Aliases for SIAH3 Gene

Aliases for SIAH3 Gene

  • Siah E3 Ubiquitin Protein Ligase Family Member 3 2 3 5
  • Seven In Absentia Homolog 3 3 4
  • Siah-3 3 4
  • Seven In Absentia Homolog 3 (Drosophila) 2

External Ids for SIAH3 Gene

Previous GeneCards Identifiers for SIAH3 Gene

  • GC13M045252
  • GC13M046353
  • GC13M027151

Summaries for SIAH3 Gene

GeneCards Summary for SIAH3 Gene

SIAH3 (Siah E3 Ubiquitin Protein Ligase Family Member 3) is a Protein Coding gene. An important paralog of this gene is SIAH1.

UniProtKB/Swiss-Prot Summary for SIAH3 Gene

  • Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria.

Additional gene information for SIAH3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIAH3 Gene

Genomics for SIAH3 Gene

GeneHancer (GH) Regulatory Elements for SIAH3 Gene

Promoters and enhancers for SIAH3 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
GH13J045850 Promoter 1.4 EPDnew Ensembl CraniofacialAtlas 500.7 +0.5 453 1.8 EZH2 SMC3 MXI1 GABPA SIN3A SMARCA4 POLR2A RNF2 HLF GATA2 SIAH3 ENSG00000274357
GH13J045853 Enhancer 0.2 Ensembl 500.7 -0.8 -848 0.4 SIAH3 HSALNG0096849
GH13J045828 Enhancer 0.9 Ensembl ENCODE 12.2 +23.9 23853 3 ZBTB40 EP300 TRIM22 MEF2B NBN SPI1 EBF1 IKZF1 BMI1 NR2F1 SIAH3 ENSG00000274357
GH13J045873 Enhancer 0.7 Ensembl ENCODE 12.1 -21.6 -21648 3.2 FOS NR3C1 POLR2A JUND RCOR1 GATA2 SMARCA4 JUN CHD2 POU5F1 HSALNG0096851 SIAH3 HSALNG0096849
GH13J045773 Enhancer 0.8 Ensembl ENCODE 10.4 +78.3 78252 1.4 ZBTB40 FOS ZEB1 OSR2 WT1 ZBTB17 STAT3 ZNF189 ZNF843 HIC1 SIAH3 CBY2 ENSG00000274357
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIAH3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIAH3

Top Transcription factor binding sites by QIAGEN in the SIAH3 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • GATA-3
  • POU3F2
  • POU3F2 (N-Oct-5a)

Genomic Locations for SIAH3 Gene

Genomic Locations for SIAH3 Gene
chr13:45,777,242-45,851,753
(GRCh38/hg38)
Size:
74,512 bases
Orientation:
Minus strand
chr13:46,354,405-46,425,871
(GRCh37/hg19)
Size:
71,467 bases
Orientation:
Minus strand

Genomic View for SIAH3 Gene

Genes around SIAH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIAH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIAH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIAH3 Gene

Proteins for SIAH3 Gene

  • Protein details for SIAH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW03-SIAH3_HUMAN
    Recommended name:
    Seven in absentia homolog 3
    Protein Accession:
    Q8IW03
    Secondary Accessions:
    • B7ZBP0
    • Q8N8M6

    Protein attributes for SIAH3 Gene

    Size:
    269 amino acids
    Molecular mass:
    30660 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH41372.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04809.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from chromosomes 13 and 19.; Evidence={ECO:0000305};

neXtProt entry for SIAH3 Gene

Post-translational modifications for SIAH3 Gene

No Post-translational modifications

Other Protein References for SIAH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIAH3 Gene

Domains & Families for SIAH3 Gene

Gene Families for SIAH3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SIAH3 Gene

Suggested Antigen Peptide Sequences for SIAH3 Gene

GenScript: Design optimal peptide antigens:
  • Seven in absentia homolog 3 (SIAH3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IW03

UniProtKB/Swiss-Prot:

SIAH3_HUMAN :
  • Belongs to the SINA (Seven in absentia) family.
Family:
  • Belongs to the SINA (Seven in absentia) family.
genes like me logo Genes that share domains with SIAH3: view

Function for SIAH3 Gene

Molecular function for SIAH3 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria.

