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Q63HN8

- RN213_HUMAN

UniProt

Q63HN8 - RN213_HUMAN

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
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 3 (21 Mar 2012)
      Previous versions | rss
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    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. 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

    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

    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

    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.
    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.
    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.

    « Hide

    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.

    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]
    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

    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 1, 2014
    This is version 103 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