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Aliases for AREL1 Gene

Aliases for AREL1 Gene

  • Apoptosis Resistant E3 Ubiquitin Protein Ligase 1 2 3 5
  • KIAA0317 2 3 4
  • Apoptosis-Resistant HECT-Type E3 Ubiquitin Transferase 1 3 4
  • Fibrosis-Inducing E3 Ligase 1 2 3
  • Apoptosis-Resistant E3 Ubiquitin Protein Ligase 1 3
  • EC 2.3.2.26 4
  • FIEL1 3

External Ids for AREL1 Gene

Previous HGNC Symbols for AREL1 Gene

  • KIAA0317

Previous GeneCards Identifiers for AREL1 Gene

  • GC14M075120

Summaries for AREL1 Gene

GeneCards Summary for AREL1 Gene

AREL1 (Apoptosis Resistant E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HUWE1.

UniProtKB/Swiss-Prot for AREL1 Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation.

Additional gene information for AREL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AREL1 Gene

Genomics for AREL1 Gene

Regulatory Elements for AREL1 Gene

Enhancers for AREL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H074670 0.7 ENCODE dbSUPER 21.2 +41.5 41466 2.1 JUND MAFK AREL1 FCF1 LTBP2 ENSG00000222604 YLPM1 SYNDIG1L DLST GC14M074665
GH14H074647 1.3 Ensembl ENCODE dbSUPER 11.1 +64.5 64491 3.1 ESRRA TAL1 FEZF1 ZIC2 TCF12 ZNF316 POLR2A FOXK2 NCOR1 ZNF600 FCF1 ELMSAN1 NEK9 LTBP2 ENSG00000258559 MLH3 ZNF410 AREL1 ABCD4 ENSG00000222604
GH14H074610 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +96.5 96532 11.8 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF143 FOS SP3 REST YLPM1 ELMSAN1 ZNF410 FCF1 ENSG00000222604 MLH3 SYNDIG1L FOS AREL1 PGF
GH14H074591 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.8 +116.9 116886 9.5 TFAP4 KLF1 SAP130 ZFP64 ZNF697 RELA ZFHX2 GLIS2 POLR2A IKZF2 PNMA1 DNAL1 LIN52 AREL1 NPC2 LTBP2 LOC101928352 ENSG00000258425
GH14H074684 0.9 Ensembl ENCODE 11.8 +28.4 28368 0.9 PKNOX1 HLF MAX REST RELA IKZF1 IKZF2 MYC RUNX3 DLST FCF1 ENSG00000222604 AREL1 LTBP2 SYNDIG1L GC14M074665
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AREL1 on UCSC Golden Path with GeneCards custom track

Promoters for AREL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000070780 215 1801 PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 YY1 ETS1 ELK1 ZNF143

Genomic Locations for AREL1 Gene

Genomic Locations for AREL1 Gene
chr14:74,653,437-74,713,115
(GRCh38/hg38)
Size:
59,679 bases
Orientation:
Minus strand
chr14:75,120,140-75,179,818
(GRCh37/hg19)

Genomic View for AREL1 Gene

Genes around AREL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AREL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AREL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AREL1 Gene

Proteins for AREL1 Gene

  • Protein details for AREL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15033-AREL1_HUMAN
    Recommended name:
    Apoptosis-resistant E3 ubiquitin protein ligase 1
    Protein Accession:
    O15033
    Secondary Accessions:
    • B4E2C7
    • Q7LDY1
    • Q8IYY9

    Protein attributes for AREL1 Gene

    Size:
    823 amino acids
    Molecular mass:
    94223 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA20775.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AREL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AREL1 Gene

Post-translational modifications for AREL1 Gene

  • Autoubiquitinated in vitro in the presence of E2 enzyme UBE2D1/UBCH5A.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AREL1 Gene

Domains & Families for AREL1 Gene

Gene Families for AREL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for AREL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AREL1: view

No data available for UniProtKB/Swiss-Prot for AREL1 Gene

Function for AREL1 Gene

Molecular function for AREL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation.

