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Protein

E3 ubiquitin-protein ligase RNF213

Gene

RNF213

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

E3 ubiquitin-protein ligase involved in angiogenesis (PubMed:21799892, PubMed:26278786, PubMed:26766444, PubMed:26126547). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity (PubMed:24658080, PubMed:26126547).5 Publications

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri3997 – 4036RING-typePROSITE-ProRule annotationAdd BLAST40

GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • ligase activity Source: UniProtKB-KW
  • ubiquitin-protein transferase activity Source: UniProtKB
  • zinc ion binding Source: InterPro

GO - Biological processi

  • angiogenesis Source: UniProtKB
  • negative regulation of non-canonical Wnt signaling pathway Source: UniProtKB
  • protein autoubiquitination Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • protein polyubiquitination Source: Reactome
  • protein ubiquitination Source: UniProtKB
  • sprouting angiogenesis Source: UniProtKB
  • ubiquitin-dependent protein catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Ligase

Keywords - Biological processi

Angiogenesis, Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
E3 ubiquitin-protein ligase RNF213Curated (EC:3.6.4.-1 Publication, EC:6.3.2.-1 Publication)
Alternative name(s):
ALK lymphoma oligomerization partner on chromosome 171 Publication
Mysterin1 Publication
RING finger protein 213Curated
Gene namesi
Name:RNF213Imported
Synonyms:ALO171 Publication, C17orf27Imported, KIAA15541 Publication, KIAA16181 Publication, MYSTR1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:14539. RNF213.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • membrane Source: UniProtKB
  • nucleolus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Moyamoya disease 2 (MYMY2)8 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607151
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0670244013D → N in MYMY2; variant detected in cases of Moyamoya disease in Caucasian and Asian populations. 2 Publications1
Natural variantiVAR_0670264399A → T in MYMY2. 2 PublicationsCorresponds to variant rs148731719dbSNPEnsembl.1
Natural variantiVAR_0670304810R → K in MYMY2; very frequent in individuals affected by Moyamoya disease; strongly increases the risk of Moyamoya disease; induces genomic instability; shows decreased ATPase activity, possibly caused by stabilization of the oligomeric state. 7 Publications1

A chromosomal aberration involving RNF213 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2426K → A: Decreased ATPase activity. 1 Publication1
Mutagenesisi2488E → A: Decreased ATPase activity. 1 Publication1
Mutagenesisi2488E → Q: Loss of ATPase hydrolysis. Stabilization of the oligomeric state. Inhibited angiogenesis. 1 Publication1
Mutagenesisi2775K → A: Decreased ATPase activity. 1 Publication1
Mutagenesisi2845E → A: Decreased ATPase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi57674.
MalaCardsiRNF213.
MIMi607151. phenotype.
OpenTargetsiENSG00000173821.
Orphaneti2573. Moyamoya disease.
PharmGKBiPA134898812.
PA162401681.

Polymorphism and mutation databases

BioMutaiRNF213.
DMDMi380865458.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004159171 – 5207E3 ubiquitin-protein ligase RNF213Add BLAST5207

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei208PhosphoserineCombined sources1
Modified residuei217PhosphoserineCombined sources1
Cross-linki1151Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1258PhosphoserineCombined sources1
Modified residuei2273PhosphoserineCombined sources1

Post-translational modificationi

Autoubiquitinated.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ63HN8.
MaxQBiQ63HN8.
PaxDbiQ63HN8.
PeptideAtlasiQ63HN8.
PRIDEiQ63HN8.

PTM databases

iPTMnetiQ63HN8.
PhosphoSitePlusiQ63HN8.

Miscellaneous databases

PMAP-CutDBQ9HCF4.

