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Q63HN8 (RN213_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length5207 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processUbl conjugation pathway
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
   DiseaseDisease mutation
Proto-oncogene
   DomainCoiled coil
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionLigase
   PTMPhosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein autoubiquitination

Inferred from direct assay Ref.1. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionATPase 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 52075207E3 ubiquitin-protein ligase RNF213
PRO_0000415917

Regions

Zinc finger3997 – 403640RING-type
Coiled coil343 – 37432 Potential

Amino acid modifications

Modified residue2171Phosphoserine Ref.13
Modified residue12581Phosphoserine Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.15

Natural variations

Alternative sequence1 – 46504650Missing in isoform 4.
VSP_042416
Alternative sequence871E → EGATSEVLVDAAVDLISDEW EAANAIPSKRRKQDAAPLEA ASVPSADCEQ in isoform 2.
VSP_042417
Alternative sequence1009 – 106355SQTSI…HVFRL → VNNLSSWETDSGSQLCSAMT QLRAMKHPLGLSSSANSEIG KWAPSSLAKGNGAEI in isoform 3.
VSP_042418
Alternative sequence1064 – 52074144Missing in isoform 3.
VSP_042419
Alternative sequence4651 – 466010QEQHQLSSRR → MTRKSAPTSG in isoform 4.
VSP_042420
Natural variant25541D → E. Ref.16
Corresponds to variant rs138516230 [ dbSNP | Ensembl ].
VAR_067020
Natural variant38911M → V Rare variant detected in a sporadic case of Moyamoya disease. Ref.16
VAR_067021
Natural variant39151E → G. Ref.16
Corresponds to variant rs61740658 [ dbSNP | Ensembl ].
VAR_067022
Natural variant39621N → D Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1
VAR_067023
Natural variant40131D → N Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1
VAR_067024
Natural variant40621R → Q Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1
VAR_067025
Natural variant43991A → T. Ref.16
Corresponds to variant rs148731719 [ dbSNP | Ensembl ].
VAR_067026
Natural variant45671V → M Rare variant detected in a sporadic case of Moyamoya disease. Ref.16
Corresponds to variant rs145282452 [ dbSNP | Ensembl ].
VAR_067027
Natural variant46081P → S Variant detected in cases of Moyamoya disease in Caucasian populations. Ref.1
VAR_067028
Natural variant47651V → M Rare variant detected in a sporadic case of Moyamoya disease. Ref.16
VAR_067029
Natural variant48101R → 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 variant48631D → N Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1
VAR_067031
Natural variant49501E → D Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1
VAR_067032
Natural variant50211A → V Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1
Corresponds to variant rs138130613 [ dbSNP | Ensembl ].
VAR_067033
Natural variant51601D → E Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1
VAR_067034
Natural variant51761E → G Variant detected in cases of Moyamoya disease in East Asian populations. Ref.1
VAR_067035

Experimental info

Sequence conflict2701M → T in AAH36891. Ref.4
Sequence conflict2701M → T in AAH40341. Ref.4
Sequence conflict3211M → T in AAH36891. Ref.4
Sequence conflict3211M → T in AAH40341. Ref.4
Sequence conflict3691K → N in AAH36891. Ref.4
Sequence conflict10451N → D in BAK53191. Ref.1
Sequence conflict10451N → D in BAB13444. Ref.6
Sequence conflict11331Q → K in BAB13444. Ref.6
Sequence conflict11951V → M in BAB13444. Ref.6
Sequence conflict12721E → Q in BAB13444. Ref.6
Sequence conflict13311D → G in BAB13444. Ref.6
Sequence conflict33231R → G in CAH56189. Ref.2
Sequence conflict42201E → G in BAB15212. Ref.7
Sequence conflict45711D → G in BAB15280. Ref.7
Sequence conflict48531K → R in BAB15212. Ref.7
Sequence conflict48921N → S in BAB15212. Ref.7
Sequence conflict51391L → S in BAB15280. Ref.7
Sequence conflict51871L → P in BAB15330. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 21, 2012. Version 3.
Checksum: 9BA6847099EE6E08

FASTA5,207591,407
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 91852BF88247BA13
Show »

FASTA5,256596,486
Isoform 3 [UniParc].

Checksum: 986D1CDBC23CAF87
Show »

FASTA1,063118,436
Isoform 4 [UniParc].

Checksum: 0D7EC6B179FCF7F2
Show »

FASTA55764,260

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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, 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-1258, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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.

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.
RefSeqNP_001243000.1. NM_001256071.1.
NP_066005.2. NM_020954.3.
XP_005257602.1. XM_005257545.1.
XP_005257603.1. XM_005257546.1.
UniGeneHs.195642.
Hs.740662.
Hs.745415.

3D structure databases

ProteinModelPortalQ63HN8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121705. 8 interactions.
IntActQ63HN8. 3 interactions.

PTM databases

PhosphoSiteQ63HN8.

Polymorphism databases

DMDM116242975.

Proteomic databases

PaxDbQ63HN8.
PRIDEQ63HN8.

Protocols and materials databases

DNASU57674.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000319921; ENSP00000324392; ENSG00000173821. [Q63HN8-5]
ENST00000508628; ENSP00000425956; ENSG00000173821. [Q63HN8-4]
ENST00000582970; ENSP00000464087; ENSG00000173821. [Q63HN8-3]
GeneID57674.
KEGGhsa:57674.
UCSCuc002jyf.4. human. [Q63HN8-5]
uc021uen.2. human. [Q63HN8-3]

Organism-specific databases

CTD57674.
GeneCardsGC17P078235.
H-InvDBHIX0014240.
HGNCHGNC:14539. RNF213.
HPAHPA003347.
HPA026790.
MIM607151. phenotype.
613768. gene.
neXtProtNX_Q63HN8.
Orphanet2573. Moyamoya disease.
PharmGKBPA134898812.
PA162401681.
HUGESearch...
Search...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86922.
HOGENOMHOG000185147.
HOVERGENHBG073493.
InParanoidQ9HCF4.
OMAFLNQIGL.
TreeFamTF343131.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ63HN8.
BgeeQ63HN8.
CleanExHS_KIAA1618.
GenevestigatorQ9HCF4.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
SM00184. RING. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 3 hits.
PROSITEPS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRNF213. human.
GeneWikiRNF213.
GenomeRNAi57674.
NextBio64478.
PMAP-CutDBQ9HCF4.
PROQ63HN8.
SOURCESearch...

Entry information

Entry nameRN213_HUMAN
AccessionPrimary (citable) accession number: Q63HN8
Secondary accession number(s): C9JCP4 expand/collapse secondary AC list , 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: March 19, 2014
This is version 98 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM