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

Gene ID: 9870, updated on 22-May-2022

Summary

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 transferase activity. Involved in negative regulation of apoptotic process; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
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

See AREL1 in Genome Data Viewer
Location:
14q24.3
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74661256..74713080, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68870372..68922179, complement)
105.20220307 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 FCF1 rRNA-processing protein Neighboring gene YLP motif containing 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
XP_005268301.1
XP_006720407.1
XP_011535717.1
XP_011535718.1
XP_047287973.1
XP_047287974.1
XP_047287975.1
XP_047287976.1

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_001039479.2NP_001034568.1  apoptosis-resistant E3 ubiquitin protein ligase 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
    O15033
    Related
    ENSP00000348714.4, ENST00000356357.9
    Conserved Domains (2) summary
    smart00119
    Location:486820
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    pfam00630
    Location:56154
    Filamin; Filamin/ABP280 repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005268244.4XP_005268301.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X5

    See identical proteins and their annotated locations for XP_005268301.1

    Related
    ENSP00000452101.1, ENST00000556202.5
    Conserved Domains (1) summary
    smart00119
    Location:325659
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
  2. XM_047432019.1XP_047287975.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X4

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

    See identical proteins and their annotated locations for XP_006720407.1

    Related
    ENSP00000504887.1, ENST00000681099.1
    Conserved Domains (2) summary
    smart00119
    Location:476810
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cl27659
    Location:56144
    Filamin; Filamin/ABP280 repeat
  4. XM_011537416.4XP_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:486760
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:464761
    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:56154
    Filamin; Filamin/ABP280 repeat
  5. XM_047432017.1XP_047287973.1  apoptosis-resistant E3 ubiquitin protein ligase 1 isoform X2

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

  7. XM_011537415.3XP_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
    O15033
    Related
    ENST00000680030.1
    Conserved Domains (2) summary
    smart00119
    Location:486820
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    pfam00630
    Location:56154
    Filamin; Filamin/ABP280 repeat
  8. XM_047432020.1XP_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)

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.