Expressioni

Tissue specificityi

Widely expressed (at protein level).1 Publication

Inductioni

Down-regulated by let-7c miRNA, which binds to the 3'-UTR transcript of RNF213 (PubMed:26070522). Induced by pro-inflammatory cytokines (PubMed:26278786).2 Publications
(Microbial infection) Is up-regulated in macrophages infected by M.tuberculosis.1 Publication

Gene expression databases

BgeeiENSG00000173821.
CleanExiHS_KIAA1618.
ExpressionAtlasiQ63HN8. baseline and differential.
GenevisibleiQ63HN8. HS.

Organism-specific databases

HPAiHPA003347.
HPA026790.

Interactioni

Subunit structurei

Homooligomer; probably forms homohexamers.2 Publications
(Microbial infection) Interacts with M.tuberculosis protein Rv3655c, which impairs caspase-8 activation and suppresses macrophage apoptosis by blocking the extrinsic pathway.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083793EBI-10248548,EBI-618309
KRT40Q6A1623EBI-10248548,EBI-10171697
RELQ048643EBI-10248548,EBI-307352
TRIM23P364063EBI-10248548,EBI-740098
TRIM27P143733EBI-10248548,EBI-719493
TRIP6Q156543EBI-10248548,EBI-742327
UBXN11Q5T1243EBI-10248548,EBI-746004

Protein-protein interaction databases

BioGridi121705. 31 interactors.
IntActiQ63HN8. 16 interactors.
STRINGi9606.ENSP00000324392.

Structurei

3D structure databases

ProteinModelPortaliQ63HN8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili343 – 374Sequence analysisAdd BLAST32

Domaini

The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity.1 Publication

Sequence similaritiesi

Belongs to the AAA ATPase family.Curated
Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri3997 – 4036RING-typePROSITE-ProRule annotationAdd BLAST40

