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Q63HN8

- RN213_HUMAN

UniProt

Q63HN8 - RN213_HUMAN

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Protein

E3 ubiquitin-protein ligase RNF213

Gene
RNF213, ALO17, C17orf27, KIAA1554, KIAA1618, MYSTR
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-typeAdd
BLAST

GO - Molecular functioni

  1. ATPase activity Source: UniProtKB
  2. ligase activity Source: UniProtKB-KW
  3. nucleotide binding Source: InterPro
  4. ubiquitin-protein transferase activity Source: UniProtKB
  5. 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
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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.2 Publications
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.

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

ArrayExpressiQ63HN8.
BgeeiQ63HN8.
CleanExiHS_KIAA1618.
GenevestigatoriQ9HCF4.

Organism-specific databases

HPAiHPA003347.
HPA026790.

Interactioni

Protein-protein interaction databases

BioGridi121705. 9 interactions.
IntActiQ63HN8. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ63HN8.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili343 – 37432 Reviewed predictionAdd
BLAST

Domaini

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

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri3997 – 403640RING-typeAdd
BLAST

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiNOG86922.
HOGENOMiHOG000185147.
HOVERGENiHBG073493.
InParanoidiQ9HCF4.
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.

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MECPSCQHVS KEETPKFCSQ CGERLPPAAP IADSENNNST MASASEGEME     50
CGQELKEEGG PCLFPGSDSW QENPEEPCSK ASWTVQESKK KKRKKKKKGN 100
KSASSELASL PLSPASPCHL TLLSNPWPQD TALPHSQAQQ SGPTGQPSQP 150
PGTATTPLEG DGLSAPTEVG DSPLQAQALG EAGVATGSEA QSSPQFQDHT 200
EGEDQDASIP SGGRGLSQEG TGPPTSAGEG HSRTEDAAQE LLLPESKGGS 250
SEPGTELQTT EQQAGASASM AVDAVAEPAN AVKGAGKEMK EKTQRMKQPP 300
ATTPPFKTHC QEAETKTKDE MAAAEEKVGK NEQGEPEDLK KPEGKNRSAA 350
AVKNEKEQKN QEADVQEVKA STLSPGGGVT VFFHAIISLH FPFNPDLHKV 400
FIRGGEEFGE SKWDSNICEL HYTRDLGHDR VLVEGIVCIS KKHLDKYIPY 450
KYVIYNGESF EYEFIYKHQQ KKGEYVNRCL FIKSSLLGSG DWHQYYDIVY 500
MKPHGRLQKV MNHITDGPRK DLVKGKQIAA ALMLDSTFSI LQTWDTINLN 550
SFFTQFEQFC FVLQQPMIYE GQAQLWTDLQ YREKEVKRYL WQHLKKHVVP 600
LPDGKSTDFL PVDCPVRSKL KTGLIVLFVV EKIELLLEGS LDWLCHLLTS 650
DASSPDEFHR DLSHILGIPQ SWRLYLVNLC QRCMDTRTYT WLGALPVLHC 700
CMELAPRHKD AWRQPEDTWA ALEGLSFSPF REQMLDTSSL LQFMREKQHL 750
LSIDEPLFRS WFSLLPLSHL VMYMENFIEH LGRFPAHILD CLSGIYYRLP 800
GLEQVLNTQD VQDVQNVQNI LEMLLRLLDT YRDKIPEEAL SPSYLTVCLK 850
