This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxi... See more...

Aliases for SIAH1 Gene

Aliases for SIAH1 Gene

  • Siah E3 Ubiquitin Protein Ligase 1 2 3 5
  • RING-Type E3 Ubiquitin Transferase SIAH1 3 4
  • E3 Ubiquitin-Protein Ligase SIAH1 3 4
  • Seven In Absentia Homolog 1 3 4
  • Siah-1a 3 4
  • Seven In Absentia Homolog 1 (Drosophila) 2
  • EC 2.3.2.27 4
  • EC 6.3.2 52
  • HUMSIAH 4
  • SIAH1A 3
  • Siah-1 4

External Ids for SIAH1 Gene

Previous GeneCards Identifiers for SIAH1 Gene

  • GC16M038809
  • GC16M048443
  • GC16M048131
  • GC16M048172
  • GC16M046951
  • GC16M034285
  • GC16M048391

Summaries for SIAH1 Gene

Entrez Gene Summary for SIAH1 Gene

  • This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for SIAH1 Gene

SIAH1 (Siah E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with SIAH1 include Parkinson Disease, Late-Onset. Among its related pathways are Class I MHC mediated antigen processing and presentation and Netrin-1 signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and ubiquitin-protein transferase activity. An important paralog of this gene is SIAH2.

UniProtKB/Swiss-Prot Summary for SIAH1 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2 through proteasomal degradation. It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO) generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to the nucleus. GAPDH acts as a stabilizer of SIAH1, facilitating the degradation of nuclear proteins.

Gene Wiki entry for SIAH1 Gene

Additional gene information for SIAH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIAH1 Gene

Genomics for SIAH1 Gene

GeneHancer (GH) Regulatory Elements for SIAH1 Gene

Promoters and enhancers for SIAH1 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
GH16J048364 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 516 +82.2 82224 3.7 ZBTB40 ZSCAN5C NRF1 POLR2G NCOR1 RBAK PHF8 PHB2 ZNF639 EP300 SIAH1 LONP2 N4BP1 lnc-SIAH1-2 lnc-LONP2-14
GH16J048382 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 504.2 +63.9 63893 4.1 EP300 NRF1 MYC POLR2G USF1 GTF2E2 PHF8 ZFX ZIC2 REST SIAH1 RF00017-2063 lnc-LONP2-14 N4BP1 lnc-SIAH1-2
GH16J048448 Promoter 0.8 EPDnew 500.7 +0.0 22 0.1 ZBTB25 ZKSCAN8 MIER3 ZGPAT HOMEZ THAP11 KDM1A HMG20A ZNF614 ARID4B ENSG00000261802 SIAH1
GH16J048449 Enhancer 0.2 Ensembl 500.7 -0.8 -761 0.8 ENSG00000261802 SIAH1 LONP2 L13714-176
GH16J049084 Enhancer 0.9 Ensembl 43.8 -636.5 -636461 0.2 RBAK ZNF354C ZBTB10 ZNF662 ATF2 ZEB1 ZNF148 SALL2 KLF9 CREB1 SIAH1 ZNF423 MTND4LP25 HSALNG0111276 LOC105371241 ENSG00000287469
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIAH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIAH1

Top Transcription factor binding sites by QIAGEN in the SIAH1 gene promoter:
  • aMEF-2
  • E47
  • MEF-2
  • MEF-2A
  • Sp1

Genomic Locations for SIAH1 Gene

Genomic Locations for SIAH1 Gene
chr16:48,356,364-48,448,440
(GRCh38/hg38)
Size:
92,077 bases
Orientation:
Minus strand
chr16:48,390,275-48,482,313
(GRCh37/hg19)
Size:
92,039 bases
Orientation:
Minus strand

Genomic View for SIAH1 Gene

Genes around SIAH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIAH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIAH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIAH1 Gene

Proteins for SIAH1 Gene

  • Protein details for SIAH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUQ4-SIAH1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase SIAH1
    Protein Accession:
    Q8IUQ4
    Secondary Accessions:
    • A0FKF3
    • O43269
    • Q49A58
    • Q92880

    Protein attributes for SIAH1 Gene

    Size:
    282 amino acids
    Molecular mass:
    31123 Da
    Quaternary structure:
    • Homodimer. Interacts with group 1 glutamate receptors GRM1 and GRM5. Interacts with DAB1, which may inhibit its activity. Interacts with UBE2E2. Interacts with PEG3. Interacts with GAPDH; leading to stabilize SIAH1 (By similarity). Component of some large E3 complex composed of UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with UBE2I. Interacts with alpha-tubulin. Interacts with PEG10, which may inhibit its activity. Interacts with KHDRBS3. Interacts with SNCAIP and HIPK2. Interacts with Bassoon/BSN and Piccolo/PLCO; these interactions negatively regulate SIAH1 E3 ligase activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for SIAH1 Gene

