RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008] See more...

Aliases for RNF181 Gene

Aliases for RNF181 Gene

  • Ring Finger Protein 181 2 3 5
  • RING-Type E3 Ubiquitin Transferase RNF181 3 4
  • E3 Ubiquitin-Protein Ligase RNF181 3 4
  • RING Finger Protein 181 4
  • EC 2.3.2.27 4
  • HSPC238 3

External Ids for RNF181 Gene

Previous GeneCards Identifiers for RNF181 Gene

  • GC02P085676
  • GC02P085822
  • GC02P085719
  • GC02P085606
  • GC02P085609
  • GC02P085629
  • GC02P085632
  • GC02P085634
  • GC02P085611
  • GC02P085613
  • GC02P085615
  • GC02P085617
  • GC02P085621
  • GC02P085623
  • GC02P085625
  • GC02P085627

Summaries for RNF181 Gene

Entrez Gene Summary for RNF181 Gene

  • RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]

GeneCards Summary for RNF181 Gene

RNF181 (Ring Finger Protein 181) is a Protein Coding gene. Diseases associated with RNF181 include Deafness, Autosomal Recessive 88. Among its related pathways are Metabolism of proteins and Protein ubiquitination. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is RNF115.

UniProtKB/Swiss-Prot Summary for RNF181 Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Additional gene information for RNF181 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF181 Gene

Genomics for RNF181 Gene

GeneHancer (GH) Regulatory Elements for RNF181 Gene

Promoters and enhancers for RNF181 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J085594 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 505.5 +0.6 622 3.7 FOXK2 ZBTB40 ZNF217 SIN3A POLR2G USF1 SP1 GTF2E2 PHF8 ZFX RNF181 lnc-TMEM150A-4 USP39 VAMP8 GGCX VAMP5
GH02J085582 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 -10.4 -10436 3.9 FOXK2 ZNF217 POLR2G NCOR1 JUND FOS PHB2 ZNF10 KDM6A ZNF263 VAMP5 NONHSAG028389.2 SNORD94 ELMOD3 USP39 C2orf68 GGCX ENSG00000246575 ENSG00000228363 TCF7L1
GH02J085587 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -5.4 -5441 5.2 NCOR1 FOS ZFX TCF7 FOXA1 REST HES1 ZBTB25 TOE1 MYC GGCX VAMP8 C2orf68 USP39 CHMP3 VAMP5 RNF181 NONHSAG028389.2 lnc-TMEM150A-4
GH02J085593 Enhancer 0.9 Ensembl ENCODE 0.7 -2.1 -2067 0.4 ZBTB26 CTCF SAP130 MXD4 GABPB1 SMAD4 MYC RARA THAP11 HNF4A USP39 VAMP5 RNF181 lnc-TMEM150A-4 NONHSAG028389.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF181 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF181

Top Transcription factor binding sites by QIAGEN in the RNF181 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • E2F
  • E2F-1
  • E47
  • FosB
  • FOXC1
  • Msx-1
  • Nkx2-5

Genomic Locations for RNF181 Gene

Genomic Locations for RNF181 Gene
chr2:85,595,268-85,597,708
(GRCh38/hg38)
Size:
2,441 bases
Orientation:
Plus strand
chr2:85,822,837-85,824,831
(GRCh37/hg19)
Size:
1,995 bases
Orientation:
Plus strand

Genomic View for RNF181 Gene

Genes around RNF181 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF181 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF181 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF181 Gene

Proteins for RNF181 Gene

  • Protein details for RNF181 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0P0-RN181_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF181
    Protein Accession:
    Q9P0P0
    Secondary Accessions:
    • Q53H81

    Protein attributes for RNF181 Gene

    Size:
    153 amino acids
    Molecular mass:
    17909 Da
    Quaternary structure:
    • Directly interacts with ITGA2B and, as a result, with integrin ITGA2B/ITGB3. There is no evidence that integrin ITGA2B/ITGB3 is an endogenous substrate for RNF181-directed ubiquitination.

neXtProt entry for RNF181 Gene

Post-translational modifications for RNF181 Gene

Other Protein References for RNF181 Gene

No data available for DME Specific Peptides for RNF181 Gene

Domains & Families for RNF181 Gene

Gene Families for RNF181 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RNF181 Gene

Blocks:
  • Zn-finger, RING
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNF181 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 181 (RN181_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P0P0

UniProtKB/Swiss-Prot:

RN181_HUMAN :
  • Belongs to the RNF181 family.
Family:
  • Belongs to the RNF181 family.
genes like me logo Genes that share domains with RNF181: view

Function for RNF181 Gene

Molecular function for RNF181 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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;.

