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Aliases for ARIH1 Gene

Aliases for ARIH1 Gene

  • Ariadne RBR E3 Ubiquitin Protein Ligase 1 2 3 5
  • Ubiquitin-Conjugating Enzyme E2-Binding Protein 1 3 4
  • Ariadne, Drosophila, Homolog Of 2 3
  • Protein Ariadne-1 Homolog 3 4
  • UbcM4-Interacting Protein 3 4
  • UbcH7-Binding Protein 3 4
  • Monocyte Protein 6 3 4
  • UBCH7BP 3 4
  • H7-AP2 3 4
  • ARI-1 3 4
  • HHARI 3 4
  • MOP-6 3 4
  • ARI 3 4
  • Ariadne (Drosophila) Homolog, Ubiquitin-Conjugating Enzyme E2-Binding Protein, 1 2
  • Ariadne Homolog, Ubiquitin-Conjugating Enzyme E2 Binding Protein, 1 (Drosophila) 2
  • Ariadne Homolog, Ubiquitin-Conjugating Enzyme E2 Binding Protein, 1 3
  • E3 Ubiquitin-Protein Ligase ARIH1 3
  • EC 2.3.2.31 4
  • HARI 3
  • MOP6 4

External Ids for ARIH1 Gene

Previous GeneCards Identifiers for ARIH1 Gene

  • GC15P068568
  • GC15P065871
  • GC15P070342
  • GC15P070482
  • GC15P070553
  • GC15P072766
  • GC15P049597

Summaries for ARIH1 Gene

GeneCards Summary for ARIH1 Gene

ARIH1 (Ariadne RBR E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with ARIH1 include Apnea, Obstructive Sleep and Sleep Disorder. Among its related pathways are Transport of the SLBP independent Mature mRNA and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is ARIH2.

UniProtKB/Swiss-Prot for ARIH1 Gene

  • E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:15236971, PubMed:21532592, PubMed:24076655, PubMed:27565346, PubMed:23707686). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-RING ubiquitin ligase (CRL) complexes and initiating ubiquitination of CRL substrates: associates with CRL complexes and specifically mediates addition of the first ubiquitin on CRLs targets (PubMed:27565346). The initial ubiquitin is then elongated by CDC34/UBE2R1 and UBE2R2 (PubMed:27565346). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated cullin-RING ubiquitin ligase complexes (PubMed:24076655, PubMed:27565346). Plays a role in protein translation in response to DNA damage by mediating ubiquitination of EIF4E2, the consequences of EIF4E2 ubiquitination are however unclear (PubMed:25624349). According to a report, EIF4E2 ubiquitination leads to promote EIF4E2 cap-binding and protein translation arrest (PubMed:25624349). According to another report EIF4E2 ubiquitination leads to its subsequent degradation (PubMed:14623119). Acts as the ligase involved in ISGylation of EIF4E2 (PubMed:17289916).

Gene Wiki entry for ARIH1 Gene

Additional gene information for ARIH1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARIH1 Gene

Genomics for ARIH1 Gene

GeneHancer (GH) Regulatory Elements for ARIH1 Gene

Promoters and enhancers for ARIH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J072471 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 704.6 -0.3 -321 5.6 CLOCK MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ARIH1 TMEM202-AS1 ENSG00000261187 HEXA PARP6 LOC105370887 BBS4 MYO9A ENSG00000260672 CELF6
GH15J072225 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 76.4 -245.0 -245030 8 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PKM LOC105370887 ENSG00000261187 HEXA TMEM202-AS1 ARIH1 MYO9A ADPGK CELF6 RPL17P39
GH15J072374 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 27.4 -98.0 -98022 3.3 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 HEXA ENSG00000260729 HEXA-AS1 ENSG00000261187 MYO9A ARIH1 LOC105370887 TMEM202-AS1 TMEM202 BBS4
GH15J072116 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 19.3 -356.1 -356102 4 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 MYO9A SENP8 ENSG00000261187 CELF6 PARP6 RPL17P39 BBS4 ARIH1 TMEM202-AS1 ENSG00000260672
GH15J072781 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.1 +310.4 310396 5.6 CLOCK MLX ZFP64 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ADPGK ADPGK-AS1 ENSG00000261187 MYO9A BBS4 HEXA PARP6 LOC105370887 ARIH1 TMEM202
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARIH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARIH1 gene promoter:
  • Sp1
  • RFX1
  • CREB
  • deltaCREB
  • C/EBPbeta
  • Pax-4a
  • ER-alpha
  • p300
  • Bach1
  • E2F-1

