKLDP SVDFSAFMKH LKKLWKALDK DQYLPRKLCD 1570 1580 1590 1600 1610 1620 SARNLEWLKT VNESHGSVER SSLTLATAIN QRGIYVIQAP KGGQKISPDT VLHLILPESP 1630 1640 1650 1660 1670 1680 GSHEESREYS LEEVKELLNK LMLMSGKKDR NNTEVERFSE VFCSVQRLSQ AFIDLHSAGN 1690 1700 1710 1720 1730 1740 MLFRTWIAMA YCSPKQGVSL QMDFGLDLVT ELKEGGDVTE LLAALCRQME HFLDSWKRFV 1750 1760 1770 1780 1790 1800 TQKRMEHFYL NFYTAEQLVY LSTELRKQPP SDAALTMLSF IKSNCTLRDV LRASVGCGSE 1810 1820 1830 1840 1850 1860 AARYRMRRVM EELPLMLLSE FSLVDKLRII MEQSMRCLPA FLPDCLDLET LGHCLAHLAG 1870 1880 1890 1900 1910 1920 MGGSPVERCL PRGLQVGQPN LVVCGHSEVL PAALAVYMQT PSQPLPTYDE VLLCTPATTF 1930 1940 1950 1960 1970 1980 EEVALLLRRC LTLGSLGHKV YSLLFADQLS YEVARQAEEL FHNLCTQQHR EDYQLVMVCD 1990 2000 2010 2020 2030 2040 GDWEHCYLPS AFSQHKVFVT PQAPLEAIQA YLAGHYRVPK QTLSAAAVFN DRLCVGIVAS 2050 2060 2070 2080 2090 2100 ERAGVGKSLY VKRLHDKMKM QLNVKNVPLK TIRLIDPQVD ESRVLGALLP FLDAQYQKVP 2110 2120 2130 2140 2150 2160 VLFHLDVTSS VQTGIWVFLF KLLILQYLMD INGKMWLRNP CHLYIVEILE RRTSVPSRSS 2170 2180 2190 2200 2210 2220 SALRTRVPQF SFLDIFPKVT CRPPKEVIDM ELSALRSDTE PGMDLWEFCS ETFQRPYQYL 2230 2240 2250 2260 2270 2280 RRFNQNQDLD TFQYQEGSVE GTPEECLQHF LFHCGVINPS WSELRNFARF LNYQLRDCEA 2290 2300 2310 2320 2330 2340 SLFCNPSFIG DTLRGFKKFV VTFMIFMARD FATPSLHTSD QSPGKHMVTM DGVREEDLAP 2350 2360 2370 2380 2390 2400 FSLRKRWESE PHPYVFFNDD HTTMTFIGFH LQPNINGSVD AISHLTGKVI KRDVMTRDLY 2410 2420 2430 2440 2450 2460 QGLLLQRVPF NVDFDKLPRH KKLERLCLTL GIPQATDPDK TYELTTDNML KILAIEMRFR 2470 2480 2490 2500 2510 2520 CGIPVIIMGE TGCGKTRLIK FLSDLRRGGT NADTIKLVKV HGGTTADMIY SRVREAENVA 2530 2540 2550 2560 2570 2580 FANKDQHQLD TILFFDEANT TEAISCIKEV LCDHMVDGQP LAEDSGLHII AACNPYRKHS 2590 2600 2610 2620 2630 2640 EEMICRLESA GLGYRVSMEE TADRLGSIPL RQLVYRVHAL PPSLIPLVWD FGQLSDVAEK 2650 2660 2670 2680 2690 2700 LYIQQIVQRL VESISLDENG TRVITEVLCA SQGFMRKTED ECSFVSLRDV ERCVKVFRWF 2710 2720 2730 2740 2750 2760 HEHSAMLLAQ LNAFLSKSSV SKNHTERDPV LWSLMLAIGV CYHASLEKKD SYRKAIARFF 2770 2780 2790 2800 2810 2820 PKPYDDSRLL LDEITRAQDL FLDGVPLRKT IAKNLALKEN VFMMVVCIEL KIPLFLVGKP 2830 2840 2850 2860 2870 2880 GSSKSLAKTI VADAMQGPAA YSDLFRSLKQ VHLVSFQCSP