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

Gene ID: 92714, updated on 11-Apr-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
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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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NEW Try the new Transcript table

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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