Genomic Locations for ARIH1 Gene

Genomic Locations for ARIH1 Gene
chr15:72,474,282-72,602,985
(GRCh38/hg38)
Size:
128,704 bases
Orientation:
Plus strand
chr15:72,766,667-72,879,692
(GRCh37/hg19)
Size:
113,026 bases
Orientation:
Plus strand

Genomic View for ARIH1 Gene

Genes around ARIH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARIH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARIH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARIH1 Gene

Proteins for ARIH1 Gene

  • Protein details for ARIH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4X5-ARI1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase ARIH1
    Protein Accession:
    Q9Y4X5
    Secondary Accessions:
    • B2R6U3
    • O76026
    • Q9H3T6
    • Q9UEN0
    • Q9UP39

    Protein attributes for ARIH1 Gene

    Size:
    557 amino acids
    Molecular mass:
    64118 Da
    Quaternary structure:
    • Interacts (via the first RING-type zinc finger) with UBE2L3 (PubMed:11278816, PubMed:21532592, PubMed:24076655, PubMed:23707686). Associates with cullin-RING ubiquitin ligase (CRL) complexes containing CUL1, CUL2 and CUL3 (PubMed:24076655, PubMed:27565346). Interacts with neddylated CUL1 (PubMed:24076655, PubMed:27565346). Interacts with neddylated CUL2 (PubMed:24076655, PubMed:27565346). Interacts with neddylated CUL3 (PubMed:24076655, PubMed:27565346). Interacts with neddylated CUL4A (PubMed:24076655).

    Three dimensional structures from OCA and Proteopedia for ARIH1 Gene

neXtProt entry for ARIH1 Gene

Post-translational modifications for ARIH1 Gene

  • Ubiquitination at Lys286, posLast=156156, and posLast=144144
  • Modification sites at PhosphoSitePlus

Other Protein References for ARIH1 Gene

No data available for DME Specific Peptides for ARIH1 Gene

Domains & Families for ARIH1 Gene

Gene Families for ARIH1 Gene

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

Protein Domains for ARIH1 Gene

Suggested Antigen Peptide Sequences for ARIH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4X5

UniProtKB/Swiss-Prot:

ARI1_HUMAN :
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING-type zinc finger, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved active site Cys residue in the second RING-type zinc finger (PubMed:21532592, PubMed:23707686). The active site probably forms a thioester intermediate with ubiquitin taken from the active-site cysteine of the E2 before ultimately transferring it to a Lys residue on the substrate (PubMed:21532592, PubMed:23707686).
  • Belongs to the RBR family. Ariadne subfamily.
Domain:
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING-type zinc finger, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved active site Cys residue in the second RING-type zinc finger (PubMed:21532592, PubMed:23707686). The active site probably forms a thioester intermediate with ubiquitin taken from the active-site cysteine of the E2 before ultimately transferring it to a Lys residue on the substrate (PubMed:21532592, PubMed:23707686).
  • The Ariadne domain inhibits activity by masking the second RING-type zinc finger that contains the active site (PubMed:23707686).
Family:
  • Belongs to the RBR family. Ariadne subfamily.
genes like me logo Genes that share domains with ARIH1: view