HSTPQGIIST FRQCARFQQG 2890 2900 2910 2920 2930 2940 KDLQQYVSVV VLDEVGLAED SPKMPLKTLH PLLEDGCIED DPAPHKKVGF VGISNWALDP 2950 2960 2970 2980 2990 3000 AKMNRGIFVS RGSPNETELI ESAKGICSSD ILVQDRVQGY FASFAKAYET VCKRQDKEFF 3010 3020 3030 3040 3050 3060 GLRDYYSLIK MVFAAAKASN RKPSPQDIAQ AVLRNFSGKD DIQALDIFLA NLPEAKCSEE 3070 3080 3090 3100 3110 3120 VSPMQLIKQN IFGPSQKVPG GEQEDAESRY LLVLTKNYVA LQILQQTFFE GDQQPEIIFG 3130 3140 3150 3160 3170 3180 SGFPKDQEYT QLCRNINRVK ICMETGKMVL LLNLQNLYES LYDALNQYYV HLGGQKYVDL 3190 3200 3210 3220 3230 3240 GLGTHRVKCR VHPNFRLIVI EEKDVVYKHF PIPLINRLEK HYLDINTVLE KWQKSIVEEL 3250 3260 3270 3280 3290 3300 CAWVEKFINV KAHHFQKRHK YSPSDVFIGY HSDACASVVL QVIERQGPRA LTEELHQKVS 3310 3320 3330 3340 3350 3360 EEAKSILLNC ATPDAVVRLS AYSLGGFAAE WLSQEYFHRQ RHNSFADFLQ AHLHTADLER 3370 3380 3390 3400 3410 3420 HAIFTEITTF SRLLTSHDCE ILESEVTGRA PKPTLLWLQQ FDTEYSFLKE VRNCLTNTAK 3430 3440 3450 3460 3470 3480 CKILIFQTDF EDGIRSAQLI ASAKYSVINE INKIRENEDR IFVYFITKLS RVGRGTAYVG 3490 3500 3510 3520 3530 3540 FHGGLWQSVH IDDLRRSTLM VSDVTRLQHV TISQLFAPGD LPELGLEHRA EDGHEEAMET 3550 3560 3570 3580 3590 3600 EASTSGEVAE VAEEAMETES SEKVGKETSE LGGSDVSILD TTRLLRSCVQ SAVGMLRDQN 3610 3620 3630 3640 3650 3660 ESCTRNMRRV VLLLGLLNED DACHASFLRV SKMRLSVFLK KQEESQFHPL EWLAREACNQ 3670 3680 3690 3700 3710 3720 DALQEAGTFR HTLWKRVQGA VTPLLASMIS FIDRDGNLEL LTRPDTPPWA RDLWMFIFSD 3730 3740 3750 3760 3770 3780 TMLLNIPLVM NNERHKGEMA YIVVQNHMNL SENASNNVPF SWKIKDYLEE LWVQAQYITD 3790 3800 3810 3820 3830 3840 AEGLPKKFVD IFQQTPLGRF LAQLHGEPQQ ELLQCYLKDF ILLTMRVSTE EELKFLQMAL 3850 3860 3870 3880 3890 3900 WSCTRKLKAA SEAPEEEVSL PWVHLAYQRF RSRLQNFSRI LTIYPQVLHS LMEARWNHEL 3910 3920 3930 3940 3950 3960 AGCEMTLDAF AAMACTEMLT RNTLKPSPQA WLQLVKNLSM PLELICSDEH MQGSGSLAQA 3970 3980 3990 4000 4010 4020 VIREVRAQWS RIFSTALFVE HVLLGTESRV PELQGLVTEH VFLLDKCLRE NSDVKTHGPF 4030 4040 4050 4060 4070 4080 EAVMRTLCEC KETASKTLSR FGIQPCSICL GDAKDPVCLP CDHVHCLRCL RAWFASEQMI 4090 4100 4110 4120 4130 4140 CPYCLTALPD EFSPAVSQAH REAIEKHARF RQMCNSFFVD LVSTICFKDN APPEKEVIES 4150 4160 4170 4180 4190 4200 LLSLLFVQKG RLRDAAQRHC EHTKSLSPFN DVVDKTPVIR SVILKLLLKY