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Protein

Probable E3 SUMO-protein ligase RNF212

Gene

RNF212

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity).By similarity

Pathwayi: protein sumoylation

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri7 – 4640RING-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Meiosis, Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

UniPathwayiUPA00886.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable E3 SUMO-protein ligase RNF212 (EC:6.3.2.-)
Alternative name(s):
RING finger protein 212
Gene namesi
Name:RNF212
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:27729. RNF212.

Subcellular locationi

  • Nucleus By similarity
  • Chromosome By similarity

  • Note: Associates to the synaptonemal complex. Localizes to a minority of double-strand breaks (DSBs) sites. Marks crossover sites during midpachynema (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

MalaCardsiRNF212.
MIMi612042. phenotype.
PharmGKBiPA162401656.

Polymorphism and mutation databases

BioMutaiRNF212.
DMDMi121943260.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 297297Probable E3 SUMO-protein ligase RNF212PRO_0000274612Add
BLAST

Proteomic databases

MaxQBiQ495C1.
PaxDbiQ495C1.
PRIDEiQ495C1.

PTM databases

iPTMnetiQ495C1.
PhosphoSiteiQ495C1.

Expressioni

Gene expression databases

BgeeiQ495C1.
CleanExiHS_RNF212.
ExpressionAtlasiQ495C1. baseline and differential.
GenevisibleiQ495C1. HS.

Organism-specific databases

HPAiHPA037651.

Interactioni

Protein-protein interaction databases

BioGridi130126. 1 interaction.
IntActiQ495C1. 1 interaction.
STRINGi9606.ENSP00000389709.

Structurei

3D structure databases

ProteinModelPortaliQ495C1.
SMRiQ495C1. Positions 3-51.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili91 – 12434Sequence analysisAdd
BLAST

Sequence similaritiesi

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

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri7 – 4640RING-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IXYI. Eukaryota.
ENOG410Y0SX. LUCA.
GeneTreeiENSGT00740000115581.
HOGENOMiHOG000172329.
InParanoidiQ495C1.
OMAiSPCFCID.
OrthoDBiEOG786H5R.
PhylomeDBiQ495C1.
TreeFamiTF339477.

Family and domain databases

InterProiIPR001841. Znf_RING.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF14634. zf-RING_5. 1 hit.
[Graphical view]
PROSITEiPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q495C1-1) [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
MANWVFCNRC FQPPHRTSCF SLTNCGHVYC DACLGKGKKN ECLICKAPCR
60 70 80 90 100
TVLLSKHTDA DIQAFFMSID SLCKKYSRET SQILEFQEKH RKRLLAFYRE
110 120 130 140 150
KISRLEESLR KSVLQIEQLQ SMRSSQQTAF STIKSSVSTK PHGCLLPPHS
160 170 180 190 200
SAPDRLESME VDLSPSPIRK SEIAAGPARI SMISPPQDGR MGPHLTASFC
210 220 230 240 250
FIPWLTLSKP PVPGECVISR GSPCFCIDVC PHWLLLLAFS SGRHGELTNS
260 270 280 290
KTLPIYAEVQ RAVLFPFQQA EGTLDTFRTP AVSVVFPLCQ FERKKSF
Length:297
Mass (Da):33,365
Last modified:September 13, 2005 - v1
Checksum:i9ABF48A990D68FA7
GO
Isoform 2 (identifier: Q495C1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     122-122: M → L
     124-297: Missing.

Note: No experimental confirmation available.
Show »
Length:123
Mass (Da):14,397
Checksum:i5F6ADE642678479D
GO
Isoform 3 (identifier: Q495C1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     193-297: Missing.

Note: No experimental confirmation available.
Show »
Length:192
Mass (Da):21,656
Checksum:iF8844F1D9E9977EB
GO
Isoform 4 (identifier: Q495C1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-297: ILEFQEKHRK...LCQFERKKSF → YLRLSRGCCR...NAGWSFPAAV

Note: No experimental confirmation available.Curated
Show »
Length:280
Mass (Da):31,137
Checksum:i04590CD666155988
GO
Isoform 5 (identifier: Q495C1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     192-276: GPHLTASFCF...FQQAEGTLDT → APCARRVCHF...FWKARGTHQL
     277-297: Missing.