Function for ARIH1 Gene

Molecular function for ARIH1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:15236971, PubMed:21532592, PubMed:24076655, PubMed:27565346, PubMed:23707686). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-RING ubiquitin ligase (CRL) complexes and initiating ubiquitination of CRL substrates: associates with CRL complexes and specifically mediates addition of the first ubiquitin on CRLs targets (PubMed:27565346). The initial ubiquitin is then elongated by CDC34/UBE2R1 and UBE2R2 (PubMed:27565346). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated cullin-RING ubiquitin ligase complexes (PubMed:24076655, PubMed:27565346). Plays a role in protein translation in response to DNA damage by mediating ubiquitination of EIF4E2, the consequences of EIF4E2 ubiquitination are however unclear (PubMed:25624349). According to a report, EIF4E2 ubiquitination leads to promote EIF4E2 cap-binding and protein translation arrest (PubMed:25624349). According to another report EIF4E2 ubiquitination leads to its subsequent degradation (PubMed:14623119). Acts as the ligase involved in ISGylation of EIF4E2 (PubMed:17289916).
UniProtKB/Swiss-Prot CatalyticActivity:
[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Autoinhibited by the ariadne domain, which masks the second RING-type zinc finger that contains the active site and inhibits the E3 activity (PubMed:23707686). Inhibition is relieved upon binding to neddylated cullin-RING ubiquitin ligase complexes, which activate the E3 ligase activity of ARIH1 (PubMed:24076655, PubMed:27565346).
UniProtKB/Swiss-Prot Induction:
Up-regulated following DNA damage (PubMed:25624349).

Enzyme Numbers (IUBMB) for ARIH1 Gene

Phenotypes From GWAS Catalog for ARIH1 Gene

Gene Ontology (GO) - Molecular Function for ARIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA,TAS --
GO:0005515 protein binding IPI 10521492
GO:0008270 zinc ion binding IDA 15236971
GO:0016740 transferase activity IEA --
GO:0019787 ubiquitin-like protein transferase activity TAS 10521492
genes like me logo Genes that share ontologies with ARIH1: view
genes like me logo Genes that share phenotypes with ARIH1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ARIH1

CRISPR Products

miRNA for ARIH1 Gene

miRTarBase miRNAs that target ARIH1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARIH1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARIH1 Gene

Localization for ARIH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARIH1 Gene

Cytoplasm. Nucleus. Nucleus, Cajal body. Note=Mainly cytoplasmic (PubMed:11278816). Present in Lewy body (PubMed:21590270). {ECO:0000269 PubMed:11278816, ECO:0000269 PubMed:21590270}.

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 ARIH1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex TAS 10521492
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 11278816
GO:0005829 cytosol TAS --
GO:0015030 Cajal body IEA --
genes like me logo Genes that share ontologies with ARIH1: view

Pathways & Interactions for ARIH1 Gene

genes like me logo Genes that share pathways with ARIH1: view

UniProtKB/Swiss-Prot Q9Y4X5-ARI1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ARIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA --
GO:0006511 ubiquitin-dependent protein catabolic process TAS,IEA 10521492
GO:0016567 protein ubiquitination IDA,IEA 14623119
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with ARIH1: view

No data available for SIGNOR curated interactions for ARIH1 Gene

Drugs & Compounds for ARIH1 Gene

No Compound Related Data Available

Transcripts for ARIH1 Gene

mRNA/cDNA for ARIH1 Gene

Unigene Clusters for ARIH1 Gene

Ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARIH1

Alternative Splicing Database (ASD) splice patterns (SP) for ARIH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b
SP1: - - - -
SP2: -
SP3: -
SP4:

Relevant External Links for ARIH1 Gene

GeneLoc Exon Structure for
ARIH1
ECgene alternative splicing isoforms for
ARIH1

Expression for ARIH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARIH1 Gene

Protein differential expression in normal tissues from HIPED for ARIH1 Gene

This gene is overexpressed in Lung (14.4) and Peripheral blood mononuclear cells (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARIH1 Gene



Protein tissue co-expression partners for ARIH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARIH1 Gene:

ARIH1

SOURCE GeneReport for Unigene cluster for ARIH1 Gene:

Hs.268787

mRNA Expression by UniProt/SwissProt for ARIH1 Gene:

Q9Y4X5-ARI1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for ARIH1 Gene

  • Nervous system(4.6)
  • Blood(4.4)
  • Heart(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with ARIH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARIH1 Gene

