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
  • Apoptosis-Resistant E3 Ubiquitin Protein Ligase 1 3 4
  • Fibrosis-Inducing E3 Ligase 1 2 3
  • FIEL1 2 3
  • EC 2.3.2.26 4
  • AREL1 5

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. Diseases associated with AREL1 include Colorectal Cancer, Hereditary Nonpolyposis, Type 7 and Lynch Syndrome. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HECW2.

UniProtKB/Swiss-Prot Summary 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 (PubMed:23479728). Modulates pulmonary inflammation by targeting SOCS2 for ubiquitination and subsequent degradation by the proteasome (PubMed:31578312).

Additional gene information for AREL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AREL1 Gene

Genomics for AREL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AREL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AREL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AREL1

Genomic Locations for AREL1 Gene

Genomic Locations for AREL1 Gene
chr14:74,653,437-74,713,118
(GRCh38/hg38)
Size:
59,682 bases
Orientation:
Minus strand
chr14:75,120,140-75,179,818
(GRCh37/hg19)
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:
    • Interacts with SOCS2.
    SequenceCaution:
    • Sequence=BAA20775.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AREL1 Gene

    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

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

Protein Domains for AREL1 Gene

InterPro:
Blocks:
  • HECT domain (Ubiquitin-protein ligase)
  • Regulator of chromosome condensation, RCC1
ProtoNet:

Suggested Antigen Peptide Sequences for AREL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55279 (B4DLA5_HUMAN)
  • Protein KIAA0317 (K0317_HUMAN)
genes like me logo Genes that share domains with AREL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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 (PubMed:23479728). Modulates pulmonary inflammation by targeting SOCS2 for ubiquitination and subsequent degradation by the proteasome (PubMed:31578312).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.26;.

Enzyme Numbers (IUBMB) for AREL1 Gene

Phenotypes From GWAS Catalog 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 IEA,IDA 23479728
GO:0005515 protein binding IPI 31578312
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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.

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
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for AREL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
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:0000209 protein polyubiquitination IBA 21873635
GO:0006511 ubiquitin-dependent protein catabolic process IEA,IDA 23479728
GO:0006915 apoptotic process IEA --
GO:0016567 protein ubiquitination IEA,IDA 31578312
GO:0043066 negative regulation of apoptotic process IBA,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

mRNA/cDNA for AREL1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AREL1

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

Expression for AREL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for AREL1 Gene



Protein tissue co-expression partners for AREL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AREL1 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia AREL1 30 31
  • 93.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AREL1 30 31
  • 92.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arel1 30
  • 91.9 (n)
Mouse
(Mus musculus)
Mammalia Arel1 30 17 31
  • 91.33 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 84 (a)
OneToMany
Chicken
(Gallus gallus)
Aves AREL1 31
  • 91 (a)
OneToOne
KIAA0317 30
  • 82.79 (n)
Lizard
(Anolis carolinensis)
Reptilia AREL1 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arel1 30
  • 67.46 (n)
Str.10388 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12564 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100332031 30
  • 73.52 (n)
AREL1 31
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009516 30
  • 53.79 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4238 30 31
  • 53.43 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.948 31
  • 42 (a)
OneToOne
Species where no ortholog for AREL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AREL1: view image

Paralogs for AREL1 Gene

(20) SIMAP similar genes for AREL1 Gene using alignment to 9 proteins:

  • AREL1_HUMAN
  • G3V245_HUMAN
  • G3V2B5_HUMAN
  • G3V506_HUMAN
  • G3V5P7_HUMAN
  • H0YJ67_HUMAN
  • H0YJ69_HUMAN
  • H0YJF1_HUMAN
  • H0YJK5_HUMAN
genes like me logo Genes that share paralogs with AREL1: view

Variants for AREL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AREL1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
801395 Uncertain Significance: not provided 75,048,464(-) AAAT/A INFRAME_DELETION
rs28756990 Benign/Likely Benign: Endometrial carcinoma; Hereditary nonpolyposis colorectal cancer type 7; MLH3-Related Lynch Syndrome; not provided 75,047,435(-) C/A MISSENSE_VARIANT
rs371610162 - p.Pro779Leu

Additional dbSNP identifiers (rs#s) for AREL1 Gene

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)

Additional Variant Information for AREL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AREL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AREL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer, hereditary nonpolyposis, type 7
  • hnpcc7
lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 1
peliosis hepatis
  • hepatic peliosis
- elite association - COSMIC cancer census association via MalaCards
Search AREL1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AREL1: view

No data available for 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
  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
  3. KIAA0317 regulates pulmonary inflammation through SOCS2 degradation. (PMID: 31578312) Lear TB … Chen BB (JCI insight 2019) 3 4
  4. 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
  5. 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

Products for AREL1 Gene

Sources for AREL1 Gene