Enzyme Numbers (IUBMB) for RNF181 Gene

Phenotypes From GWAS Catalog for RNF181 Gene

Gene Ontology (GO) - Molecular Function for RNF181 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 24105792
GO:0005515 protein binding IPI 19690564
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA,EXP 21873635
genes like me logo Genes that share ontologies with RNF181: view
genes like me logo Genes that share phenotypes with RNF181: view

Animal Model Products

CRISPR Products

miRNA for RNF181 Gene

miRTarBase miRNAs that target RNF181

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF181

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF181 Gene

Localization for RNF181 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF181 gene
Compartment Confidence
cytosol 3
extracellular 2
nucleus 2
plasma membrane 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RNF181 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS --
genes like me logo Genes that share ontologies with RNF181: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RNF181 Gene

Pathways & Interactions for RNF181 Gene

genes like me logo Genes that share pathways with RNF181: view

UniProtKB/Swiss-Prot Q9P0P0-RN181_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF181 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IBA,TAS --
GO:0051865 protein autoubiquitination IDA 24105792
genes like me logo Genes that share ontologies with RNF181: view

No data available for SIGNOR curated interactions for RNF181 Gene

Drugs & Compounds for RNF181 Gene

No Compound Related Data Available

Transcripts for RNF181 Gene

mRNA/cDNA for RNF181 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF181

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF181 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7:
SP8:

Relevant External Links for RNF181 Gene

GeneLoc Exon Structure for
RNF181

Expression for RNF181 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF181 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF181 Gene

This gene is overexpressed in Heart (33.6) and Bone (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNF181 Gene



Protein tissue co-expression partners for RNF181 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF181

SOURCE GeneReport for Unigene cluster for RNF181 Gene:

Hs.356187

mRNA Expression by UniProt/SwissProt for RNF181 Gene:

Q9P0P0-RN181_HUMAN
Tissue specificity: Widely expressed, with highest levels in liver and heart and lowest levels in brain and skeletal muscle. Expressed in platelets (at protein level).

Evidence on tissue expression from TISSUES for RNF181 Gene

  • Nervous system(4.6)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with RNF181: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF181 Gene

Orthologs for RNF181 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF181 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF181 31 30
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNF181 31 30
  • 91.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNF181 31 30
  • 91.72 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf181 30
  • 87.06 (n)
mouse
(Mus musculus)
Mammalia Rnf181 17 31 30
  • 86.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF181 31
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF181 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf181 30
  • 65.35 (n)
Str.2943 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33490 30
zebrafish
(Danio rerio)
Actinopterygii rnf181 31 30
  • 63.83 (n)
OneToOne
zgc56424 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7783 30
fruit fly
(Drosophila melanogaster)
Insecta CG7694 31
  • 37 (a)
OneToOne
Species where no ortholog for RNF181 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF181 Gene

ENSEMBL:
Gene Tree for RNF181 (if available)
TreeFam:
Gene Tree for RNF181 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF181: view image

Paralogs for RNF181 Gene

Paralogs for RNF181 Gene

(7) SIMAP similar genes for RNF181 Gene using alignment to 6 proteins:

  • RN181_HUMAN
  • C9J1C6_HUMAN
  • C9J391_HUMAN
  • F8WBU5_HUMAN
  • H7C426_HUMAN
  • L8EAW4_HUMAN

Pseudogenes.org Pseudogenes for RNF181 Gene

genes like me logo Genes that share paralogs with RNF181: view

Variants for RNF181 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF181 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
750792 Likely Benign: not provided 85,597,489(+) AG/A FRAMESHIFT_VARIANT
rs6643 - p.Tyr118His

Additional dbSNP identifiers (rs#s) for RNF181 Gene

Structural Variations from Database of Genomic Variants (DGV) for RNF181 Gene

Variant ID Type Subtype PubMed ID
esv992753 CNV deletion 20482838

Variation tolerance for RNF181 Gene

Residual Variation Intolerance Score: 74.5% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF181 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF181

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF181 Gene

Disorders for RNF181 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF181 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 88
  • dfnb88
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF181

genes like me logo Genes that share disorders with RNF181: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF181 Gene

Publications for RNF181 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 54
  2. RN181, a novel ubiquitin E3 ligase that interacts with the KVGFFKR motif of platelet integrin alpha(IIb)beta3. (PMID: 18331836) Brophy TM … Moran N (Biochemical and biophysical research communications 2008) 3 4 54
  3. Insights into the ubiquitin-proteasome system of human embryonic stem cells. (PMID: 29511261) Saez I … Vilchez D (Scientific reports 2018) 3 54
  4. Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity. (PMID: 29643511) Pao KC … Virdee S (Nature 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for RNF181 Gene

Sources for RNF181 Gene