Note: No experimental confirmation available.
Show »
Length:232
Mass (Da):26,391
Checksum:iA997E9841C50AAB2
GO
Isoform 6 (identifier: Q495C1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-297: ILEFQEKHRK...LCQFERKKSF → YLRLSRGCCR...NAGWSFPAAV

Note: No experimental confirmation available.
Show »
Length:273
Mass (Da):30,357
Checksum:iE9838F68EDD51B71
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti147 – 1471P → Q in AAH50356 (PubMed:15489334).Curated
Isoform 4 (identifier: Q495C1-4)
Sequence conflicti144 – 1441Q → H in AAH36250 (PubMed:15489334).Curated
Sequence conflicti173 – 1731Q → R in AAH36250 (PubMed:15489334).Curated
Sequence conflicti219 – 2191A → D in AAH36250 (PubMed:15489334).Curated
Sequence conflicti269 – 2691I → V in AAH36250 (PubMed:15489334).Curated

Polymorphismi

Genetic variations in RNF212 influence recombination rate, designated recombination rate quantitative trait locus 1 (RRQTL1) [MIMi:612042].1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti263 – 2631V → I.
Corresponds to variant rs17728127 [ dbSNP | Ensembl ].
VAR_059815

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei83 – 297215ILEFQ…RKKSF → YLRLSRGCCRLKLCPATSSK EVPRGSTHGSQAAARDPQEH WVSTTRAPRPGCRRSQSQPE AQGNTIQDAPHPLTLLHPSR TLIHTKSPWGQKLLEFIKHV CYHRHQSHRPCAPGWFCQVL QRPGAVSGEKTQQTRPAPPA TCLLCLSCLSGFRHGPWRWL APAWAAQALPSDLVAPLFVS YTVEVSITNAGWSFPAAV in isoform 4. 1 PublicationVSP_022839Add
BLAST
Alternative sequencei83 – 297215ILEFQ…RKKSF → YLRLSRGCCRLKLCPATSSK EVPRGSTHGSQAAARDPQEH WVSTTRAPRPGCRRSQSQPE AQGNTIQDAPHPLTLLHPSR TLIHTKSPWGQKLLEFIKHV CYHRHQSHRPCAPGWFCQVL QRPGAVSGEKTQQTRPAPPA TCLLCLSCLSGFRHGPWRSQ ALPSDLVAPLFVSYTVEVSI TNAGWSFPAAV in isoform 6. CuratedVSP_046301Add
BLAST
Alternative sequencei122 – 1221M → L in isoform 2. 1 PublicationVSP_022840
Alternative sequencei124 – 297174Missing in isoform 2. 1 PublicationVSP_022841Add
BLAST
Alternative sequencei192 – 27685GPHLT…GTLDT → APCARRVCHFQRFTMFLHRR LSSLAAPPSVQFWKARGTHQ L in isoform 5. 1 PublicationVSP_022842Add
BLAST
Alternative sequencei193 – 297105Missing in isoform 3. 1 PublicationVSP_022843Add
BLAST
Alternative sequencei277 – 29721Missing in isoform 5. 1 PublicationVSP_022844Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096160 mRNA. Translation: BAC04714.1.
AC019103 Genomic DNA. No translation available.
AC092535 Genomic DNA. No translation available.
BC036250 mRNA. Translation: AAH36250.2.
BC050356 mRNA. Translation: AAH50356.2.
BC101258 mRNA. Translation: AAI01259.1.
BC101259 mRNA. Translation: AAI01260.1.
BC101260 mRNA. Translation: AAI01261.1.
BC101261 mRNA. Translation: AAI01262.1.
CCDSiCCDS3345.1. [Q495C1-5]
CCDS46996.1. [Q495C1-1]
CCDS54704.1. [Q495C1-6]
RefSeqiNP_001124506.1. NM_001131034.3. [Q495C1-1]
NP_001180247.1. NM_001193318.2. [Q495C1-6]
NP_919420.1. NM_194439.4. [Q495C1-5]
XP_011511742.1. XM_011513440.1. [Q495C1-5]
XP_011511743.1. XM_011513441.1. [Q495C1-5]
UniGeneiHs.248290.

