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Entry version 173 (31 Jul 2019)
Sequence version 3 (03 Apr 2007)
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Protein

E3 ubiquitin-protein ligase RLIM

Gene

RLIM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex. Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of TERF1. By targeting ZFP42 for degradation, acts as an activator of random inactivation of X chromosome in the embryo, a stochastic process in which one X chromosome is inactivated to minimize sex-related dosage differences of X-encoded genes in somatic cells of female placental mammals.2 Publications

Miscellaneous

Acts as a positive coregulator of ESR1-mediated transcription in breast cancer cells.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.27

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri570 – 611RING-typePROSITE-ProRule annotationAdd BLAST42

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processTranscription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
E3 ubiquitin-protein ligase RLIM (EC:2.3.2.27)
Alternative name(s):
LIM domain-interacting RING finger protein
RING finger LIM domain-binding protein
Short name:
R-LIM
RING finger protein 12
RING-type E3 ubiquitin transferase RLIMCurated
Renal carcinoma antigen NY-REN-43
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RLIM
Synonyms:RNF12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13429 RLIM

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300379 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NVW2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Tonne-Kalscheuer syndrome (TOKAS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077826356Y → C in TOKAS. 1 PublicationCorresponds to variant dbSNP:rs786205133EnsemblClinVar.1
Natural variantiVAR_077827387R → C in TOKAS. 1 Publication1
Natural variantiVAR_077828587P → R in TOKAS. 1 Publication1
Natural variantiVAR_077829599R → C in TOKAS. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51132

MalaCards human disease database

More...
MalaCardsi
RLIM
MIMi300978 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000131263

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
528084 Non-specific syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164725373

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RLIM

Domain mapping of disease mutations (DMDM)

More...
DMDMi
143811451

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000560521 – 624E3 ubiquitin-protein ligase RLIMAdd BLAST624

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei164PhosphoserineBy similarity1
Modified residuei195PhosphoserineCombined sources1
Modified residuei228PhosphoserineCombined sources1
Modified residuei230PhosphoserineCombined sources1
Modified residuei276PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NVW2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NVW2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NVW2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NVW2

PeptideAtlas

More...
PeptideAtlasi
Q9NVW2

PRoteomics IDEntifications database

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PRIDEi
Q9NVW2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82872 [Q9NVW2-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NVW2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NVW2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in many tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000131263 Expressed in 205 organ(s), highest expression level in forebrain

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NVW2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018895

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with LIM/homeobox factors such as LHX3.

Interacts with LDB1, LDB2 and SIN3A (By similarity).

Interacts with LIMK1 (By similarity).

Interacts (via N-terminus) with TERF1.

Interacts (via C-terminus) with ESR1.

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119319, 41 interactors

Protein interaction database and analysis system

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IntActi
Q9NVW2, 14 interactors

Molecular INTeraction database

More...
MINTi
Q9NVW2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000328059

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NVW2

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi621 – 624PDZ-bindingSequence analysis4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi422 – 506Ser-richAdd BLAST85
Compositional biasi453 – 481Poly-SerAdd BLAST29
Compositional biasi500 – 506Poly-Ser7

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RNF12 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri570 – 611RING-typePROSITE-ProRule annotationAdd BLAST42

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0800 Eukaryota
ENOG41121N2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155753

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000273881

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NVW2

KEGG Orthology (KO)

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KOi
K16271

Identification of Orthologs from Complete Genome Data

More...
OMAi
NGSQNPE

Database of Orthologous Groups

More...
OrthoDBi
1487241at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NVW2

TreeFam database of animal gene trees

More...
TreeFami
TF325756

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13639 zf-RING_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00184 RING, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50089 ZF_RING_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NVW2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MENSDSNDKG SGDQSAAQRR SQMDRLDREE AFYQFVNNLS EEDYRLMRDN
60 70 80 90 100
NLLGTPGEST EEELLRRLQQ IKEGPPPQNS DENRGGDSSD DVSNGDSIID
110 120 130 140 150
WLNSVRQTGN TTRSGQRGNQ SWRAVSRTNP NSGDFRFSLE INVNRNNGSQ
160 170 180 190 200
NSENENEPSA RRSSGENVEN NSQRQVENPR SESTSARPSR SERNSTEALT
210 220 230 240 250
EVPPTRGQRR ARSRSPDHRR TRARAERSRS PLHPMSEIPR RSHHSISSQT
260 270 280 290 300
FEHPLVNETE GSSRTRHHVT LRQQISGPEL LSRGLFAASG TRNASQGAGS
310 320 330 340 350
SDTAASGEST GSGQRPPTIV LDLQVRRVRP GEYRQRDSIA SRTRSRSQTP
360 370 380 390 400
NNTVTYESER GGFRRTFSRS ERAGVRTYVS TIRIPIRRIL NTGLSETTSV
410 420 430 440 450
AIQTMLRQIM TGFGELSYFM YSDSDSEPTG SVSNRNMERA ESRSGRGGSG
460 470 480 490 500
GGSSSGSSSS SSSSSSSSSS SSSSSSPSSS SGGESSETSS DLFEGSNEGS
510 520 530 540 550
SSSGSSGARR EGRHRAPVTF DESGSLPFLS LAQFFLLNED DDDQPRGLTK
560 570 580 590 600
EQIDNLAMRS FGENDALKTC SVCITEYTEG NKLRKLPCSH EYHVHCIDRW
610 620
LSENSTCPIC RRAVLASGNR ESVV
Length:624
Mass (Da):68,549
Last modified:April 3, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4D583FA6872B51D3
GO
Isoform 2 (identifier: Q9NVW2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MEN → MLT
     4-144: Missing.