LHEAICSSTK LLKFYELPAL SAEIVCRMIR LLSLVDSAGQ RDETGNNSVQ 900
TVFQGTLAAT KRWLREVFTK NMLTSSGASF TYVKEIEVWR RLVEIQFPAE 950
HGWKESLLGD MEWRLTKEEP LSQITAYCNS CWDTKGLEDS VAKTFEKCII 1000
EAVSSACQSQ TSILQGFSYS DLRKFGIVLS AVITKSWPRT ADNFNDILKH 1050
LLTLADVKHV FRLCGTDEKI LANVTEDAKR LIAVADSVLT KVVGDLLSGT 1100
ILVGQLELII KHKNQFLDIW QLREKSLSPQ DEQCAVEEAL DWRREELLLL 1150
KKEKRCVDSL LKMCGNVKHL IQVDFGVLAV RHSQDLSSKR LNDTVTVRLS 1200
TSSNSQRATH YHLSSQVQEM AGKIDLLRDS HIFQLFWREA AEPLSEPKED 1250
QEAAELLSEP EEESERHILE LEEVYDYLYQ PSYRKFIKLH QDLKSGEVTL 1300
AEIDVIFKDF VNKYTDLDSE LKIMCTVDHQ DQRDWIKDRV EQIKEYHHLH 1350
QAVHAAKVIL QVKESLGLNG DFSVLNTLLN FTDNFDDFRR ETLDQINQEL 1400
IQAKKLLQDI SEARCKGLQA LSLRKEFICW VREALGGINE LKVFVDLASI 1450
SAGENDIDVD RVACFHDAVQ GYASLLFKLD PSVDFSAFMK HLKKLWKALD 1500
KDQYLPRKLC DSARNLEWLK TVNESHGSVE RSSLTLATAI NQRGIYVIQA 1550
PKGGQKISPD TVLHLILPES PGSHEESREY SLEEVKELLN KLMLMSGKKD 1600
RNNTEVERFS EVFCSVQRLS QAFIDLHSAG NMLFRTWIAM AYCSPKQGVS 1650
LQMDFGLDLV TELKEGGDVT ELLAALCRQM EHFLDSWKRF VTQKRMEHFY 1700
LNFYTAEQLV YLSTELRKQP PSDAALTMLS FIKSNCTLRD VLRASVGCGS 1750
EAARYRMRRV MEELPLMLLS EFSLVDKLRI IMEQSMRCLP AFLPDCLDLE 1800
TLGHCLAHLA GMGGSPVERC LPRGLQVGQP NLVVCGHSEV LPAALAVYMQ 1850
TPSQPLPTYD EVLLCTPATT FEEVALLLRR CLTLGSLGHK VYSLLFADQL 1900
SYEVARQAEE LFHNLCTQQH REDYQLVMVC DGDWEHCYLP SAFSQHKVFV 1950
TPQAPLEAIQ AYLAGHYRVP KQTLSAAAVF NDRLCVGIVA SERAGVGKSL 2000
YVKRLHDKMK MQLNVKNVPL KTIRLIDPQV DESRVLGALL PFLDAQYQKV 2050
PVLFHLDVTS SVQTGIWVFL FKLLILQYLM DINGKMWLRN PCHLYIVEIL 2100
ERRTSVPSRS SSALRTRVPQ FSFLDIFPKV TCRPPKEVID MELSALRSDT 2150
EPGMDLWEFC SETFQRPYQY LRRFNQNQDL DTFQYQEGSV EGTPEECLQH 2200
FLFHCGVINP SWSELRNFAR FLNYQLRDCE ASLFCNPSFI GDTLRGFKKF 2250
VVTFMIFMAR DFATPSLHTS DQSPGKHMVT MDGVREEDLA PFSLRKRWES 2300
EPHPYVFFND DHTTMTFIGF HLQPNINGSV DAISHLTGKV IKRDVMTRDL 2350
YQGLLLQRVP FNVDFDKLPR HKKLERLCLT LGIPQATDPD KTYELTTDNM 2400
LKILAIEMRF RCGIPVIIMG ETGCGKTRLI KFLSDLRRGG TNADTIKLVK 2450
VHGGTTADMI YSRVREAENV AFANKDQHQL DTILFFDEAN TTEAISCIKE 2500
VLCDHMVDGQ PLAEDSGLHI IAACNPYRKH SEEMICRLES AGLGYRVSME 2550
ETADRLGSIP LRQLVYRVHA LPPSLIPLVW DFGQLSDVAE KLYIQQIVQR 2600
LVESISLDEN GTRVITEVLC ASQGFMRKTE DECSFVSLRD VERCVKVFRW 2650
FHEHSAMLLA QLNAFLSKSS VSKNHTERDP VLWSLMLAIG VCYHASLEKK 2700
DSYRKAIARF FPKPYDDSRL LLDEITRAQD LFLDGVPLRK TIAKNLALKE 2750
NVFMMVVCIE LKIPLFLVGK PGSSKSLAKT IVADAMQGPA AYSDLFRSLK 2800
QVHLVSFQCS PHSTPQGIIS TFRQCARFQQ GKDLQQYVSV VVLDEVGLAE 2850
DSPKMPLKTL HPLLEDGCIE DDPAPHKKVG FVGISNWALD PAKMNRGIFV 2900
SRGSPNETEL IESAKGICSS DILVQDRVQG YFASFAKAYE TVCKRQDKEF 2950
FGLRDYYSLI KMVFAAAKAS NRKPSPQDIA QAVLRNFSGK DDIQALDIFL 3000
ANLPEAKCSE EVSPMQLIKQ NIFGPSQKVP GGEQEDAESR YLLVLTKNYV 3050
