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    ARRDC5 arrestin domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 645432, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARRDC5provided by HGNC
    Official Full Name
    arrestin domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:31407
    See related
    Ensembl:ENSG00000205784 MIM:620944; AllianceGenome:HGNC:31407
    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
    Predicted to be involved in protein transport. Predicted to be active in endosome and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 6.0), spleen (RPKM 1.1) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARRDC5 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4890437..4916820, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4875655..4902266, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4890449..4902908, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13785 Neighboring gene TIR domain containing adaptor molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4866939-4867439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9909 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1096 Neighboring gene perilipin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4877563-4878446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4878447-4879328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4887083-4888076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4890817-4891318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4891319-4891818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4908546-4909452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4923227-4923955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4930593-4931092 Neighboring gene ubiquitin like with PHD and ring finger domains 1 Neighboring gene microRNA 4747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4983945-4984871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4988552-4989057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4989058-4989562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4989779-4990280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4990281-4990780 Neighboring gene Sharpr-MPRA regulatory region 13405 Neighboring gene lysine demethylase 4B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5004333-5004833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5026529-5027028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5036688-5037262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5042227-5042746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5042747-5043265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5046625-5047428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5048922-5049524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5052015-5052514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5083429-5084111 Neighboring gene Sharpr-MPRA regulatory region 3293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5092687-5093236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5093237-5093784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5095749-5096249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5096260-5096760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5096761-5097261 Neighboring gene Sharpr-MPRA regulatory region 7356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5109710-5110566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5111029-5111538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5114178-5115133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5115134-5116088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5121454-5121994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5125360-5125896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5125897-5126434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5126435-5126971 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5126972-5127509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5128585-5129120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5129121-5129658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5129659-5130195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5130196-5130732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5130733-5131269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5137253-5137754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5137755-5138254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5151275-5152046

    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 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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    GeneRIFs: Gene References Into Functions

    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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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    arrestin domain-containing protein 5

    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_001080523.3 → NP_001073992.2  arrestin domain-containing protein 5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate in-frame splice site in the 5'-CDS, compared to variant 1. It encodes isoform 2, which has the same N- and C- termini, but is shorter, compared to isoform 1.
      Source sequence(s)
      AC027319
      Consensus CDS
      CCDS45929.2
      UniProtKB/Swiss-Prot
      A6NEK1
      UniProtKB/TrEMBL
      A0A494BZV3
      Related
      ENSP00000498235.1, ENST00000650722.2
      Conserved Domains (2) summary
      pfam02752
      Location:170 → 304
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:13 → 124
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    2. NM_001367189.2 → NP_001354118.1  arrestin domain-containing protein 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC027319
      UniProtKB/Swiss-Prot
      A6NEK1
      Related
      ENSP00000520693.1, ENST00000718248.1
      Conserved Domains (2) summary
      pfam02752
      Location:192 → 326
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:13 → 146
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4890437..4916820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528181.3 → XP_011526483.1  arrestin domain-containing protein 5 isoform X1

      See identical proteins and their annotated locations for XP_011526483.1

      Conserved Domains (1) summary
      pfam02752
      Location:46 → 180
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain

    2. XM_047439220.1 → XP_047295176.1  arrestin domain-containing protein 5 isoform X1

    3. XM_047439221.1 → XP_047295177.1  arrestin domain-containing protein 5 isoform X2

    4. XM_005259616.3 → XP_005259673.1  arrestin domain-containing protein 5 isoform X1

      See identical proteins and their annotated locations for XP_005259673.1

      Conserved Domains (1) summary
      pfam02752
      Location:46 → 180
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4875655..4902266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321769.1 → XP_054177744.1  arrestin domain-containing protein 5 isoform X1

    2. XM_054321767.1 → XP_054177742.1  arrestin domain-containing protein 5 isoform X1

    3. XM_054321770.1 → XP_054177745.1  arrestin domain-containing protein 5 isoform X2

    4. XM_054321768.1 → XP_054177743.1  arrestin domain-containing protein 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NEK1.2 GenPept UniProtKB/Swiss-Prot:A6NEK1

    Gene LinkOut

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

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