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    ARRDC1 arrestin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 92714, updated on 5-May-2024

    Summary

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    Official Symbol
    ARRDC1provided by HGNC
    Official Full Name
    arrestin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28633
    See related
    Ensembl:ENSG00000197070 MIM:619768; AllianceGenome:HGNC:28633
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables several functions, including arrestin family protein binding activity; ubiquitin ligase-substrate adaptor activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cellular protein metabolic process; extracellular vesicle biogenesis; and negative regulation of Notch signaling pathway. Located in cytoplasmic vesicle; extracellular vesicle; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in stomach (RPKM 15.2), spleen (RPKM 13.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137605686..137615360)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149857368..149867042)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140500138..140509812)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140482491-140483009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140483010-140483527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20633 Neighboring gene uncharacterized LOC124902318 Neighboring gene zinc finger MYND-type containing 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:140513865-140514583 Neighboring gene ARRDC1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29356 Neighboring gene Sharpr-MPRA regulatory region 6441 Neighboring gene euchromatic histone lysine methyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140558803-140559307 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140559363-140560044 Neighboring gene SET pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140569123-140569639 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:140573165-140573881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140574605-140575206 Neighboring gene uncharacterized LOC124902319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140575207-140575806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140576860-140577836

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MicroRNA miR-124-3p suppresses proliferation and epithelial-mesenchymal transition of hepatocellular carcinoma via ARRDC1 (arrestin domain containing 1). Zhao Q, et al. Bioengineered, 2022 Apr. PMID 35300565, Free PMC Article
    2. PAX5-activated lncRNA ARRDC1-AS1 accelerates the autophagy and progression of DLBCL through sponging miR-2355-5p to regulate ATG5. Xu H, et al. Life Sci, 2021 Dec 1. PMID 34499929
    3. Formation and release of arrestin domain-containing protein 1-mediated microvesicles (ARMMs) at plasma membrane by recruitment of TSG101 protein. Nabhan JF, et al. Proc Natl Acad Sci U S A, 2012 Mar 13. PMID 22315426, Free PMC Article
    4. The arrestin domain-containing 3 protein regulates body mass and energy expenditure. Patwari P, et al. Cell Metab, 2011 Nov 2. PMID 21982743, Free PMC Article
    5. Regulation of the divalent metal ion transporter via membrane budding. Mackenzie K, et al. Cell Discov, 2016. PMID 27462458, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNA miR-124-3p suppresses proliferation and epithelial-mesenchymal transition of hepatocellular carcinoma via ARRDC1 (arrestin domain containing 1).
      Title: MicroRNA miR-124-3p suppresses proliferation and epithelial-mesenchymal transition of hepatocellular carcinoma via ARRDC1 (arrestin domain containing 1).
    2. PAX5-activated lncRNA ARRDC1-AS1 accelerates the autophagy and progression of DLBCL through sponging miR-2355-5p to regulate ATG5.
      Title: PAX5-activated lncRNA ARRDC1-AS1 accelerates the autophagy and progression of DLBCL through sponging miR-2355-5p to regulate ATG5.
    3. The authors show that WWP1 changes the ubiquitination status of ARRDC1, suggesting that the arrestins may provide a platform for ubiquitination in PPXY-dependent budding.
      Title: Multiple interactions between the ESCRT machinery and arrestin-related proteins: implications for PPXY-dependent budding.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40555

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arrestin family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-like ligase-substrate adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in extracellular transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in extracellular vesicle biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    NOT located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arrestin domain-containing protein 1
    Names
    alpha-arrestin 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001317968.2 → NP_001304897.1  arrestin domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) retains an intron in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA552336, AK001822, AK308376, AL365502, BI906381
      Conserved Domains (2) summary
      pfam02752
      Location:162 → 283
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:7 → 139
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    2. NM_152285.4 → NP_689498.1  arrestin domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_689498.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AA552336, BC032346
      Consensus CDS
      CCDS7049.1
      UniProtKB/Swiss-Prot
      Q8N5I2
      Related
      ENSP00000360475.4, ENST00000371421.9
      Conserved Domains (3) summary
      pfam02752
      Location:162 → 284
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:7 → 139
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain
      cl26464
      Location:290 → 428
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137605686..137615360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266119.2 → XP_005266176.1  arrestin domain-containing protein 1 isoform X2

      Conserved Domains (2) summary
      pfam02752
      Location:179 → 300
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:7 → 139
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    2. XM_047424069.1 → XP_047280025.1  arrestin domain-containing protein 1 isoform X4

    3. XM_006717320.5 → XP_006717383.1  arrestin domain-containing protein 1 isoform X1

      Conserved Domains (2) summary
      pfam02752
      Location:186 → 307
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:70 → 146
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    4. XM_006717321.5 → XP_006717384.1  arrestin domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      pfam02752
      Location:186 → 307
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:70 → 146
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    5. XM_006717322.5 → XP_006717385.1  arrestin domain-containing protein 1 isoform X5

      Conserved Domains (2) summary
      pfam02752
      Location:169 → 290
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:70 → 146
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    6. XM_017015288.3 → XP_016870777.1  arrestin domain-containing protein 1 isoform X6

      Conserved Domains (2) summary
      pfam02752
      Location:169 → 290
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:70 → 146
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149857368..149867042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364159.1 → XP_054220134.1  arrestin domain-containing protein 1 isoform X2

    2. XM_054364161.1 → XP_054220136.1  arrestin domain-containing protein 1 isoform X4

    3. XM_054364158.1 → XP_054220133.1  arrestin domain-containing protein 1 isoform X1

    4. XM_054364160.1 → XP_054220135.1  arrestin domain-containing protein 1 isoform X3

    5. XM_054364162.1 → XP_054220137.1  arrestin domain-containing protein 1 isoform X5

    6. XM_054364163.1 → XP_054220138.1  arrestin domain-containing protein 1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5I2.1 GenPept UniProtKB/Swiss-Prot:Q8N5I2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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