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IE7S. Eukaryota.
ENOG410Z1EV. LUCA.
GeneTreeiENSGT00630000089884.
HOGENOMiHOG000185147.
HOVERGENiHBG073493.
InParanoidiQ63HN8.
TreeFamiTF343131.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
3.40.50.300. 3 hits.
InterProiIPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR031248. RNF213.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PANTHERiPTHR22605:SF5. PTHR22605:SF5. 1 hit.
PfamiPF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
SM00184. RING. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.
PROSITEiPS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q63HN8-3) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MECPSCQHVS KEETPKFCSQ CGERLPPAAP IADSENNNST MASASEGEME
60 70 80 90 100
CGQELKEEGG PCLFPGSDSW QENPEEPCSK ASWTVQESKK KKRKKKKKGN
110 120 130 140 150
KSASSELASL PLSPASPCHL TLLSNPWPQD TALPHSQAQQ SGPTGQPSQP
160 170 180 190 200
PGTATTPLEG DGLSAPTEVG DSPLQAQALG EAGVATGSEA QSSPQFQDHT
210 220 230 240 250
EGEDQDASIP SGGRGLSQEG TGPPTSAGEG HSRTEDAAQE LLLPESKGGS
260 270 280 290 300
SEPGTELQTT EQQAGASASM AVDAVAEPAN AVKGAGKEMK EKTQRMKQPP
310 320 330 340 350
ATTPPFKTHC QEAETKTKDE MAAAEEKVGK NEQGEPEDLK KPEGKNRSAA
360 370 380 390 400
AVKNEKEQKN QEADVQEVKA STLSPGGGVT VFFHAIISLH FPFNPDLHKV
410 420 430 440 450
FIRGGEEFGE SKWDSNICEL HYTRDLGHDR VLVEGIVCIS KKHLDKYIPY
460 470 480 490 500
KYVIYNGESF EYEFIYKHQQ KKGEYVNRCL FIKSSLLGSG DWHQYYDIVY
510 520 530 540 550
MKPHGRLQKV MNHITDGPRK DLVKGKQIAA ALMLDSTFSI LQTWDTINLN
560 570 580 590 600
SFFTQFEQFC FVLQQPMIYE GQAQLWTDLQ YREKEVKRYL WQHLKKHVVP
610 620 630 640 650
LPDGKSTDFL PVDCPVRSKL KTGLIVLFVV EKIELLLEGS LDWLCHLLTS
660 670 680 690 700
DASSPDEFHR DLSHILGIPQ SWRLYLVNLC QRCMDTRTYT WLGALPVLHC
710 720 730 740 750
CMELAPRHKD AWRQPEDTWA ALEGLSFSPF REQMLDTSSL LQFMREKQHL
760 770 780 790 800
LSIDEPLFRS WFSLLPLSHL VMYMENFIEH LGRFPAHILD CLSGIYYRLP
810 820 830 840 850
GLEQVLNTQD VQDVQNVQNI LEMLLRLLDT YRDKIPEEAL SPSYLTVCLK
860 870 880 890 900
LHEAICSSTK LLKFYELPAL SAEIVCRMIR LLSLVDSAGQ RDETGNNSVQ
910 920 930 940 950
TVFQGTLAAT KRWLREVFTK NMLTSSGASF TYVKEIEVWR RLVEIQFPAE
960 970 980 990 1000
HGWKESLLGD MEWRLTKEEP LSQITAYCNS CWDTKGLEDS VAKTFEKCII
1010 1020 1030 1040 1050