ALQILQQTFF EGDQQPEIIF GSGFPKDQEY TQLCRNINRV KICMETGKMV 3100
LLLNLQNLYE SLYDALNQYY VHLGGQKYVD LGLGTHRVKC RVHPNFRLIV 3150
IEEKDVVYKH FPIPLINRLE KHYLDINTVL EKWQKSIVEE LCAWVEKFIN 3200
VKAHHFQKRH KYSPSDVFIG YHSDACASVV LQVIERQGPR ALTEELHQKV 3250
SEEAKSILLN CATPDAVVRL SAYSLGGFAA EWLSQEYFHR QRHNSFADFL 3300
QAHLHTADLE RHAIFTEITT FSRLLTSHDC EILESEVTGR APKPTLLWLQ 3350
QFDTEYSFLK EVRNCLTNTA KCKILIFQTD FEDGIRSAQL IASAKYSVIN 3400
EINKIRENED RIFVYFITKL SRVGRGTAYV GFHGGLWQSV HIDDLRRSTL 3450
MVSDVTRLQH VTISQLFAPG DLPELGLEHR AEDGHEEAME TEASTSGEVA 3500
EVAEEAMETE SSEKVGKETS ELGGSDVSIL DTTRLLRSCV QSAVGMLRDQ 3550
NESCTRNMRR VVLLLGLLNE DDACHASFLR VSKMRLSVFL KKQEESQFHP 3600
LEWLAREACN QDALQEAGTF RHTLWKRVQG AVTPLLASMI SFIDRDGNLE 3650
LLTRPDTPPW ARDLWMFIFS DTMLLNIPLV MNNERHKGEM AYIVVQNHMN 3700
LSENASNNVP FSWKIKDYLE ELWVQAQYIT DAEGLPKKFV DIFQQTPLGR 3750
FLAQLHGEPQ QELLQCYLKD FILLTMRVST EEELKFLQMA LWSCTRKLKA 3800
ASEAPEEEVS LPWVHLAYQR FRSRLQNFSR ILTIYPQVLH SLMEARWNHE 3850
LAGCEMTLDA FAAMACTEML TRNTLKPSPQ AWLQLVKNLS MPLELICSDE 3900
HMQGSGSLAQ AVIREVRAQW SRIFSTALFV EHVLLGTESR VPELQGLVTE 3950
HVFLLDKCLR ENSDVKTHGP FEAVMRTLCE CKETASKTLS RFGIQPCSIC 4000
LGDAKDPVCL PCDHVHCLRC LRAWFASEQM ICPYCLTALP DEFSPAVSQA 4050
HREAIEKHAR FRQMCNSFFV DLVSTICFKD NAPPEKEVIE SLLSLLFVQK 4100
GRLRDAAQRH CEHTKSLSPF NDVVDKTPVI RSVILKLLLK YSFHDVKDYI 4150
QEYLTLLKKK AFITEDKTEL YMLFINCLED SILEKTSAYS RNDELNHLEE 4200
EGRFLKAYSP ASRGREPANE ASVEYLQEVA RIRLCLDRAA DFLSEPEGGP 4250
EMAKEKQCYL QQVKQFCIRV ENDWHRVYLV RKLSSQRGME FVQGLSKPGR 4300
PHQWVFPKDV VKQQGLRQDH PGQMDRYLVY GDEYKALRDA VAKAVLECKP 4350
LGIKTALKAC KTPQSQQSAY FLLTLFREVA ILYRSHNASL HPTPEQCEAV 4400
SKFIGECKIL SPPDISRFAT SLVDNSVPLL RAGPSDSNLD GTVTEMAIHA 4450
AAVLLCGQNE LLEPLKNLAF SPATMAHAFL PTMPEDLLAQ ARRWKGLERV 4500
HWYTCPNGHP CSVGECGRPM EQSICIDCHA PIGGIDHKPR DGFHLVKDKA 4550
DRTQTGHVLG NPQRRDVVTC DRGLPPVVFL LIRLLTHLAL LLGASQSSQA 4600
LINIIKPPVR DPKGFLQQHI LKDLEQLAKM LGHSADETIG VVHLVLRRLL 4650
QEQHQLSSRR LLNFDTELST KEMRNNWEKE IAAVISPELE HLDKTLPTMN 4700
NLISQDKRIS SNPVAKIIYG DPVTFLPHLP RKSVVHCSKI WSCRKRITVE 4750
YLQHIVEQKN GKERVPILWH FLQKEAELRL VKFLPEILAL QRDLVKQFQN 4800
VQQVEYSSIR GFLSKHSSDG LRQLLHNRIT VFLSTWNKLR RSLETNGEIN 4850
LPKDYCSTDL DLDTEFEILL PRRRGLGLCA TALVSYLIRL HNEIVYAVEK 4900
LSKENNSYSV DAAEVTELHV ISYEVERDLT PLILSNCQYQ VEEGRETVQE 4950
FDLEKIQRQI VSRFLQGKPR LSLKGIPTLV YRHDWNYEHL FMDIKNKMAQ 5000
DSLPSSVISA ISGQLQSYSD ACEVLSVVEV TLGFLSTAGG DPNMQLNVYT 5050
QDILQMGDQT IHVLKALNRC QLKHTIALWQ FLSAHKSEQL LRLHKEPFGE 5100
ISSRYKADLS PENAKLLSTF LNQTGLDAFL LELHEMIILK LKNPQTQTEE 5150
RFRPQWSLRD TLVSYMQTKE SEILPEMASQ FPEEILLASC VSVWKTAAVL 5200
KWNREMR 5207