    Alternative splice isoforms for SIAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIAH1 Gene

Selected DME Specific Peptides for SIAH1 Gene

Q8IUQ4:
  • FMLVLEKQE
  • PRSIHEG
  • EKVANSVLFPCKY
  • HKSITTLQGEDIVFLATDI
  • YRLELNG
  • SGHLVCSNCRPKL
  • CPCPGASCKW
  • NGNLGINVTIS
  • RRRLTWEA
  • IRNLAME
  • TTASNNDLASLFECPVCFDYVLPPILQCQSGHLVCSNCRP
  • WEATPRSIH
  • LIGTRKQA
  • VLFPCKYA
  • SDCLVFD

Post-translational modifications for SIAH1 Gene

  • Phosphorylated on Ser-19 by ATM and ATR. This phosphorylation disrupts SIAH1 interaction with HIPK2, and subsequent proteasomal degradation of HIPK2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SIAH1 Gene

Gene Families for SIAH1 Gene

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

Protein Domains for SIAH1 Gene

Suggested Antigen Peptide Sequences for SIAH1 Gene

GenScript: Design optimal peptide antigens:
  • Seven in absentia homolog 1 isoform a (B5BU17_HUMAN)
  • Siah-1a (SIAH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IUQ4

UniProtKB/Swiss-Prot:

SIAH1_HUMAN :
  • The RING-type zinc finger domain is essential for ubiquitin ligase activity.
  • Belongs to the SINA (Seven in absentia) family.
Domain:
  • The RING-type zinc finger domain is essential for ubiquitin ligase activity.
  • The SBD domain (substrate-binding domain) mediates the homodimerization and the interaction with substrate proteins. It is related to the TRAF family.
Family:
  • Belongs to the SINA (Seven in absentia) family.
genes like me logo Genes that share domains with SIAH1: view

Function for SIAH1 Gene

Molecular function for SIAH1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2 through proteasomal degradation. It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO) generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to the nucleus. GAPDH acts as a stabilizer of SIAH1, facilitating the degradation of nuclear proteins.
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=2.3.2.27;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by interaction with SNCAIP (isoform 2, but not isoform 1). May be inhibited by interaction with PEG10.
UniProtKB/Swiss-Prot Induction:
May be induced by p53/TP53, suggesting that it may be required to modulate p53/TP53 response. The relevance of such activity in vivo is however unclear and may not exist.
GENATLAS Biochemistry:
Drosophila seven in absentia (sina) homolog 1,putatively involved in apoptosis and tumor suppression,also mediating through RING finger ubiquitin-conjugating enzyme (E2)-dependent ubiquitination

Enzyme Numbers (IUBMB) for SIAH1 Gene

Phenotypes From GWAS Catalog for SIAH1 Gene

Gene Ontology (GO) - Molecular Function for SIAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI,IEA 11483518
GO:0008022 protein C-terminus binding IPI 11389840
GO:0008270 zinc ion binding ISS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with SIAH1: view
genes like me logo Genes that share phenotypes with SIAH1: view

Animal Models for SIAH1 Gene

MGI Knock Outs for SIAH1:

Animal Model Products

miRNA for SIAH1 Gene

Clone Products

  • Addgene plasmids for SIAH1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIAH1 Gene

Localization for SIAH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIAH1 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear.

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 SIAH1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 4
plasma membrane 3
endosome 3
cytoskeleton 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SIAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
GO:0005737 cytoplasm TAS 9334332
GO:0005769 early endosome IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with SIAH1: view

Pathways & Interactions for SIAH1 Gene

genes like me logo Genes that share pathways with SIAH1: view

Pathways by source for SIAH1 Gene

1 GeneGo (Thomson Reuters) pathway for SIAH1 Gene
  • Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

UniProtKB/Swiss-Prot Q8IUQ4-SIAH1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for SIAH1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SIAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IEA,ISS --
GO:0006915 apoptotic process TAS 9403064
GO:0007049 cell cycle IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with SIAH1: view

Drugs & Compounds for SIAH1 Gene

(5) Drugs for SIAH1 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Omigapil Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for SIAH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with SIAH1: view

Transcripts for SIAH1 Gene

mRNA/cDNA for SIAH1 Gene

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

Clone Products

  • Addgene plasmids for SIAH1

Alternative Splicing Database (ASD) splice patterns (SP) for SIAH1 Gene

No ASD Table

Relevant External Links for SIAH1 Gene

GeneLoc Exon Structure for
SIAH1

Expression for SIAH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SIAH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIAH1 Gene

This gene is overexpressed in Testis (x4.5).