Genome annotation databases

EnsembliENST00000333673; ENSP00000327481; ENSG00000178222. [Q495C1-6]
ENST00000382968; ENSP00000372428; ENSG00000178222. [Q495C1-5]
ENST00000433731; ENSP00000389709; ENSG00000178222. [Q495C1-1]
ENST00000511620; ENSP00000426115; ENSG00000178222. [Q495C1-2]
GeneIDi285498.
KEGGihsa:285498.
UCSCiuc003gci.4. human. [Q495C1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096160 mRNA. Translation: BAC04714.1.
AC019103 Genomic DNA. No translation available.
AC092535 Genomic DNA. No translation available.
BC036250 mRNA. Translation: AAH36250.2.
BC050356 mRNA. Translation: AAH50356.2.
BC101258 mRNA. Translation: AAI01259.1.
BC101259 mRNA. Translation: AAI01260.1.
BC101260 mRNA. Translation: AAI01261.1.
BC101261 mRNA. Translation: AAI01262.1.
CCDSiCCDS3345.1. [Q495C1-5]
CCDS46996.1. [Q495C1-1]
CCDS54704.1. [Q495C1-6]
RefSeqiNP_001124506.1. NM_001131034.3. [Q495C1-1]
NP_001180247.1. NM_001193318.2. [Q495C1-6]
NP_919420.1. NM_194439.4. [Q495C1-5]
XP_011511742.1. XM_011513440.1. [Q495C1-5]
XP_011511743.1. XM_011513441.1. [Q495C1-5]
UniGeneiHs.248290.

3D structure databases

ProteinModelPortaliQ495C1.
SMRiQ495C1. Positions 3-51.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130126. 1 interaction.
IntActiQ495C1. 1 interaction.
STRINGi9606.ENSP00000389709.

PTM databases

iPTMnetiQ495C1.
PhosphoSiteiQ495C1.

Polymorphism and mutation databases

BioMutaiRNF212.
DMDMi121943260.

Proteomic databases

MaxQBiQ495C1.
PaxDbiQ495C1.
PRIDEiQ495C1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333673; ENSP00000327481; ENSG00000178222. [Q495C1-6]
ENST00000382968; ENSP00000372428; ENSG00000178222. [Q495C1-5]
ENST00000433731; ENSP00000389709; ENSG00000178222. [Q495C1-1]
ENST00000511620; ENSP00000426115; ENSG00000178222. [Q495C1-2]
GeneIDi285498.
KEGGihsa:285498.
UCSCiuc003gci.4. human. [Q495C1-1]

Organism-specific databases

CTDi285498.
GeneCardsiRNF212.
HGNCiHGNC:27729. RNF212.
HPAiHPA037651.
MalaCardsiRNF212.
MIMi612041. gene.
612042. phenotype.
neXtProtiNX_Q495C1.
PharmGKBiPA162401656.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXYI. Eukaryota.
ENOG410Y0SX. LUCA.
GeneTreeiENSGT00740000115581.
HOGENOMiHOG000172329.
InParanoidiQ495C1.
OMAiSPCFCID.
OrthoDBiEOG786H5R.
PhylomeDBiQ495C1.
TreeFamiTF339477.

Enzyme and pathway databases

UniPathwayiUPA00886.

Miscellaneous databases

ChiTaRSiRNF212. human.
GenomeRNAii285498.
NextBioi95551.
PROiQ495C1.
SOURCEiSearch...

Gene expression databases

BgeeiQ495C1.
CleanExiHS_RNF212.
ExpressionAtlasiQ495C1. baseline and differential.
GenevisibleiQ495C1. HS.

Family and domain databases

InterProiIPR001841. Znf_RING.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF14634. zf-RING_5. 1 hit.
[Graphical view]
PROSITEiPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORM 5).
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 1; 2; 3 AND 4).
    Tissue: Brain and Testis.
  4. Cited for: ASSOCIATION WITH RRQTL1.

Entry informationi

Entry nameiRN212_HUMAN
AccessioniPrimary (citable) accession number: Q495C1
Secondary accession number(s): C9J8N0
, Q495C0, Q86W82, Q8IY99, Q8N8U7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: September 13, 2005
Last modified: May 11, 2016
This is version 89 of the entry and version 1 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

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