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

Gene ID: 9870, updated on 2-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
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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 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)

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

  • 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

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