Orthologs for ARIH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ARIH1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia ARIH1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARIH1 34 33
  • 99.94 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARIH1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARIH1 34 33
  • 96.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARIH1 34 33
  • 96.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arih1 33
  • 95.86 (n)
mouse
(Mus musculus)
Mammalia Arih1 16 34 33
  • 95.56 (n)
chicken
(Gallus gallus)
Aves ARIH1 34 33
  • 90.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARIH1 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arih1 33
  • 81.03 (n)
Str.5440 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16641 33
zebrafish
(Danio rerio)
Actinopterygii arih1l 34
  • 92 (a)
OneToMany
arih1 34 33
  • 82.73 (n)
OneToMany
wufa18d01 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010891 33
  • 66.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta ari-1 34 35 33
  • 65.72 (n)
OneToMany
CG12362 34 35
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C27A12.8 35
  • 55 (a)
ari-1 34
  • 53 (a)
OneToMany
C27A12.6 34 35
  • 48 (a)
OneToMany
C27A12.7 34
  • 48 (a)
OneToMany
Y73F8A.34 35
  • 47 (a)
tag-349 34
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 28 (a)
OneToMany
HEL1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ARI2 33
  • 46.24 (n)
rice
(Oryza sativa)
Liliopsida Os03g0233500 33
  • 47.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11309 34
  • 65 (a)
OneToOne
Cin.1327 33
bread mold
(Neurospora crassa)
Ascomycetes NCU06882 33
  • 52.6 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC328.02 33
  • 51.69 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1327 33
Species where no ortholog for ARIH1 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARIH1 Gene

ENSEMBL:
Gene Tree for ARIH1 (if available)
TreeFam:
Gene Tree for ARIH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARIH1: view image

Paralogs for ARIH1 Gene

Paralogs for ARIH1 Gene

genes like me logo Genes that share paralogs with ARIH1: view

Variants for ARIH1 Gene

Sequence variations from dbSNP and Humsavar for ARIH1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs375614248 benign, not specified 72,474,874(+) GGCGGCGGCGGCGGCGGCGGCGG/GGCGGCGG/GGCGGCGGCGGCGG/GGCGGCGGCGGCGGCGGCGG/GGCGGCGGCGGCGGCGGCGGCGGCGG/GGCGGCGGCGGCGGCGGCGGCGGCGGCGG/GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, inframe_deletion, inframe_insertion, upstream_transcript_variant
rs1000016178 -- 72,554,633(+) G/A intron_variant
rs1000046621 -- 72,562,374(+) G/A intron_variant
rs1000069225 -- 72,532,745(+) T/G intron_variant
rs1000100651 -- 72,489,870(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARIH1 Gene

Variant ID Type Subtype PubMed ID
dgv4618n54 CNV loss 21841781
esv2760039 CNV gain+loss 17122850
nsv1054626 CNV gain 25217958
nsv428307 CNV gain 18775914
nsv469704 CNV loss 16826518
nsv483057 CNV loss 15286789
nsv521972 CNV gain 19592680
nsv827384 CNV gain 20364138

Variation tolerance for ARIH1 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARIH1 Gene

Human Gene Mutation Database (HGMD)
ARIH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARIH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARIH1 Gene

Disorders for ARIH1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARIH1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
apnea, obstructive sleep
  • osa
sleep disorder
  • non-organic sleep disorder
aortic valve insufficiency
  • aortic incompetence
- elite association - COSMIC cancer census association via MalaCards
Search ARIH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARIH1

genes like me logo Genes that share disorders with ARIH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARIH1 Gene

Publications for ARIH1 Gene

  1. Structure of the HHARI catalytic domain shows glimpses of a HECT E3 ligase. (PMID: 24058416) Spratt DE … Shaw GS (PloS one 2013) 2 3 4 58
  2. Features of the parkin/ariadne-like ubiquitin ligase, HHARI, that regulate its interaction with the ubiquitin-conjugating enzyme, Ubch7. (PMID: 11278816) Ardley HC … Robinson PA (The Journal of biological chemistry 2001) 3 4 22 58
  3. Ariadne-1: a vital Drosophila gene is required in development and defines a new conserved family of ring-finger proteins. (PMID: 10880484) Aguilera M … Ferrús A (Genetics 2000) 3 4 22 58
  4. Characterisation of the human and mouse orthologues of the Drosophila ariadne gene. (PMID: 11124525) Tan NG … Robinson PA (Cytogenetics and cell genetics 2000) 3 4 22 58
  5. The ubiquitin-conjugating enzymes UbcH7 and UbcH8 interact with RING finger/IBR motif-containing domains of HHARI and H7-AP1. (PMID: 10521492) Moynihan TP … Robinson PA (The Journal of biological chemistry 1999) 2 3 4 58

Products for ARIH1 Gene

Sources for ARIH1 Gene

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