EAVSSACQSQ TSILQGFSYS DLRKFGIVLS AVITKSWPRT ADNFNDILKH
1060 1070 1080 1090 1100
LLTLADVKHV FRLCGTDEKI LANVTEDAKR LIAVADSVLT KVVGDLLSGT
1110 1120 1130 1140 1150
ILVGQLELII KHKNQFLDIW QLREKSLSPQ DEQCAVEEAL DWRREELLLL
1160 1170 1180 1190 1200
KKEKRCVDSL LKMCGNVKHL IQVDFGVLAV RHSQDLSSKR LNDTVTVRLS
1210 1220 1230 1240 1250
TSSNSQRATH YHLSSQVQEM AGKIDLLRDS HIFQLFWREA AEPLSEPKED
1260 1270 1280 1290 1300
QEAAELLSEP EEESERHILE LEEVYDYLYQ PSYRKFIKLH QDLKSGEVTL
1310 1320 1330 1340 1350
AEIDVIFKDF VNKYTDLDSE LKIMCTVDHQ DQRDWIKDRV EQIKEYHHLH
1360 1370 1380 1390 1400
QAVHAAKVIL QVKESLGLNG DFSVLNTLLN FTDNFDDFRR ETLDQINQEL
1410 1420 1430 1440 1450
IQAKKLLQDI SEARCKGLQA LSLRKEFICW VREALGGINE LKVFVDLASI
1460 1470 1480 1490 1500
SAGENDIDVD RVACFHDAVQ GYASLLFKLD PSVDFSAFMK HLKKLWKALD
1510 1520 1530 1540 1550
KDQYLPRKLC DSARNLEWLK TVNESHGSVE RSSLTLATAI NQRGIYVIQA
1560 1570 1580 1590 1600
PKGGQKISPD TVLHLILPES PGSHEESREY SLEEVKELLN KLMLMSGKKD
1610 1620 1630 1640 1650
RNNTEVERFS EVFCSVQRLS QAFIDLHSAG NMLFRTWIAM AYCSPKQGVS
1660 1670 1680 1690 1700
LQMDFGLDLV TELKEGGDVT ELLAALCRQM EHFLDSWKRF VTQKRMEHFY
1710 1720 1730 1740 1750
LNFYTAEQLV YLSTELRKQP PSDAALTMLS FIKSNCTLRD VLRASVGCGS
1760 1770 1780 1790 1800
EAARYRMRRV MEELPLMLLS EFSLVDKLRI IMEQSMRCLP AFLPDCLDLE
1810 1820 1830 1840 1850
TLGHCLAHLA GMGGSPVERC LPRGLQVGQP NLVVCGHSEV LPAALAVYMQ
1860 1870 1880 1890 1900
TPSQPLPTYD EVLLCTPATT FEEVALLLRR CLTLGSLGHK VYSLLFADQL
1910 1920 1930 1940 1950
SYEVARQAEE LFHNLCTQQH REDYQLVMVC DGDWEHCYLP SAFSQHKVFV
1960 1970 1980 1990 2000
TPQAPLEAIQ AYLAGHYRVP KQTLSAAAVF NDRLCVGIVA SERAGVGKSL
2010 2020 2030 2040 2050
YVKRLHDKMK MQLNVKNVPL KTIRLIDPQV DESRVLGALL PFLDAQYQKV
2060 2070 2080 2090 2100
PVLFHLDVTS SVQTGIWVFL FKLLILQYLM DINGKMWLRN PCHLYIVEIL
2110 2120 2130 2140 2150
ERRTSVPSRS SSALRTRVPQ FSFLDIFPKV TCRPPKEVID MELSALRSDT
2160 2170 2180 2190 2200
EPGMDLWEFC SETFQRPYQY LRRFNQNQDL DTFQYQEGSV EGTPEECLQH
2210 2220 2230 2240 2250
FLFHCGVINP SWSELRNFAR FLNYQLRDCE ASLFCNPSFI GDTLRGFKKF
2260 2270 2280 2290 2300
VVTFMIFMAR DFATPSLHTS DQSPGKHMVT MDGVREEDLA PFSLRKRWES
2310 2320 2330 2340 2350
EPHPYVFFND DHTTMTFIGF HLQPNINGSV DAISHLTGKV IKRDVMTRDL
2360 2370 2380 2390 2400
YQGLLLQRVP FNVDFDKLPR HKKLERLCLT LGIPQATDPD KTYELTTDNM
2410 2420 2430 2440 2450
