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Aliases for ARRDC1 Gene

Aliases for ARRDC1 Gene

  • Arrestin Domain Containing 1 2 3 5
  • Alpha-Arrestin 1 2 4

External Ids for ARRDC1 Gene

Previous GeneCards Identifiers for ARRDC1 Gene

  • GC09P135718
  • GC09P137775
  • GC09P139619
  • GC09P140500
  • GC09P109962

Summaries for ARRDC1 Gene

GeneCards Summary for ARRDC1 Gene

ARRDC1 (Arrestin Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is ARRDC4.

UniProtKB/Swiss-Prot for ARRDC1 Gene

  • Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (PubMed:23886940, PubMed:27462458). Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles (PubMed:27462458). More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles (PubMed:22315426). By participating to the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway (PubMed:23886940).

Additional gene information for ARRDC1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARRDC1 Gene

Genomics for ARRDC1 Gene

GeneHancer (GH) Regulatory Elements for ARRDC1 Gene

Promoters and enhancers for ARRDC1 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
GH09I137604 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.3 1314 4.7 FOXA2 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GLIS2 ELK1 ZNF207 ARRDC1 ENSG00000283411 EHMT1 ZMYND19 MRPL41 ARRDC1-AS1 GC09M137538
GH09I137605 Enhancer 0.6 ENCODE dbSUPER 550.8 -1.1 -1136 0.2 KLF1 GLIS1 ARRDC1 ENSG00000283411 ZMYND19 GC09M137538
GH09I137694 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.9 +89.7 89669 1.4 NCOA3 GTF2F1 CTCF ESRRA MXI1 SAP130 ARID4B MAX RAD21 TEAD3 EHMT1 ARRDC1 ARRDC1-AS1 SETP5 GC09P137764 ENSG00000283411 GC09M137538
GH09I137627 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +23.8 23822 3.8 HDAC1 FOXA2 ETV1 MAX BMI1 RFX5 ZNF121 ZNF316 POLR2A RUNX3 EHMT1 ARRDC1 DPH7 ZMYND19 LOC651337 ANAPC2 NDOR1 ENSG00000274841 ENSG00000283411 GC09M137538
GH09I137632 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 +27.3 27251 1.8 INSM2 KLF17 MZF1 ZNF2 ZNF335 ZNF121 ZNF366 ZSCAN5C FOS EGR2 ZMYND19 ARRDC1 DPH7 EHMT1 ENSG00000274841 ENSG00000283411 GC09M137538
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARRDC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARRDC1 gene promoter:

Genomic Locations for ARRDC1 Gene

Genomic Locations for ARRDC1 Gene
chr9:137,605,640-137,615,360
(GRCh38/hg38)
Size:
9,721 bases
Orientation:
Plus strand
chr9:140,500,096-140,509,812
(GRCh37/hg19)

Genomic View for ARRDC1 Gene

Genes around ARRDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARRDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARRDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARRDC1 Gene

Proteins for ARRDC1 Gene

  • Protein details for ARRDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5I2-ARRD1_HUMAN
    Recommended name:
    Arrestin domain-containing protein 1
    Protein Accession:
    Q8N5I2

    Protein attributes for ARRDC1 Gene

    Size:
    433 amino acids
    Molecular mass:
    45981 Da
    Quaternary structure:
    • Interacts (via PPxY motifs) with ITCH (via WW domains); the interaction is direct and participates to the recruitment of the ubiquitin-protein ligase ITCH to the NOTCH1 receptor (PubMed:21191027, PubMed:23886940). Interacts with ARRB1 and ARRB2; the interaction is direct (PubMed:23886940). Interacts with TSG101; may recruit TSG101 to the plasma membrane (PubMed:21191027, PubMed:22315426). Interacts (via PPxY motifs) with WWP2 (via WW domains); ubiquitinates ARRDC1 (PubMed:21191027, PubMed:22315426). Interacts with SLC11A2; controls the incorporation of SLC11A2 into extracellular vesicles through an ubiquitination-dependent mechanism (PubMed:27462458). Interacts with WWP1 (via WW domains) (PubMed:21191027). Interacts with NEDD4 (via WW domains) (PubMed:21191027). Interacts with ALIX (PubMed:21191027).

neXtProt entry for ARRDC1 Gene

Post-translational modifications for ARRDC1 Gene

  • Ubiquitinated (PubMed:21191027, PubMed:22315426). Ubiquitination by WWP2; promotes localization to extracellular microvesicles (PubMed:22315426). Ubiquitinated by WWP1 (PubMed:21191027).