Protein differential expression in normal tissues from HIPED for SIAH1 Gene

This gene is overexpressed in Ovary (38.1) and Placenta (30.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SIAH1 Gene



Protein tissue co-expression partners for SIAH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SIAH1

SOURCE GeneReport for Unigene cluster for SIAH1 Gene:

Hs.706828

mRNA Expression by UniProt/SwissProt for SIAH1 Gene:

Q8IUQ4-SIAH1_HUMAN
Tissue specificity: Widely expressed at a low level. Down-regulated in advanced hepatocellular carcinomas.

Evidence on tissue expression from TISSUES for SIAH1 Gene

  • Nervous system(4.5)
  • Intestine(4.3)
  • Eye(4.2)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with SIAH1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SIAH1 Gene

Orthologs for SIAH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SIAH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIAH1 31 30
  • 99.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Siah1b 31
  • 98 (a)
OneToMany
Siah1a 17 31 30
  • 92.67 (n)
dog
(Canis familiaris)
Mammalia SIAH1 31 30
  • 93.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SIAH1 31 30
  • 93.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Siah1a 30
  • 91.84 (n)
oppossum
(Monodelphis domestica)
Mammalia SIAH1 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIAH1 31 30
  • 90.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIAH1 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia siah1 30
  • 84.75 (n)
Str.642 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.2090 30
zebrafish
(Danio rerio)
Actinopterygii siah1 31 30
  • 76.76 (n)
OneToOne
idibd2635 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006127 30
  • 66.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta sina 32 30
  • 64.56 (n)
CG13030 32
  • 40 (a)
sinah 31
  • 37 (a)
OneToMany
CG2681 31
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y37E11AR.2 32
  • 67 (a)
siah-1 30
  • 58.5 (n)
rice
(Oryza sativa)
Liliopsida Os07g0659800 30
  • 46.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.9219 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9219 30
Species where no ortholog for SIAH1 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SIAH1 Gene

ENSEMBL:
Gene Tree for SIAH1 (if available)
TreeFam:
Gene Tree for SIAH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIAH1: view image

Paralogs for SIAH1 Gene

Paralogs for SIAH1 Gene

(2) SIMAP similar genes for SIAH1 Gene using alignment to 3 proteins:

  • SIAH1_HUMAN
  • B5BU17_HUMAN
  • H3BU09_HUMAN

Pseudogenes.org Pseudogenes for SIAH1 Gene

genes like me logo Genes that share paralogs with SIAH1: view

Variants for SIAH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIAH1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
737239 Benign: not provided 48,361,865(-) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
743019 Benign: not provided 48,361,775(-) A/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
773056 Benign: not provided 48,361,616(-) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
779016 Benign: not provided 48,362,279(-) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SIAH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SIAH1 Gene

Variant ID Type Subtype PubMed ID
dgv5109n54 CNV loss 21841781
dgv5110n54 CNV loss 21841781
dgv5111n54 CNV gain+loss 21841781
dgv5112n54 CNV gain 21841781
esv26254 CNV loss 19812545
esv2758645 CNV gain 17122850
nsv1069942 CNV deletion 25765185
nsv1118351 CNV deletion 24896259
nsv1144769 CNV deletion 24896259
nsv572540 CNV loss 21841781
nsv572541 CNV gain 21841781
nsv572546 CNV gain+loss 21841781
nsv572551 CNV gain 21841781
nsv572553 CNV loss 21841781
nsv572555 CNV loss 21841781
nsv833219 CNV gain 17160897
nsv952668 CNV duplication 24416366

Variation tolerance for SIAH1 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIAH1 Gene

Human Gene Mutation Database (HGMD)
SIAH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIAH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIAH1 Gene

Disorders for SIAH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SIAH1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards
Search SIAH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SIAH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SIAH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIAH1 Gene

Publications for SIAH1 Gene

  1. Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease. (PMID: 16752048) Franck T … Riess O (Journal of neural transmission (Vienna, Austria : 1996) 2006) 3 23 41 54
  2. Structural analysis of Siah1-Siah-interacting protein interactions and insights into the assembly of an E3 ligase multiprotein complex. (PMID: 16085652) Santelli E … Matsuzawa S (The Journal of biological chemistry 2005) 3 4 23 54
  3. SIAH1 targets the alternative splicing factor T-STAR for degradation by the proteasome. (PMID: 15163637) Venables JP … Elliott DJ (Human molecular genetics 2004) 3 4 23 54
  4. Structural analysis of Siah1 and its interactions with Siah-interacting protein (SIP). (PMID: 12421809) Matsuzawa S … Ely KR (The Journal of biological chemistry 2003) 3 4 23 54
  5. Siah-1 facilitates ubiquitination and degradation of synphilin-1. (PMID: 14506261) Nagano Y … Matsumoto M (The Journal of biological chemistry 2003) 3 4 23 54

Products for SIAH1 Gene

Sources for SIAH1 Gene