LKILAIEMRF RCGIPVIIMG ETGCGKTRLI KFLSDLRRGG TNADTIKLVK
2460 2470 2480 2490 2500
VHGGTTADMI YSRVREAENV AFANKDQHQL DTILFFDEAN TTEAISCIKE
2510 2520 2530 2540 2550
VLCDHMVDGQ PLAEDSGLHI IAACNPYRKH SEEMICRLES AGLGYRVSME
2560 2570 2580 2590 2600
ETADRLGSIP LRQLVYRVHA LPPSLIPLVW DFGQLSDVAE KLYIQQIVQR
2610 2620 2630 2640 2650
LVESISLDEN GTRVITEVLC ASQGFMRKTE DECSFVSLRD VERCVKVFRW
2660 2670 2680 2690 2700
FHEHSAMLLA QLNAFLSKSS VSKNHTERDP VLWSLMLAIG VCYHASLEKK
2710 2720 2730 2740 2750
DSYRKAIARF FPKPYDDSRL LLDEITRAQD LFLDGVPLRK TIAKNLALKE
2760 2770 2780 2790 2800
NVFMMVVCIE LKIPLFLVGK PGSSKSLAKT IVADAMQGPA AYSDLFRSLK
2810 2820 2830 2840 2850
QVHLVSFQCS PHSTPQGIIS TFRQCARFQQ GKDLQQYVSV VVLDEVGLAE
2860 2870 2880 2890 2900
DSPKMPLKTL HPLLEDGCIE DDPAPHKKVG FVGISNWALD PAKMNRGIFV
2910 2920 2930 2940 2950
SRGSPNETEL IESAKGICSS DILVQDRVQG YFASFAKAYE TVCKRQDKEF
2960 2970 2980 2990 3000
FGLRDYYSLI KMVFAAAKAS NRKPSPQDIA QAVLRNFSGK DDIQALDIFL
3010 3020 3030 3040 3050
ANLPEAKCSE EVSPMQLIKQ NIFGPSQKVP GGEQEDAESR YLLVLTKNYV
3060 3070 3080 3090 3100
ALQILQQTFF EGDQQPEIIF GSGFPKDQEY TQLCRNINRV KICMETGKMV
3110 3120 3130 3140 3150
LLLNLQNLYE SLYDALNQYY VHLGGQKYVD LGLGTHRVKC RVHPNFRLIV
3160 3170 3180 3190 3200
IEEKDVVYKH FPIPLINRLE KHYLDINTVL EKWQKSIVEE LCAWVEKFIN
3210 3220 3230 3240 3250
VKAHHFQKRH KYSPSDVFIG YHSDACASVV LQVIERQGPR ALTEELHQKV
3260 3270 3280 3290 3300
SEEAKSILLN CATPDAVVRL SAYSLGGFAA EWLSQEYFHR QRHNSFADFL
3310 3320 3330 3340 3350
QAHLHTADLE RHAIFTEITT FSRLLTSHDC EILESEVTGR APKPTLLWLQ
3360 3370 3380 3390 3400
QFDTEYSFLK EVRNCLTNTA KCKILIFQTD FEDGIRSAQL IASAKYSVIN
3410 3420 3430 3440 3450
EINKIRENED RIFVYFITKL SRVGRGTAYV GFHGGLWQSV HIDDLRRSTL
3460 3470 3480 3490 3500
MVSDVTRLQH VTISQLFAPG DLPELGLEHR AEDGHEEAME TEASTSGEVA
3510 3520 3530 3540 3550
EVAEEAMETE SSEKVGKETS ELGGSDVSIL DTTRLLRSCV QSAVGMLRDQ
3560 3570 3580 3590 3600
NESCTRNMRR VVLLLGLLNE DDACHASFLR VSKMRLSVFL KKQEESQFHP
3610 3620 3630 3640 3650
LEWLAREACN QDALQEAGTF RHTLWKRVQG AVTPLLASMI SFIDRDGNLE
3660 3670 3680 3690 3700
LLTRPDTPPW ARDLWMFIFS DTMLLNIPLV MNNERHKGEM AYIVVQNHMN
3710 3720 3730 3740 3750
LSENASNNVP FSWKIKDYLE ELWVQAQYIT DAEGLPKKFV DIFQQTPLGR
3760 3770 3780 3790 3800
FLAQLHGEPQ QELLQCYLKD FILLTMRVST EEELKFLQMA LWSCTRKLKA
3810 3820 3830 3840 3850
