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    AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

    Gene ID: 9870, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AREL1provided by HGNC
    Official Full Name
    apoptosis resistant E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC:HGNC:20363
    See related
    Ensembl:ENSG00000119682 MIM:615380; AllianceGenome:HGNC:20363
    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
    Also known as
    FIEL1; KIAA0317
    Summary
    Enables ubiquitin protein ligase activity. Involved in negative regulation of apoptotic process; protein polyubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 15.1), thyroid (RPKM 12.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AREL1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74661256..74713080, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68870372..68922179, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75127959..75179783, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370567 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8729 Neighboring gene FCF1 rRNA-processing protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8730 Neighboring gene YLP motif containing 1

    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. Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patients. Rydbirk R, et al. Acta Neuropathol Commun, 2020 Mar 9. PMID 32151281, Free PMC Article
    2. Structural insights into a HECT-type E3 ligase AREL1 and its ubiquitination activities in vitro. Singh S, et al. J Biol Chem, 2019 Dec 27. PMID 31732561, Free PMC Article
    3. AREL1 resists the apoptosis induced by TGF-β by inhibiting SMAC in vascular endothelial cells. Li Y, et al. J Biochem Mol Toxicol, 2023 Oct. PMID 37522329
    4. KIAA0317 regulates SOCS1 stability to ameliorate colonic inflammation. Lockwood KC, et al. FEBS J, 2023 Aug. PMID 36938956, Free PMC Article
    5. KIAA0317 regulates pulmonary inflammation through SOCS2 degradation. Lear TB, et al. JCI Insight, 2019 Oct 3. PMID 31578312, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AREL1 resists the apoptosis induced by TGF-beta by inhibiting SMAC in vascular endothelial cells.
      Title: AREL1 resists the apoptosis induced by TGF-β by inhibiting SMAC in vascular endothelial cells.
    2. Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patients.
      Title: Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patients.
    3. The AREL1 HECT domain assembled Lys(33)-, Lys(48)-, and Lys(63)-linked polyubiquitin chains. E701A substitution in the AREL1 HECT domain substantially increased its autopolyubiquitination and SMAC ubiquitination activity, whereas deletion of the last three amino acids at the C terminus completely abrogated AREL1 autoubiquitination and reduced SMAC ubiquitination.
      Title: Structural insights into a HECT-type E3 ligase AREL1 and its ubiquitination activities in vitro.
    4. new protein isoform encoded by KIAA0317, termed fibrosis-inducing E3 ligase 1 (FIEL1), which potently stimulates the TGFbeta signaling pathway through the site-specific ubiquitination of PIAS4.
      Title: Ubiquitin E3 ligase FIEL1 regulates fibrotic lung injury through SUMO-E3 ligase PIAS4.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0317

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K11-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K33-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    apoptosis-resistant E3 ubiquitin protein ligase 1
    Names
    apoptosis-resistant HECT-type E3 ubiquitin transferase 1
    fibrosis-inducing E3 ligase 1
    NP_001034568.1
    NP_001397975.1
    XP_005268301.1
    XP_006720407.1
    XP_011535717.1
    XP_011535718.1
    XP_047287974.1
    XP_047287975.1
    XP_047287976.1
    XP_054233114.1
    XP_054233115.1
    XP_054233116.1
    XP_054233117.1
    XP_054233118.1
    XP_054233119.1
    XP_054233120.1

    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_001039479.2 → NP_001034568.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform 1

      See identical proteins and their annotated locations for NP_001034568.1

      Status: VALIDATED

      Source sequence(s)
      AB002315, AC007956, BC032944, BI459956
      Consensus CDS
      CCDS41971.1
      UniProtKB/Swiss-Prot
      B4E2C7, O15033, Q7LDY1, Q8IYY9
      Related
      ENSP00000348714.4, ENST00000356357.9
      Conserved Domains (2) summary
      smart00119
      Location:486 → 820
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      pfam00630
      Location:56 → 154
      Filamin; Filamin/ABP280 repeat

    2. NM_001411046.1 → NP_001397975.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC007956
      Consensus CDS
      CCDS91905.1
      UniProtKB/TrEMBL
      A0A7P0T811

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      74661256..74713080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268244.4 → XP_005268301.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X5

      See identical proteins and their annotated locations for XP_005268301.1

      UniProtKB/TrEMBL
      G3V506
      Related
      ENSP00000452101.1, ENST00000556202.5
      Conserved Domains (1) summary
      smart00119
      Location:325 → 659
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

    2. XM_047432019.1 → XP_047287975.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X4

    3. XM_006720344.4 → XP_006720407.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X2

      See identical proteins and their annotated locations for XP_006720407.1

      UniProtKB/TrEMBL
      A0A7P0T811
      Related
      ENSP00000504887.1, ENST00000681099.1
      Conserved Domains (2) summary
      smart00119
      Location:476 → 810
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cl27659
      Location:56 → 144
      Filamin; Filamin/ABP280 repeat

    4. XM_011537416.4 → XP_011535718.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X3

      See identical proteins and their annotated locations for XP_011535718.1

      Conserved Domains (3) summary
      smart00119
      Location:486 → 760
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:464 → 761
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam00630
      Location:56 → 154
      Filamin; Filamin/ABP280 repeat

    5. XM_047432018.1 → XP_047287974.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X3

    6. XM_011537415.3 → XP_011535717.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X1

      See identical proteins and their annotated locations for XP_011535717.1

      UniProtKB/Swiss-Prot
      B4E2C7, O15033, Q7LDY1, Q8IYY9
      Related
      ENST00000680030.1
      Conserved Domains (2) summary
      smart00119
      Location:486 → 820
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      pfam00630
      Location:56 → 154
      Filamin; Filamin/ABP280 repeat

    7. XM_047432020.1 → XP_047287976.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X6

      Related
      ENSP00000450557.1, ENST00000555330.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      68870372..68922179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377144.1 → XP_054233119.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X5

    2. XM_054377143.1 → XP_054233118.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X4

    3. XM_054377140.1 → XP_054233115.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T811

    4. XM_054377141.1 → XP_054233116.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X3

    5. XM_054377142.1 → XP_054233117.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X3

    6. XM_054377139.1 → XP_054233114.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2C7, O15033, Q7LDY1, Q8IYY9

    7. XM_054377145.1 → XP_054233120.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014821.2: Suppressed sequence

      Description
      NM_014821.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15033.3 GenPept UniProtKB/Swiss-Prot:O15033

    Gene LinkOut

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

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