SFHDVKDYIQ 4210 4220 4230 4240 4250 4260 EYLTLLKKKA FITEDKTELY MLFINCLEDS ILEKTSAYSR NDELNHLEEE GRFLKAYSPA 4270 4280 4290 4300 4310 4320 SRGREPANEA SVEYLQEVAR IRLCLDRAAD FLSEPEGGPE MAKEKQCYLQ QVKQFCIRVE 4330 4340 4350 4360 4370 4380 NDWHRVYLVR KLSSQRGMEF VQGLSKPGRP HQWVFPKDVV KQQGLRQDHP GQMDRYLVYG 4390 4400 4410 4420 4430 4440 DEYKALRDAV AKAVLECKPL GIKTALKACK TPQSQQSAYF LLTLFREVAI LYRSHNASLH 4450 4460 4470 4480 4490 4500 PTPEQCEAVS KFIGECKILS PPDISRFATS LVDNSVPLLR AGPSDSNLDG TVTEMAIHAA 4510 4520 4530 4540 4550 4560 AVLLCGQNEL LEPLKNLAFS PATMAHAFLP TMPEDLLAQA RRWKGLERVH WYTCPNGHPC 4570 4580 4590 4600 4610 4620 SVGECGRPME QSICIDCHAP IGGIDHKPRD GFHLVKDKAD RTQTGHVLGN PQRRDVVTCD 4630 4640 4650 4660 4670 4680 RGLPPVVFLL IRLLTHLALL LGASQSSQAL INIIKPPVRD PKGFLQQHIL KDLEQLAKML 4690 4700 4710 4720 4730 4740 GHSADETIGV VHLVLRRLLQ EQHQLSSRRL LNFDTELSTK EMRNNWEKEI AAVISPELEH 4750 4760 4770 4780 4790 4800 LDKTLPTMNN LISQDKRISS NPVAKIIYGD PVTFLPHLPR KSVVHCSKIW SCRKRITVEY 4810 4820 4830 4840 4850 4860 LQHIVEQKNG KERVPILWHF LQKEAELRLV KFLPEILALQ RDLVKQFQNV QQVEYSSIRG 4870 4880 4890 4900 4910 4920 FLSKHSSDGL RQLLHNRITV FLSTWNKLRR SLETNGEINL PKDYCSTDLD LDTEFEILLP 4930 4940 4950 4960 4970 4980 RRRGLGLCAT ALVSYLIRLH NEIVYAVEKL SKENNSYSVD AAEVTELHVI SYEVERDLTP 4990 5000 5010 5020 5030 5040 LILSNCQYQV EEGRETVQEF DLEKIQRQIV SRFLQGKPRL SLKGIPTLVY RHDWNYEHLF 5050 5060 5070 5080 5090 5100 MDIKNKMAQD SLPSSVISAI SGQLQSYSDA CEVLSVVEVT LGFLSTAGGD PNMQLNVYTQ 5110 5120 5130 5140 5150 5160 DILQMGDQTI HVLKALNRCQ LKHTIALWQF LSAHKSEQLL RLHKEPFGEI SSRYKADLSP 5170 5180 5190 5200 5210 5220 ENAKLLSTFL NQTGLDAFLL ELHEMIILKL KNPQTQTEER FRPQWSLRDT LVSYMQTKES 5230 5240 5250 EILPEMASQF PEEILLASCV SVWKTAAVLK WNREMR
	Isoform 3 [UniParc]. Checksum: 986D1CDBC23CAF87	FASTA	1,063	118,436
	10 20 30 40 50 60 MECPSCQHVS KEETPKFCSQ CGERLPPAAP IADSENNNST MASASEGEME CGQELKEEGG 70 80 90 100 110 120 PCLFPGSDSW QENPEEPCSK ASWTVQESKK KKRKKKKKGN KSASSELASL PLSPASPCHL 130 140 150 160 170 180 TLLSNPWPQD TALPHSQAQQ SGPTGQPSQP PGTATTPLEG DGLSAPTEVG DSPLQAQALG 190 200 210 220 230 240 EAGVATGSEA QSSPQFQDHT EGEDQDASIP SGGRGLSQEG TGPPTSAGEG HSRTEDAAQE 250 