ASEAPEEEVS LPWVHLAYQR FRSRLQNFSR ILTIYPQVLH SLMEARWNHE
3860 3870 3880 3890 3900
LAGCEMTLDA FAAMACTEML TRNTLKPSPQ AWLQLVKNLS MPLELICSDE
3910 3920 3930 3940 3950
HMQGSGSLAQ AVIREVRAQW SRIFSTALFV EHVLLGTESR VPELQGLVTE
3960 3970 3980 3990 4000
HVFLLDKCLR ENSDVKTHGP FEAVMRTLCE CKETASKTLS RFGIQPCSIC
4010 4020 4030 4040 4050
LGDAKDPVCL PCDHVHCLRC LRAWFASEQM ICPYCLTALP DEFSPAVSQA
4060 4070 4080 4090 4100
HREAIEKHAR FRQMCNSFFV DLVSTICFKD NAPPEKEVIE SLLSLLFVQK
4110 4120 4130 4140 4150
GRLRDAAQRH CEHTKSLSPF NDVVDKTPVI RSVILKLLLK YSFHDVKDYI
4160 4170 4180 4190 4200
QEYLTLLKKK AFITEDKTEL YMLFINCLED SILEKTSAYS RNDELNHLEE
4210 4220 4230 4240 4250
EGRFLKAYSP ASRGREPANE ASVEYLQEVA RIRLCLDRAA DFLSEPEGGP
4260 4270 4280 4290 4300
EMAKEKQCYL QQVKQFCIRV ENDWHRVYLV RKLSSQRGME FVQGLSKPGR
4310 4320 4330 4340 4350
PHQWVFPKDV VKQQGLRQDH PGQMDRYLVY GDEYKALRDA VAKAVLECKP
4360 4370 4380 4390 4400
LGIKTALKAC KTPQSQQSAY FLLTLFREVA ILYRSHNASL HPTPEQCEAV
4410 4420 4430 4440 4450
SKFIGECKIL SPPDISRFAT SLVDNSVPLL RAGPSDSNLD GTVTEMAIHA
4460 4470 4480 4490 4500
AAVLLCGQNE LLEPLKNLAF SPATMAHAFL PTMPEDLLAQ ARRWKGLERV
4510 4520 4530 4540 4550
HWYTCPNGHP CSVGECGRPM EQSICIDCHA PIGGIDHKPR DGFHLVKDKA
4560 4570 4580 4590 4600
DRTQTGHVLG NPQRRDVVTC DRGLPPVVFL LIRLLTHLAL LLGASQSSQA
4610 4620 4630 4640 4650
LINIIKPPVR DPKGFLQQHI LKDLEQLAKM LGHSADETIG VVHLVLRRLL
4660 4670 4680 4690 4700
QEQHQLSSRR LLNFDTELST KEMRNNWEKE IAAVISPELE HLDKTLPTMN
4710 4720 4730 4740 4750
NLISQDKRIS SNPVAKIIYG DPVTFLPHLP RKSVVHCSKI WSCRKRITVE
4760 4770 4780 4790 4800
YLQHIVEQKN GKERVPILWH FLQKEAELRL VKFLPEILAL QRDLVKQFQN
4810 4820 4830 4840 4850
VQQVEYSSIR GFLSKHSSDG LRQLLHNRIT VFLSTWNKLR RSLETNGEIN
4860 4870 4880 4890 4900
LPKDYCSTDL DLDTEFEILL PRRRGLGLCA TALVSYLIRL HNEIVYAVEK
4910 4920 4930 4940 4950
LSKENNSYSV DAAEVTELHV ISYEVERDLT PLILSNCQYQ VEEGRETVQE
4960 4970 4980 4990 5000
FDLEKIQRQI VSRFLQGKPR LSLKGIPTLV YRHDWNYEHL FMDIKNKMAQ
5010 5020 5030 5040 5050
DSLPSSVISA ISGQLQSYSD ACEVLSVVEV TLGFLSTAGG DPNMQLNVYT
5060 5070 5080 5090 5100
QDILQMGDQT IHVLKALNRC QLKHTIALWQ FLSAHKSEQL LRLHKEPFGE
5110 5120 5130 5140 5150
ISSRYKADLS PENAKLLSTF LNQTGLDAFL LELHEMIILK LKNPQTQTEE
5160 5170 5180 5190 5200
RFRPQWSLRD TLVSYMQTKE SEILPEMASQ FPEEILLASC VSVWKTAAVL