No data available for DME Specific Peptides for ARRDC1 Gene

Domains & Families for ARRDC1 Gene

Gene Families for ARRDC1 Gene

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

Protein Domains for ARRDC1 Gene

Suggested Antigen Peptide Sequences for ARRDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5I2

UniProtKB/Swiss-Prot:

ARRD1_HUMAN :
  • The PPxY motifs mediate interaction with WW domain-containing ubiquitin-protein ligases.
  • Belongs to the arrestin family.
Domain:
  • The PPxY motifs mediate interaction with WW domain-containing ubiquitin-protein ligases.
Family:
  • Belongs to the arrestin family.
genes like me logo Genes that share domains with ARRDC1: view

Function for ARRDC1 Gene

Molecular function for ARRDC1 Gene

UniProtKB/Swiss-Prot Function:
Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (PubMed:23886940, PubMed:27462458). Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles (PubMed:27462458). More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles (PubMed:22315426). By participating to the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway (PubMed:23886940).

Gene Ontology (GO) - Molecular Function for ARRDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22315426
GO:0031625 ubiquitin protein ligase binding IPI 22315426
GO:0042802 identical protein binding IPI 22315426
GO:1990756 protein binding, bridging involved in substrate recognition for ubiquitination IMP 27462458
GO:1990763 arrestin family protein binding IPI 23886940
genes like me logo Genes that share ontologies with ARRDC1: view
genes like me logo Genes that share phenotypes with ARRDC1: view

Animal Models for ARRDC1 Gene

MGI Knock Outs for ARRDC1:

Animal Model Products

miRNA for ARRDC1 Gene

miRTarBase miRNAs that target ARRDC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARRDC1 Gene

Localization for ARRDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARRDC1 Gene

Cell membrane. Note=Also found in extracellular vesicles different from exosomes. {ECO:0000269 PubMed:22315426, ECO:0000269 PubMed:27462458}.

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 ARRDC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARRDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IEA 22315426
GO:0016020 membrane IEA --
GO:0031410 cytoplasmic vesicle IDA 23236378
GO:0070062 NOT extracellular exosome IDA 22315426
GO:1903561 extracellular vesicle IDA 22315426
genes like me logo Genes that share ontologies with ARRDC1: view

Pathways & Interactions for ARRDC1 Gene

SuperPathways for ARRDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARRDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 NOT ubiquitin-dependent protein catabolic process IMP 27462458
GO:0006858 extracellular transport IMP 22315426
GO:0015031 protein transport IMP 27462458
GO:0016567 protein ubiquitination IMP 27462458
GO:0045746 negative regulation of Notch signaling pathway IMP 23886940
genes like me logo Genes that share ontologies with ARRDC1: view

No data available for Pathways by source and SIGNOR curated interactions for ARRDC1 Gene

Drugs & Compounds for ARRDC1 Gene

No Compound Related Data Available

Transcripts for ARRDC1 Gene

Unigene Clusters for ARRDC1 Gene

Arrestin domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARRDC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - -
SP8: - -
SP9:

Relevant External Links for ARRDC1 Gene

GeneLoc Exon Structure for
ARRDC1
ECgene alternative splicing isoforms for
ARRDC1

Expression for ARRDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARRDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARRDC1 Gene

This gene is overexpressed in Lung (25.1) and Urine (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARRDC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ARRDC1 Gene:

ARRDC1

SOURCE GeneReport for Unigene cluster for ARRDC1 Gene:

Hs.12999

Evidence on tissue expression from TISSUES for ARRDC1 Gene

  • Blood(4.3)
  • Liver(4.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with ARRDC1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARRDC1 Gene