260 270 280 290 300 LLLPESKGGS SEPGTELQTT EQQAGASASM AVDAVAEPAN AVKGAGKEMK EKTQRMKQPP 310 320 330 340 350 360 ATTPPFKTHC QEAETKTKDE MAAAEEKVGK NEQGEPEDLK KPEGKNRSAA AVKNEKEQKN 370 380 390 400 410 420 QEADVQEVKA STLSPGGGVT VFFHAIISLH FPFNPDLHKV FIRGGEEFGE SKWDSNICEL 430 440 450 460 470 480 HYTRDLGHDR VLVEGIVCIS KKHLDKYIPY KYVIYNGESF EYEFIYKHQQ KKGEYVNRCL 490 500 510 520 530 540 FIKSSLLGSG DWHQYYDIVY MKPHGRLQKV MNHITDGPRK DLVKGKQIAA ALMLDSTFSI 550 560 570 580 590 600 LQTWDTINLN SFFTQFEQFC FVLQQPMIYE GQAQLWTDLQ YREKEVKRYL WQHLKKHVVP 610 620 630 640 650 660 LPDGKSTDFL PVDCPVRSKL KTGLIVLFVV EKIELLLEGS LDWLCHLLTS DASSPDEFHR 670 680 690 700 710 720 DLSHILGIPQ SWRLYLVNLC QRCMDTRTYT WLGALPVLHC CMELAPRHKD AWRQPEDTWA 730 740 750 760 770 780 ALEGLSFSPF REQMLDTSSL LQFMREKQHL LSIDEPLFRS WFSLLPLSHL VMYMENFIEH 790 800 810 820 830 840 LGRFPAHILD CLSGIYYRLP GLEQVLNTQD VQDVQNVQNI LEMLLRLLDT YRDKIPEEAL 850 860 870 880 890 900 SPSYLTVCLK LHEAICSSTK LLKFYELPAL SAEIVCRMIR LLSLVDSAGQ RDETGNNSVQ 910 920 930 940 950 960 TVFQGTLAAT KRWLREVFTK NMLTSSGASF TYVKEIEVWR RLVEIQFPAE HGWKESLLGD 970 980 990 1000 1010 1020 MEWRLTKEEP LSQITAYCNS CWDTKGLEDS VAKTFEKCII EAVSSACQVN NLSSWETDSG 1030 1040 1050 1060 SQLCSAMTQL RAMKHPLGLS SSANSEIGKW APSSLAKGNG AEI
	Isoform 4 [UniParc]. Checksum: 0D7EC6B179FCF7F2	FASTA	557	64,260
	10 20 30 40 50 60 MTRKSAPTSG LLNFDTELST KEMRNNWEKE IAAVISPELE HLDKTLPTMN NLISQDKRIS 70 80 90 100 110 120 SNPVAKIIYG DPVTFLPHLP RKSVVHCSKI WSCRKRITVE YLQHIVEQKN GKERVPILWH 130 140 150 160 170 180 FLQKEAELRL VKFLPEILAL QRDLVKQFQN VQQVEYSSIR GFLSKHSSDG LRQLLHNRIT 190 200 210 220 230 240 VFLSTWNKLR RSLETNGEIN LPKDYCSTDL DLDTEFEILL PRRRGLGLCA TALVSYLIRL 250 260 270 280 290 300 HNEIVYAVEK LSKENNSYSV DAAEVTELHV ISYEVERDLT PLILSNCQYQ VEEGRETVQE 310 320 330 340 350 360 FDLEKIQRQI VSRFLQGKPR LSLKGIPTLV YRHDWNYEHL FMDIKNKMAQ DSLPSSVISA 370 380 390 400 410 420 ISGQLQSYSD ACEVLSVVEV TLGFLSTAGG DPNMQLNVYT QDILQMGDQT IHVLKALNRC 430 440 450 460 470 480 QLKHTIALWQ FLSAHKSEQL LRLHKEPFGE ISSRYKADLS PENAKLLSTF LNQTGLDAFL 490 500 510 520 530 540 LELHEMIILK LKNPQTQTEE RFRPQWSLRD TLVSYMQTKE SEILPEMASQ FPEEILLASC 550 VSVWKTAAVL