KWNREMR
Note: Major isoform detected in all tissues examined.
Length:5,207
Mass (Da):591,407
Last modified:March 21, 2012 - v3
Checksum:i9BA6847099EE6E08
GO
Isoform 2 (identifier: Q63HN8-4) [UniParc]FASTAAdd to basket

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.
Show »
Length:5,256
Mass (Da):596,486
Checksum:i91852BF88247BA13
GO
Isoform 3 (identifier: Q63HN8-5) [UniParc]FASTAAdd to basket

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

Show »
Length:1,063
Mass (Da):118,436
Checksum:i986D1CDBC23CAF87
GO
Isoform 4 (identifier: Q63HN8-6) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:557
Mass (Da):64,260
Checksum:i0D7EC6B179FCF7F2
GO

Sequence cautioni

The sequence AAH32220 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB13444 differs from that shown. Probable cloning artifact.Curated
The sequence BAB14708 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15212 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15280 differs from that shown. Reason: Erroneous termination at position 4257. Translated as Gln.Curated
The sequence BAB15330 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH10615 differs from that shown. Reason: Frameshift at positions 211, 213, 221 and 266.Curated
The sequence CAH56189 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti270M → T in AAH36891 (PubMed:15489334).Curated1
Sequence conflicti270M → T in AAH40341 (PubMed:15489334).Curated1
Sequence conflicti321M → T in AAH36891 (PubMed:15489334).Curated1
Sequence conflicti321M → T in AAH40341 (PubMed:15489334).Curated1
Sequence conflicti369K → N in AAH36891 (PubMed:15489334).Curated1
Sequence conflicti1045N → D in BAK53191 (PubMed:21799892).Curated1
Sequence conflicti1045N → D in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1133Q → K in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1195V → M in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1272E → Q in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1331D → G in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti3323R → G in CAH56189 (PubMed:17974005).Curated1
Sequence conflicti4220E → G in BAB15212 (PubMed:14702039).Curated1
Sequence conflicti4571D → G in BAB15280 (PubMed:14702039).Curated1
Sequence conflicti4853K → R in BAB15212 (PubMed:14702039).Curated1
Sequence conflicti4892N → S in BAB15212 (PubMed:14702039).Curated1
Sequence conflicti5139L → S in BAB15280 (PubMed:14702039).Curated1
Sequence conflicti5187L → P in BAB15330 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075635529Missing Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756361622A → V Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670202554D → E.1 PublicationCorresponds to variant rs138516230dbSNPEnsembl.1
Natural variantiVAR_0670213891M → V Rare variant detected in a sporadic case of Moyamoya disease. 1 Publication1
Natural variantiVAR_0670223915E → G.1 PublicationCorresponds to variant rs61740658dbSNPEnsembl.1
Natural variantiVAR_0756373922R → Q Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756383933V → M Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670233962N → D Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication1
Natural variantiVAR_0756393997C → Y Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756404007P → R Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670244013D → N in MYMY2; variant detected in cases of Moyamoya disease in Caucasian and Asian populations. 2 Publications1
Natural variantiVAR_0756414019R → C Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0670254062R → Q Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication1
Natural variantiVAR_0756424076I → V Rare variant detected in a sporadic case of Moyamoya disease in Asian population. 1 Publication1
Natural variantiVAR_0756434115Missing Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756444118S → F Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756454131R → C Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0756464185K → T Found in a heterozygous family with heterogeneous intracerebral vasculopathy. 1 Publication1
Natural variantiVAR_0756474237D → E Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756484367Q → L Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670264399A → T in MYMY2. 2 PublicationsCorresponds to variant rs148731719dbSNPEnsembl.1
Natural variantiVAR_0670274567V → M Rare variant detected in a sporadic case of Moyamoya disease. 1 PublicationCorresponds to variant rs145282452dbSNPEnsembl.1
Natural variantiVAR_0756494586T → P Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670284608P → S Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication1
Natural variantiVAR_0756504631L → V Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0756514732K → T Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0670294765V → M Rare variant detected in a sporadic case of Moyamoya disease. 1 Publication1
Natural variantiVAR_0670304810R → K in MYMY2; very frequent in individuals affected by Moyamoya disease; strongly increases the risk of Moyamoya disease; induces genomic instability; shows decreased ATPase activity, possibly caused by stabilization of the oligomeric state. 7 Publications1
Natural variantiVAR_0670314863D → N Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication1
Natural variantiVAR_0670324950E → D Variant detected in cases of Moyamoya disease in East Asian populations and rare variant detected in a sporadic case of Moyamoya disease. 2 Publications1
Natural variantiVAR_0670335021A → V Variant detected in cases of Moyamoya disease in East Asian populations and rare variant detected in a sporadic case of Moyamoya disease. 2 PublicationsCorresponds to variant rs138130613dbSNPEnsembl.1
Natural variantiVAR_0756525136M → I Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670345160D → E Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication1
Natural variantiVAR_0756535163V → I Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0670355176E → G Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0424161 – 4650Missing in isoform 4. 1 PublicationAdd BLAST4650
Alternative sequenceiVSP_04241787E → EGATSEVLVDAAVDLISDEW EAANAIPSKRRKQDAAPLEA ASVPSADCEQ in isoform 2. Curated1
Alternative sequenceiVSP_0424181009 – 1063SQTSI…HVFRL → VNNLSSWETDSGSQLCSAMT QLRAMKHPLGLSSSANSEIG KWAPSSLAKGNGAEI in isoform 3. 2 PublicationsAdd BLAST55
Alternative sequenceiVSP_0424191064 – 5207Missing in isoform 3. 2 PublicationsAdd BLAST4144
Alternative sequenceiVSP_0424204651 – 4660QEQHQLSSRR → MTRKSAPTSG in isoform 4. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11772.1. [Q63HN8-5]
CCDS58606.1. [Q63HN8-3]
RefSeqiNP_001243000.2. NM_001256071.2.
NP_066005.2. NM_020954.3. [Q63HN8-5]
UniGeneiHs.195642.
Hs.740662.
Hs.745415.