Phenotypes From GWAS Catalog for SIAH3 Gene

Gene Ontology (GO) - Molecular Function for SIAH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031624 ubiquitin conjugating enzyme binding IBA 21873635
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with SIAH3: view
genes like me logo Genes that share phenotypes with SIAH3: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SIAH3 Gene

Localization for SIAH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIAH3 Gene

Mitochondrion.

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 SIAH3 gene
Compartment Confidence
mitochondrion 4
nucleus 2
extracellular 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SIAH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IDA 24270810
genes like me logo Genes that share ontologies with SIAH3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIAH3 Gene

Pathways & Interactions for SIAH3 Gene

PathCards logo

SuperPathways for SIAH3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SIAH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0016567 protein ubiquitination IEA --
GO:0031647 regulation of protein stability IMP 24270810
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with SIAH3: view

No data available for Pathways by source and SIGNOR curated interactions for SIAH3 Gene

Drugs & Compounds for SIAH3 Gene

No Compound Related Data Available

Transcripts for SIAH3 Gene

mRNA/cDNA for SIAH3 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIAH3 Gene

No ASD Table

Relevant External Links for SIAH3 Gene

GeneLoc Exon Structure for
SIAH3

Expression for SIAH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SIAH3 Gene

mRNA differential expression in normal tissues according to GTEx for SIAH3 Gene

This gene is overexpressed in Brain - Cerebellum (x4.9) and Brain - Anterior cingulate cortex (BA24) (x4.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SIAH3

SOURCE GeneReport for Unigene cluster for SIAH3 Gene:

Hs.368483

Evidence on tissue expression from TISSUES for SIAH3 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SIAH3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIAH3 Gene

Orthologs for SIAH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIAH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIAH3 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SIAH3 31 30
  • 90.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Siah3 30
  • 85.53 (n)
mouse
(Mus musculus)
Mammalia Siah3 17 31 30
  • 85.41 (n)
cow
(Bos Taurus)
Mammalia SIAH3 30
  • 83.71 (n)
-- 31
  • 33 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SIAH3 31
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIAH3 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIAH3 31 30
  • 78.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIAH3 31
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia siah3 30
  • 68.35 (n)
zebrafish
(Danio rerio)
Actinopterygii siah2l 31
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sina 31
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea siah-1 31
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8769 31
  • 41 (a)
OneToMany
Species where no ortholog for SIAH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)

Evolution for SIAH3 Gene

ENSEMBL:
Gene Tree for SIAH3 (if available)
TreeFam:
Gene Tree for SIAH3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIAH3: view image

Paralogs for SIAH3 Gene

Paralogs for SIAH3 Gene

(2) SIMAP similar genes for SIAH3 Gene using alignment to 1 proteins:

  • SIAH3_HUMAN

Pseudogenes.org Pseudogenes for SIAH3 Gene

genes like me logo Genes that share paralogs with SIAH3: view

Variants for SIAH3 Gene

Additional dbSNP identifiers (rs#s) for SIAH3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SIAH3 Gene

Variant ID Type Subtype PubMed ID
dgv223e201 CNV deletion 23290073
dgv332e214 CNV loss 21293372
esv2747353 CNV deletion 23290073
esv3450837 CNV duplication 20981092
nsv1024 CNV deletion 18451855
nsv527222 CNV gain 19592680
nsv561580 CNV loss 21841781
nsv832597 CNV loss 17160897

Variation tolerance for SIAH3 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIAH3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIAH3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIAH3 Gene

Disorders for SIAH3 Gene

Additional Disease Information for SIAH3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SIAH3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SIAH3 Gene

Publications for SIAH3 Gene

  1. Phylogenetic analysis of the SINA/SIAH ubiquitin E3 ligase family in Metazoa. (PMID: 28784114) Pepper IJ … Tang AH (BMC evolutionary biology 2017) 2 3 54
  2. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. (PMID: 24270810) Hasson SA … Youle RJ (Nature 2013) 3 4 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Human gingiva transcriptome during wound healing. (PMID: 28005267) Wang Y … Tatakis DN (Journal of clinical periodontology 2017) 3 54

Products for SIAH3 Gene

Sources for SIAH3 Gene