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):52,638
Checksum:i1167FBEDA180A3A9
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD42875 differs from that shown. Reason: Frameshift at positions 134 and 142.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti126S → C in CAC14228 (PubMed:11013082).Curated1
Sequence conflicti134D → N in CAC14228 (PubMed:11013082).Curated1
Sequence conflicti144 – 145NR → YS in CAC14228 (PubMed:11013082).Curated2
Sequence conflicti418Y → H in BAA91632 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077826356Y → C in TOKAS. 1 PublicationCorresponds to variant dbSNP:rs786205133EnsemblClinVar.1
Natural variantiVAR_077827387R → C in TOKAS. 1 Publication1
Natural variantiVAR_077828587P → R in TOKAS. 1 Publication1
Natural variantiVAR_074175590H → P1 Publication1
Natural variantiVAR_077829599R → C in TOKAS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0554281 – 3MEN → MLT in isoform 2. 1 Publication3
Alternative sequenceiVSP_0554294 – 144Missing in isoform 2. 1 PublicationAdd BLAST141

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF155109 mRNA Translation: AAD42875.1 Frameshift.
AJ271670 Genomic DNA Translation: CAC14228.1
AK001334 mRNA Translation: BAA91632.1
AK314760 mRNA Translation: BAG37298.1
AL513007 Genomic DNA No translation available.
CH471104 Genomic DNA Translation: EAW98639.1
CH471104 Genomic DNA Translation: EAW98640.1
BC013357 mRNA Translation: AAH13357.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14427.1 [Q9NVW2-1]

NCBI Reference Sequences

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RefSeqi
NP_057204.2, NM_016120.3 [Q9NVW2-1]
NP_899196.1, NM_183353.2 [Q9NVW2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000332687; ENSP00000328059; ENSG00000131263 [Q9NVW2-1]
ENST00000349225; ENSP00000253571; ENSG00000131263 [Q9NVW2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51132

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51132

UCSC genome browser

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UCSCi
uc004ebu.4 human [Q9NVW2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155109 mRNA Translation: AAD42875.1 Frameshift.
AJ271670 Genomic DNA Translation: CAC14228.1
AK001334 mRNA Translation: BAA91632.1
AK314760 mRNA Translation: BAG37298.1
AL513007 Genomic DNA No translation available.
CH471104 Genomic DNA Translation: EAW98639.1
CH471104 Genomic DNA Translation: EAW98640.1
BC013357 mRNA Translation: AAH13357.1
CCDSiCCDS14427.1 [Q9NVW2-1]
RefSeqiNP_057204.2, NM_016120.3 [Q9NVW2-1]
NP_899196.1, NM_183353.2 [Q9NVW2-1]

3D structure databases

SMRiQ9NVW2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119319, 41 interactors
IntActiQ9NVW2, 14 interactors
MINTiQ9NVW2
STRINGi9606.ENSP00000328059

PTM databases

iPTMnetiQ9NVW2
PhosphoSitePlusiQ9NVW2

Polymorphism and mutation databases

BioMutaiRLIM
DMDMi143811451

Proteomic databases

EPDiQ9NVW2
jPOSTiQ9NVW2
MaxQBiQ9NVW2
PaxDbiQ9NVW2
PeptideAtlasiQ9NVW2
PRIDEiQ9NVW2
ProteomicsDBi82872 [Q9NVW2-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
51132
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332687; ENSP00000328059; ENSG00000131263 [Q9NVW2-1]
ENST00000349225; ENSP00000253571; ENSG00000131263 [Q9NVW2-1]
GeneIDi51132
KEGGihsa:51132
UCSCiuc004ebu.4 human [Q9NVW2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51132
DisGeNETi51132

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RLIM
HGNCiHGNC:13429 RLIM
HPAiHPA018895
MalaCardsiRLIM
MIMi300379 gene
300978 phenotype
neXtProtiNX_Q9NVW2
OpenTargetsiENSG00000131263
Orphaneti528084 Non-specific syndromic intellectual disability
PharmGKBiPA164725373

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0800 Eukaryota
ENOG41121N2 LUCA
GeneTreeiENSGT00940000155753
HOGENOMiHOG000273881
InParanoidiQ9NVW2
KOiK16271
OMAiNGSQNPE
OrthoDBi1487241at2759
PhylomeDBiQ9NVW2
TreeFamiTF325756

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RLIM human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RNF12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51132

Protein Ontology

More...
PROi
PR:Q9NVW2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131263 Expressed in 205 organ(s), highest expression level in forebrain
GenevisibleiQ9NVW2 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF13639 zf-RING_2, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
PROSITEiView protein in PROSITE
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRNF12_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NVW2
Secondary accession number(s): B2RBQ1
, D3DTE0, Q96D38, Q9Y598
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: April 3, 2007
Last modified: July 31, 2019
This is version 173 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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