Genome annotation databases

EnsembliENST00000319921; ENSP00000324392; ENSG00000173821. [Q63HN8-5]
GeneIDi57674.
KEGGihsa:57674.
UCSCiuc002jyf.5. human. [Q63HN8-3]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11772.1. [Q63HN8-5]
CCDS58606.1. [Q63HN8-3]
RefSeqiNP_001243000.2. NM_001256071.2.
NP_066005.2. NM_020954.3. [Q63HN8-5]
UniGeneiHs.195642.
Hs.740662.
Hs.745415.

3D structure databases

ProteinModelPortaliQ63HN8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121705. 31 interactors.
IntActiQ63HN8. 16 interactors.
STRINGi9606.ENSP00000324392.

PTM databases

iPTMnetiQ63HN8.
PhosphoSitePlusiQ63HN8.

Polymorphism and mutation databases

BioMutaiRNF213.
DMDMi380865458.

Proteomic databases

EPDiQ63HN8.
MaxQBiQ63HN8.
PaxDbiQ63HN8.
PeptideAtlasiQ63HN8.
PRIDEiQ63HN8.

Protocols and materials databases

DNASUi57674.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319921; ENSP00000324392; ENSG00000173821. [Q63HN8-5]
GeneIDi57674.
KEGGihsa:57674.
UCSCiuc002jyf.5. human. [Q63HN8-3]

Organism-specific databases

CTDi57674.
DisGeNETi57674.
GeneCardsiRNF213.
H-InvDBHIX0014240.
HGNCiHGNC:14539. RNF213.
HPAiHPA003347.
HPA026790.
MalaCardsiRNF213.
MIMi607151. phenotype.
613768. gene.
neXtProtiNX_Q63HN8.
OpenTargetsiENSG00000173821.
Orphaneti2573. Moyamoya disease.
PharmGKBiPA134898812.
PA162401681.
HUGEiSearch...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE7S. Eukaryota.
ENOG410Z1EV. LUCA.
GeneTreeiENSGT00630000089884.
HOGENOMiHOG000185147.
HOVERGENiHBG073493.
InParanoidiQ63HN8.
TreeFamiTF343131.

Enzyme and pathway databases

UniPathwayiUPA00143.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

ChiTaRSiRNF213. human.
GeneWikiiRNF213.
GenomeRNAii57674.
PMAP-CutDBQ9HCF4.
PROiQ63HN8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173821.
CleanExiHS_KIAA1618.
ExpressionAtlasiQ63HN8. baseline and differential.
GenevisibleiQ63HN8. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
3.40.50.300. 3 hits.
InterProiIPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR031248. RNF213.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PANTHERiPTHR22605:SF5. PTHR22605:SF5. 1 hit.
PfamiPF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
SM00184. RING. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.
PROSITEiPS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRN213_HUMAN
AccessioniPrimary (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 historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: March 21, 2012
Last modified: November 2, 2016
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.