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Q63HN8

- RN213_HUMAN

UniProt

Q63HN8 - RN213_HUMAN

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Protein

E3 ubiquitin-protein ligase RNF213

Gene

RNF213

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

Functioni

Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity.

Pathwayi

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri3997 – 403640RING-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. ATPase activity Source: UniProtKB
  2. ligase activity Source: UniProtKB-KW
  3. ubiquitin-protein transferase activity Source: UniProtKB
  4. zinc ion binding Source: InterPro

GO - Biological processi

  1. ATP catabolic process Source: UniProtKB
  2. protein autoubiquitination Source: UniProtKB
  3. protein ubiquitination Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
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 namesi
Name:RNF213
Synonyms:ALO17, C17orf27, KIAA1554, KIAA1618, MYSTR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:14539. RNF213.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4810 – 48101R → K in MYMY2; very frequent in individuals affected by Moyamoya disease; strongly increases the risk of Moyamoya disease. 2 Publications
VAR_067030
A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

MIMi607151. phenotype.
Orphaneti2573. Moyamoya disease.
PharmGKBiPA134898812.
PA162401681.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 52075207E3 ubiquitin-protein ligase RNF213PRO_0000415917Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei217 – 2171Phosphoserine1 Publication
Modified residuei1258 – 12581Phosphoserine7 Publications

Post-translational modificationi

Autoubiquitinates.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ63HN8.
PaxDbiQ63HN8.
PRIDEiQ63HN8.

PTM databases

PhosphoSiteiQ63HN8.

Miscellaneous databases

PMAP-CutDBQ9HCF4.

Expressioni

Tissue specificityi

Widely expressed (at protein level).1 Publication

Gene expression databases

BgeeiQ63HN8.
CleanExiHS_KIAA1618.
ExpressionAtlasiQ63HN8. baseline and differential.
GenevestigatoriQ9HCF4.

Organism-specific databases

HPAiHPA003347.
HPA026790.

Interactioni

Protein-protein interaction databases

BioGridi121705. 11 interactions.
IntActiQ63HN8. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ63HN8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili343 – 37432Sequence AnalysisAdd
BLAST

Domaini

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

Sequence similaritiesi

Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri3997 – 403640RING-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiNOG86922.
GeneTreeiENSGT00630000089884.
HOGENOMiHOG000185147.
HOVERGENiHBG073493.
InParanoidiQ63HN8.
OMAiFLNQIGL.
TreeFamiTF343131.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
3.40.50.300. 3 hits.
InterProiIPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
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. Align

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 BAB13444.1 differs from that shown. Reason: Probable cloning artifact.
The sequence CAH10615.1 differs from that shown. Reason: Frameshift at positions 211, 213, 221 and 266.
The sequence AAH32220.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
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 BAB15330.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAH56189.1 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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti270 – 2701M → T in AAH36891. (PubMed:15489334)Curated
Sequence conflicti270 – 2701M → T in AAH40341. (PubMed:15489334)Curated
Sequence conflicti321 – 3211M → T in AAH36891. (PubMed:15489334)Curated
Sequence conflicti321 – 3211M → T in AAH40341. (PubMed:15489334)Curated
Sequence conflicti369 – 3691K → N in AAH36891. (PubMed:15489334)Curated
Sequence conflicti1045 – 10451N → D in BAK53191. (PubMed:21799892)Curated
Sequence conflicti1045 – 10451N → D in BAB13444. (PubMed:10997877)Curated
Sequence conflicti1133 – 11331Q → K in BAB13444. (PubMed:10997877)Curated
Sequence conflicti1195 – 11951V → M in BAB13444. (PubMed:10997877)Curated
Sequence conflicti1272 – 12721E → Q in BAB13444. (PubMed:10997877)Curated
Sequence conflicti1331 – 13311D → G in BAB13444. (PubMed:10997877)Curated
Sequence conflicti3323 – 33231R → G in CAH56189. (PubMed:17974005)Curated
Sequence conflicti4220 – 42201E → G in BAB15212. (PubMed:14702039)Curated
Sequence conflicti4571 – 45711D → G in BAB15280. (PubMed:14702039)Curated
Sequence conflicti4853 – 48531K → R in BAB15212. (PubMed:14702039)Curated
Sequence conflicti4892 – 48921N → S in BAB15212. (PubMed:14702039)Curated
Sequence conflicti5139 – 51391L → S in BAB15280. (PubMed:14702039)Curated
Sequence conflicti5187 – 51871L → P in BAB15330. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2554 – 25541D → E.1 Publication
Corresponds to variant rs138516230 [ dbSNP | Ensembl ].
VAR_067020
Natural varianti3891 – 38911M → V Rare variant detected in a sporadic case of Moyamoya disease. 1 Publication
VAR_067021
Natural varianti3915 – 39151E → G.1 Publication
Corresponds to variant rs61740658 [ dbSNP | Ensembl ].
VAR_067022
Natural varianti3962 – 39621N → D Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication
VAR_067023
Natural varianti4013 – 40131D → N Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication
VAR_067024
Natural varianti4062 – 40621R → Q Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication
VAR_067025
Natural varianti4399 – 43991A → T.1 Publication
Corresponds to variant rs148731719 [ dbSNP | Ensembl ].
VAR_067026
Natural varianti4567 – 45671V → M Rare variant detected in a sporadic case of Moyamoya disease. 1 Publication
Corresponds to variant rs145282452 [ dbSNP | Ensembl ].
VAR_067027
Natural varianti4608 – 46081P → S Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication
VAR_067028
Natural varianti4765 – 47651V → M Rare variant detected in a sporadic case of Moyamoya disease. 1 Publication
VAR_067029
Natural varianti4810 – 48101R → K in MYMY2; very frequent in individuals affected by Moyamoya disease; strongly increases the risk of Moyamoya disease. 2 Publications
VAR_067030
Natural varianti4863 – 48631D → N Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication
VAR_067031
Natural varianti4950 – 49501E → D Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication
VAR_067032
Natural varianti5021 – 50211A → V Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication
Corresponds to variant rs138130613 [ dbSNP | Ensembl ].
VAR_067033
Natural varianti5160 – 51601D → E Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication
VAR_067034
Natural varianti5176 – 51761E → G Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication
VAR_067035

