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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
  • EC 6.3.2.- 4

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 Immune System and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is WWP2.

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.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around AREL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AREL1 Gene

Chromosome:
14
Start:
74,653,437 bp from pter
End:
74,713,115 bp from pter
Size:
59,679 bases
Orientation:
Minus strand

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

Proteomics data for AREL1 Gene at MOPED

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

Suggested Antigen Peptide Sequences for AREL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15033

UniProtKB/Swiss-Prot:

AREL1_HUMAN :
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 1 filamin repeat.
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Similarity:
  • Contains 1 filamin repeat.
genes like me logo Genes that share domains with AREL1: view

No data available for Gene Families for AREL1 Gene

Function for AREL1 Gene

Molecular function for AREL1 Gene

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
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

miRNA for AREL1 Gene

miRTarBase miRNAs that target AREL1

No data available for 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.

Gene Ontology (GO) - Cellular Components for AREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 23479728
genes like me logo Genes that share ontologies with AREL1: view

No data available for Subcellular locations from COMPARTMENTS 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.

Interacting Proteins for AREL1 Gene

Gene Ontology (GO) - Biological Process for AREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
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

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 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, MOPED, and MaxQB for AREL1 Gene



genes like me logo Genes that share expression patterns with AREL1: view

Protein tissue co-expression partners for AREL1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia AREL1 35
  • 92.51 (n)
  • 97.08 (a)
AREL1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AREL1 35
  • 93.07 (n)
  • 97.98 (a)
AREL1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arel1 35
  • 91.33 (n)
  • 97.21 (a)
Arel1 16
Arel1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AREL1 35
  • 99.68 (n)
  • 99.76 (a)
AREL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arel1 35
  • 91.9 (n)
  • 97.69 (a)
oppossum
(Monodelphis domestica)
Mammalia AREL1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIAA0317 35
  • 82.79 (n)
  • 91.37 (a)
AREL1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AREL1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arel1 35
  • 67.46 (n)
  • 70.49 (a)
Str.10388 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.12564 35
zebrafish
(Danio rerio)
Actinopterygii LOC100332031 35
  • 73.52 (n)
  • 80.54 (a)
AREL1 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009516 35
  • 53.79 (n)
  • 50.46 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4238 35
  • 53.43 (n)
  • 51.82 (a)
CG4238 36
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.948 36
  • 42 (a)
OneToOne
Species with no ortholog for AREL1:
  • 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
rs9441 -- 74,661,722(-) CCAGT(C/T)TTTGT utr-variant-3-prime
rs16661 -- 74,661,613(+) AAAAA(A/C)AAAAC utr-variant-3-prime
rs7493409 -- 74,670,335(+) GAATC(A/T)TATAT intron-variant
rs8017229 -- 74,676,897(+) GCTCA(C/T)GCCAT intron-variant
rs7143215 -- 74,683,987(+) GTGGA(A/G)AAGTC intron-variant

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

HapMap Linkage Disequilibrium report
AREL1
Human Gene Mutation Database (HGMD)
AREL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 J.B. … Shin D.Y. (J. Biol. Chem. 2013) 2 3 4 67
  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 Res. 1997) 2 3
  3. Assembly and structure of Lys33-linked polyubiquitin reveals distinct conformations. (PMID: 25723849) Kristariyanto Y.A. … Kulathu Y. (Biochem. J. 2015) 3
  4. Assembly and specific recognition of k29- and k33-linked polyubiquitin. (PMID: 25752577) Michel M.A. … Komander D. (Mol. Cell 2015) 3
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3

Products for AREL1 Gene

Sources for AREL1 Gene

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