Enzyme Numbers (IUBMB) for AREL1 Gene

Gene Ontology (GO) - Molecular Function for AREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 23479728
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
genes like me logo Genes that share ontologies with AREL1: view
genes like me logo Genes that share phenotypes with AREL1: view

Animal Model Products

CRISPR Products

miRNA for AREL1 Gene

miRTarBase miRNAs that target AREL1

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AREL1 Gene

Localization for AREL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AREL1 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AREL1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 3
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 23479728
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AREL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AREL1 Gene

Pathways & Interactions for AREL1 Gene

genes like me logo Genes that share pathways with AREL1: view

UniProtKB/Swiss-Prot O15033-AREL1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for AREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 23479728
GO:0043066 negative regulation of apoptotic process IDA 23479728
genes like me logo Genes that share ontologies with AREL1: view

No data available for SIGNOR curated interactions for AREL1 Gene

Drugs & Compounds for AREL1 Gene

No Compound Related Data Available

Transcripts for AREL1 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for AREL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - - -
SP9: - - - - -
SP10: - -
SP11: -
SP12: -
SP13: - - - - - -
SP14: - - - - - - -
SP15:
SP16: - -
SP17: - - - -
SP18: - -

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31
SP1:
SP2: -
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for AREL1 Gene

GeneLoc Exon Structure for
AREL1
ECgene alternative splicing isoforms for
AREL1

Expression for AREL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AREL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AREL1 Gene

This gene is overexpressed in CD8 Tcells (35.6) and Retina (33.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AREL1 Gene



Protein tissue co-expression partners for AREL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AREL1 Gene:

AREL1

Evidence on tissue expression from TISSUES for AREL1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with AREL1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AREL1 Gene

Orthologs for AREL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AREL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AREL1 33 34
  • 99.68 (n)
oppossum
(Monodelphis domestica)
Mammalia AREL1 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AREL1 33 34
  • 93.07 (n)
cow
(Bos Taurus)
Mammalia AREL1 33 34
  • 92.51 (n)
rat
(Rattus norvegicus)
Mammalia Arel1 33
  • 91.9 (n)
mouse
(Mus musculus)
Mammalia Arel1 33 16 34
  • 91.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves AREL1 34
  • 91 (a)
OneToOne
KIAA0317 33
  • 82.79 (n)
lizard
(Anolis carolinensis)
Reptilia AREL1 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arel1 33
  • 67.46 (n)
Str.10388 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12564 33
zebrafish
(Danio rerio)
Actinopterygii LOC100332031 33
  • 73.52 (n)
AREL1 34
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009516 33
  • 53.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4238 33 34
  • 53.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.948 34
  • 42 (a)
OneToOne
Species where no ortholog for AREL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AREL1 Gene

ENSEMBL:
Gene Tree for AREL1 (if available)
TreeFam:
Gene Tree for AREL1 (if available)

Paralogs for AREL1 Gene

Paralogs for AREL1 Gene

genes like me logo Genes that share paralogs with AREL1: view

Variants for AREL1 Gene

Sequence variations from dbSNP and Humsavar for AREL1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000065189 -- 74,677,724(+) TCTCA(A/G)ACTCC intron-variant
rs1000124777 -- 74,712,467(+) GAAAA(A/G)AGCTA intron-variant, upstream-variant-2KB
rs1000147040 -- 74,684,280(+) GACCT(A/C)TTAAA intron-variant
rs1000153733 -- 74,686,758(+) TTGAG(A/G)AATGA intron-variant
rs1000237749 -- 74,673,543(+) GATAT(A/G)TTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AREL1 Gene

Variant ID Type Subtype PubMed ID
esv3634950 CNV gain 21293372
nsv832831 CNV loss 17160897
nsv832832 CNV gain+loss 17160897

Variation tolerance for AREL1 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AREL1 Gene

Human Gene Mutation Database (HGMD)
AREL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AREL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AREL1 Gene

Disorders for AREL1 Gene

Relevant External Links for AREL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AREL1

No disorders were found for AREL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AREL1 Gene

Publications for AREL1 Gene

  1. Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS. (PMID: 23479728) Kim JB … Shin DY (The Journal of biological chemistry 2013) 2 3 4 60
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 60
  3. Ubiquitin E3 ligase FIEL1 regulates fibrotic lung injury through SUMO-E3 ligase PIAS4. (PMID: 27162139) Lear T … Chen BB (The Journal of experimental medicine 2016) 2 3 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 60

Products for AREL1 Gene

Sources for AREL1 Gene

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