KWNREMR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development." Liu W., Morito D., Takashima S., Mineharu Y., Kobayashi H., Hitomi T., Hashikata H., Matsuura N., Yamazaki S., Toyoda A., Kikuta K., Takagi Y., Harada K.H., Fujiyama A., Herzig R., Krischek B., Zou L., Kim J.E. , Kitakaze M., Miyamoto S., Nagata K., Hashimoto N., Koizumi A. PLoS ONE 6:E22542-E22542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CATALYTIC ACTIVITY, AUTOUBIQUITINATION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS ASP-3962; ASN-4013; GLN-4062; SER-4608; ASN-4863; ASP-4950; VAL-5021; GLU-5160 AND GLY-5176, VARIANT MYMY2 LYS-4810.
[2]	"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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3021-5207 (ISOFORMS 1/2). Tissue: Endometrium, Lymph node, Melanoma and Uterus.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORMS 3 AND 4). Tissue: Eye and Lung.
[5]	"Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor." Cools J., Wlodarska I., Somers R., Mentens N., Pedeutour F., Maes B., De Wolf-Peeters C., Pauwels P., Hagemeijer A., Marynen P. Genes Chromosomes Cancer 34:354-362(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-163 (ISOFORMS 1 AND 2/3), CHROMOSOMAL TRANSLOCATION WITH ALK.
[6]	"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 136-1509 AND 3888-5207 (ISOFORMS 1/2). Tissue: Brain.
[7]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3770-5207 (ISOFORMS 1/2). Tissue: Spleen and Thyroid.
[8]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1258, MASS SPECTROMETRY. 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-1258, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1258, MASS SPECTROMETRY. Tissue: Liver.
[11]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1258, MASS SPECTROMETRY.
[12]	"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-1258, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[13]	"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-217 AND SER-1258, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[14]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1258, MASS SPECTROMETRY.