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.

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. VSP_042416Add
BLAST
Alternative sequencei87 – 871E → EGATSEVLVDAAVDLISDEW EAANAIPSKRRKQDAAPLEA ASVPSADCEQ in isoform 2. VSP_042417
Alternative sequencei1009 – 106355SQTSI…HVFRL → VNNLSSWETDSGSQLCSAMT QLRAMKHPLGLSSSANSEIG KWAPSSLAKGNGAEI in isoform 3. VSP_042418Add
BLAST
Alternative sequencei1064 – 52074144Missing in isoform 3. VSP_042419Add
BLAST
Alternative sequencei4651 – 466010QEQHQLSSRR → MTRKSAPTSG in isoform 4. VSP_042420

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti270 – 2701M → T in AAH36891. 1 Publication
Sequence conflicti270 – 2701M → T in AAH40341. 1 Publication
Sequence conflicti321 – 3211M → T in AAH36891. 1 Publication
Sequence conflicti321 – 3211M → T in AAH40341. 1 Publication
Sequence conflicti369 – 3691K → N in AAH36891. 1 Publication
Sequence conflicti1045 – 10451N → D in BAK53191. 1 Publication
Sequence conflicti1045 – 10451N → D in BAB13444. 1 Publication
Sequence conflicti1133 – 11331Q → K in BAB13444. 1 Publication
Sequence conflicti1195 – 11951V → M in BAB13444. 1 Publication
Sequence conflicti1272 – 12721E → Q in BAB13444. 1 Publication
Sequence conflicti1331 – 13311D → G in BAB13444. 1 Publication
Sequence conflicti3323 – 33231R → G in CAH56189. 1 Publication
Sequence conflicti4220 – 42201E → G in BAB15212. 1 Publication
Sequence conflicti4571 – 45711D → G in BAB15280. 1 Publication
Sequence conflicti4853 – 48531K → R in BAB15212. 1 Publication
Sequence conflicti4892 – 48921N → S in BAB15212. 1 Publication
Sequence conflicti5139 – 51391L → S in BAB15280. 1 Publication
Sequence conflicti5187 – 51871L → P in BAB15330. 1 Publication

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]
ENST00000508628; ENSP00000425956; ENSG00000173821. [Q63HN8-4]
ENST00000582970; ENSP00000464087; ENSG00000173821. [Q63HN8-3]
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. 9 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 ]
ENST00000508628 ; ENSP00000425956 ; ENSG00000173821 . [Q63HN8-4 ]
ENST00000582970 ; ENSP00000464087 ; ENSG00000173821 . [Q63HN8-3 ]
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.
HOGENOMi HOG000185147.
HOVERGENi HBG073493.
InParanoidi Q9HCF4.
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

ArrayExpressi Q63HN8.
Bgeei Q63HN8.
CleanExi HS_KIAA1618.
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: September 3, 2014
This is version 102 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

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