Orthologs for ARRDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARRDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARRDC1 33 34
  • 97 (n)
dog
(Canis familiaris)
Mammalia ARRDC1 33 34
  • 86.54 (n)
cow
(Bos Taurus)
Mammalia ARRDC1 33 34
  • 86.4 (n)
mouse
(Mus musculus)
Mammalia Arrdc1 33 16 34
  • 84.19 (n)
rat
(Rattus norvegicus)
Mammalia Arrdc1 33
  • 83.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARRDC1 34
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARRDC1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARRDC1 33 34
  • 69.14 (n)
lizard
(Anolis carolinensis)
Reptilia ARRDC1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arrdc1 33
  • 67.39 (n)
zebrafish
(Danio rerio)
Actinopterygii arrdc1b 33 34
  • 59.37 (n)
arrdc1a 34
  • 41 (a)
OneToMany
sbcb786 33
fruit fly
(Drosophila melanogaster)
Insecta CG1105 34
  • 20 (a)
OneToMany
CG18747 34
  • 20 (a)
OneToMany
CG14696 34
  • 19 (a)
OneToMany
CG18748 34
  • 19 (a)
OneToMany
CG2993 34
  • 19 (a)
OneToMany
CG18745 34
  • 18 (a)
OneToMany
CG18746 34
  • 18 (a)
OneToMany
CG4674 34
  • 18 (a)
OneToMany
CG10086 34
  • 17 (a)
OneToMany
CG18744 34
  • 17 (a)
OneToMany
CG2641 34
  • 17 (a)
OneToMany
CG3014 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea arrd-8 34
  • 24 (a)
OneToMany
arrd-20 34
  • 22 (a)
OneToMany
arrd-24 34
  • 22 (a)
OneToMany
arrd-5 34
  • 21 (a)
OneToMany
arrd-14 34
  • 20 (a)
OneToMany
arrd-7 34
  • 20 (a)
OneToMany
arrd-17 34
  • 19 (a)
OneToMany
arrd-21 34
  • 19 (a)
OneToMany
arrd-19 34
  • 18 (a)
OneToMany
arrd-18 34
  • 17 (a)
OneToMany
arrd-22 34
  • 17 (a)
OneToMany
arrd-11 34
  • 16 (a)
OneToMany
arrd-13 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
-- 34
  • 24 (a)
OneToMany
Species where no ortholog for ARRDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ARRDC1 Gene

ENSEMBL:
Gene Tree for ARRDC1 (if available)
TreeFam:
Gene Tree for ARRDC1 (if available)

Paralogs for ARRDC1 Gene

Paralogs for ARRDC1 Gene

genes like me logo Genes that share paralogs with ARRDC1: view

Variants for ARRDC1 Gene

Sequence variations from dbSNP and Humsavar for ARRDC1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000134992 -- 137,615,336(+) G/A 3_prime_UTR_variant
rs1000427898 -- 137,613,166(+) G/A/T intron_variant
rs1000485847 -- 137,604,363(+) C/T upstream_transcript_variant
rs1000846912 -- 137,610,361(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000876389 -- 137,610,109(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARRDC1 Gene

Variant ID Type Subtype PubMed ID
nsv951212 CNV deletion 24416366
nsv831763 CNV loss 17160897
nsv831762 CNV loss 17160897
nsv616023 CNV loss 21841781
nsv1076229 CNV deletion 25765185
dgv4180n106 CNV deletion 24896259
dgv13012n54 CNV loss 21841781

Variation tolerance for ARRDC1 Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARRDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARRDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARRDC1 Gene

Disorders for ARRDC1 Gene

Additional Disease Information for ARRDC1

No disorders were found for ARRDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARRDC1 Gene

Publications for ARRDC1 Gene

  1. Α-arrestin 1 (ARRDC1) and β-arrestins cooperate to mediate Notch degradation in mammals. (PMID: 23886940) Puca L … Brou C (Journal of cell science 2013) 2 3 4 58
  2. Regulation of the divalent metal ion transporter via membrane budding. (PMID: 27462458) Mackenzie K … Kumar S (Cell discovery 2016) 3 4 58
  3. Formation and release of arrestin domain-containing protein 1-mediated microvesicles (ARMMs) at plasma membrane by recruitment of TSG101 protein. (PMID: 22315426) Nabhan JF … Lu Q (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 58
  4. Multiple interactions between the ESCRT machinery and arrestin-related proteins: implications for PPXY-dependent budding. (PMID: 21191027) Rauch S … Martin-Serrano J (Journal of virology 2011) 3 4 58
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58

Products for ARRDC1 Gene

Sources for ARRDC1 Gene

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