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 46504650Missing in isoform 4. 1 PublicationVSP_042416Add
BLAST
Alternative sequencei87 – 871E → EGATSEVLVDAAVDLISDEW EAANAIPSKRRKQDAAPLEA ASVPSADCEQ in isoform 2. CuratedVSP_042417
Alternative sequencei1009 – 106355SQTSI…HVFRL → VNNLSSWETDSGSQLCSAMT QLRAMKHPLGLSSSANSEIG KWAPSSLAKGNGAEI in isoform 3. 2 PublicationsVSP_042418Add
BLAST
Alternative sequencei1064 – 52074144Missing in isoform 3. 2 PublicationsVSP_042419Add
BLAST
Alternative sequencei4651 – 466010QEQHQLSSRR → MTRKSAPTSG in isoform 4. 1 PublicationVSP_042420

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human. [Q63HN8-5]
uc021uen.2. human. [Q63HN8-3]

Polymorphism databases

DMDMi380865458.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11772.1. [Q63HN8-5 ]
CCDS58606.1. [Q63HN8-3 ]
RefSeqi NP_001243000.2. NM_001256071.2.
NP_066005.2. NM_020954.3. [Q63HN8-5 ]
UniGenei Hs.195642.
Hs.740662.
Hs.745415.

3D structure databases

ProteinModelPortali Q63HN8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121705. 11 interactions.
IntActi Q63HN8. 3 interactions.

PTM databases

PhosphoSitei Q63HN8.

Polymorphism databases

DMDMi 380865458.

Proteomic databases

MaxQBi Q63HN8.
PaxDbi Q63HN8.
PRIDEi Q63HN8.

Protocols and materials databases

DNASUi 57674.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000319921 ; ENSP00000324392 ; ENSG00000173821 . [Q63HN8-5 ]
GeneIDi 57674.
KEGGi hsa:57674.
UCSCi uc002jyf.4. human. [Q63HN8-5 ]
uc021uen.2. human. [Q63HN8-3 ]

Organism-specific databases

CTDi 57674.
GeneCardsi GC17P078235.
H-InvDB HIX0014240.
HGNCi HGNC:14539. RNF213.
HPAi HPA003347.
HPA026790.
MIMi 607151. phenotype.
613768. gene.
neXtProti NX_Q63HN8.
Orphaneti 2573. Moyamoya disease.
PharmGKBi PA134898812.
PA162401681.
HUGEi Search...
Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG86922.
GeneTreei ENSGT00630000089884.
HOGENOMi HOG000185147.
HOVERGENi HBG073493.
InParanoidi Q63HN8.
OMAi FLNQIGL.
TreeFami TF343131.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

ChiTaRSi RNF213. human.
GeneWikii RNF213.
GenomeRNAii 57674.
NextBioi 64478.
PMAP-CutDB Q9HCF4.
PROi Q63HN8.
SOURCEi Search...

Gene expression databases

Bgeei Q63HN8.
CleanExi HS_KIAA1618.
ExpressionAtlasi Q63HN8. baseline and differential.
Genevestigatori Q9HCF4.

Family and domain databases

Gene3Di 3.30.40.10. 1 hit.
3.40.50.300. 3 hits.
InterProi IPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF00097. zf-C3HC4. 1 hit.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
SM00184. RING. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 3 hits.
PROSITEi PS50089. ZF_RING_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. 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. 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. 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. Cited for: VARIANTS GLU-2554; VAL-3891; GLY-3915; THR-4399; MET-4567 AND MET-4765, VARIANT MYMY2 LYS-4810.

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: October 29, 2014
This is version 104 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

External Data

Dasty 3