[16]	"A genome-wide association study identifies RNF213 as the first Moyamoya disease gene." Kamada F., Aoki Y., Narisawa A., Abe Y., Komatsuzaki S., Kikuchi A., Kanno J., Niihori T., Ono M., Ishii N., Owada Y., Fujimura M., Mashimo Y., Suzuki Y., Hata A., Tsuchiya S., Tominaga T., Matsubara Y., Kure S. J. Hum. Genet. 56:34-40(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLU-2554; VAL-3891; GLY-3915; THR-4399; MET-4567 AND MET-4765, VARIANT MYMY2 LYS-4810.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB537889 mRNA. Translation: BAK53191.1. AL832920 mRNA. Translation: CAH10615.1. Frameshift. AL833201 mRNA. Translation: CAH56308.1. BX640932 mRNA. Translation: CAE45967.1. BX647946 mRNA. Translation: CAH56189.1. Different initiation. AC123764 Genomic DNA. No translation available. AC124319 Genomic DNA. No translation available. BC032220 mRNA. Translation: AAH32220.1. Different initiation. BC036891 mRNA. Translation: AAH36891.1. BC040341 mRNA. Translation: AAH40341.1. AF397204 mRNA. Translation: AAN63520.1. AF397205 mRNA. Translation: AAN63521.1. AB046774 mRNA. Translation: BAB13380.1. AB046838 mRNA. Translation: BAB13444.1. Sequence problems. AK023871 mRNA. Translation: BAB14708.1. Different initiation. AK025676 mRNA. Translation: BAB15212.1. Different initiation. AK025914 mRNA. Translation: BAB15280.1. Sequence problems. AK026038 mRNA. Translation: BAB15330.1. Different initiation. AK074030 mRNA. Translation: BAB84856.1.
IPI	IPI00217287. IPI00642126. IPI00828098.
RefSeq	NP_001243000.1. NM_001256071.1. NP_066005.2. NM_020954.3.
UniGene	Hs.195642. Hs.740662. Hs.741236.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q63HN8. 3 interactions.
PTM databases
PhosphoSite	Q63HN8.
Polymorphism databases
DMDM	116242975.
Proteomic databases
PaxDb	Q63HN8.
PRIDE	Q63HN8.
Protocols and materials databases
DNASU	57674.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000319921; ENSP00000324392; ENSG00000173821. ENST00000508628; ENSP00000425956; ENSG00000173821. ENST00000582970; ENSP00000464087; ENSG00000173821.
GeneID	57674.
KEGG	hsa:57674.
Organism-specific databases
CTD	57674.
GeneCards	GC17P078235.
H-InvDB	HIX0014240.
HGNC	HGNC:14539. RNF213.
HPA	HPA003347. HPA026790.
MIM	607151. phenotype. 613768. gene.
neXtProt	NX_Q63HN8.
Orphanet	2573. Moyamoya disease.
PharmGKB	PA134898812. PA162401681.
HUGE	Search... Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG86922.
HOGENOM	HOG000185147.
HOVERGEN	HBG073493.
InParanoid	Q9HCF4.
OMA	GMEFVQG.
Enzyme and pathway databases
UniPathway	UPA00143.
Gene expression databases
ArrayExpress	Q63HN8.
Bgee	Q63HN8.
CleanEx	HS_KIAA1618.
Genevestigator	Q9HCF4.
GermOnline	ENSG00000180843. Homo sapiens.
Family and domain databases
Gene3D	3.30.40.10. 1 hit.
InterPro	IPR003593. AAA+_ATPase. IPR018957. Znf_C3HC4_RING-type. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Pfam	PF00097. zf-C3HC4. 1 hit. [Graphical view]
SMART	SM00382. AAA. 2 hits. SM00184. RING. 1 hit. [Graphical view]
PROSITE	PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RNF213. human.
GenomeRNAi	57674.
NextBio	64478.
PMAP-CutDB	Q9HCF4.
SOURCE	Search...

Entry information

Entry name

RN213_HUMAN

Accession

Primary (citable) accession number: Q63HN8
Secondary accession number(s): C9JCP4 , D6RI12, F8WKS1, Q658P6, Q69YK7, Q6MZR1, Q8IWF4, Q8IZX1, Q8IZX2, Q8N406, Q8TEU0, Q9H6C9, Q9H6H9, Q9H6P3, Q9H8A9, Q9HCF4, Q9HCL8

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 20, 2007
Last sequence update:	March 21, 2012
Last modified:	May 1, 2013
This is version 89 of the entry and version 3 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.