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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SIAH1 Gene

protein-coding   GIFtS: 66
GCID: GC16M048443

Siah E3 Ubiquitin Protein Ligase 1

(Previous name: seven in absentia homolog 1 (Drosophila))
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Siah E3 Ubiquitin Protein Ligase 11 2     EC 6.3.2.-3
Seven In Absentia Homolog 12 3     HUMSIAH3
Seven In Absentia Homolog 1 (Drosophila)1     Siah-13
SIAH1A2     Siah-1a3
E3 Ubiquitin-Protein Ligase SIAH12     EC 6.3.28
siah-1a2     

External Ids:    HGNC: 108571   Entrez Gene: 64772   Ensembl: ENSG000001964707   OMIM: 6022125   UniProtKB: Q8IUQ43   

Export aliases for SIAH1 gene to outside databases

Previous GC identifers: GC16M038809 GC16M048131 GC16M048172 GC16M046951 GC16M034285


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 balanitis, and parkinson's disease, and among its related super-pathways are Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway and Axon guidance. GO annotations related to this gene include ubiquitin-protein ligase activity and protein C-terminus binding. An important paralog of this gene is SIAH3.

UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4
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

Gene Wiki entry for SIAH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SIAH1 gene promoter:
         MEF-2A   Sp1   MEF-2   aMEF-2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SIAH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIAH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIAH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12.1   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12.1

SIAH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIAH1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M048443:  view genomic region     (about GC identifiers)

Start:
48,390,275 bp from pter      End:
48,482,313 bp from pter
Size:
92,039 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase SIAH1  
Size: 282 amino acids; 31123 Da
Subunit: 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
Subcellular location: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear
1 PDB 3D structure from and Proteopedia for SIAH1:
2A25 (3D)    
Secondary accessions: A0FKF3 O43269 Q49A58 Q92880
Alternative splicing: 3 isoforms:  Q8IUQ4-1   Q8IUQ4-2   Q8IUQ4-3   

Explore the universe of human proteins at neXtProt for SIAH1: NX_Q8IUQ4

Explore proteomics data for SIAH1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on Ser-19 by ATM and ATR. This phosphorylation disrupts SIAH1 interaction with HIPK2, and
    subsequent proteasomal degradation of HIPK2
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IUQ4

  • 4/15 DME Specific Peptides for SIAH1 (Q8IUQ4) (see all 15)
     PRSIHEG  YRLELNG  IRNLAME  SDCLVFD 

    SIAH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SIAH1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001006611.1  NP_003022.3  

    ENSEMBL proteins: 
     ENSP00000456421   ENSP00000369343   ENSP00000349156   ENSP00000378214   ENSP00000457415  
    Reactome Protein details: Q8IUQ4
    Human Recombinant Protein Products for SIAH1: 
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    Novus Biologicals SIAH1 Proteins
    Novus Biologicals SIAH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SIAH1
    Cloud-Clone Corp. Proteins for SIAH1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm TAS9334332
    GO:0005769early endosome IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    SIAH1 for ontologies           About GeneDecksing



    SIAH1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for SIAH1 
    Cloud-Clone Corp. CLIAs for SIAH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR008974 TRAF-like
     IPR018121 7-in-absentia-prot_TRAF-dom
     IPR001841 Znf_RING
     IPR013010 Znf_SIAH
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q8IUQ4

    ProtoNet protein and cluster: Q8IUQ4

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4
    Domain: The RING-type zinc finger domain is essential for ubiquitin ligase activity
    Domain: The SBD domain (substrate-binding domain) mediates the homodimerization and the interaction with substrate
    proteins. It is related to the TRAF family (By similarity)
    Similarity: Belongs to the SINA (Seven in absentia) family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 SIAH-type zinc finger


    SIAH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIAH1_HUMAN, Q8IUQ4
    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
    Enzyme regulation: Inhibited by interaction with SNCAIP (isoform 2, but not isoform 1). May be inhibited by
    interaction with PEG10
    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 entry for SIAH1:
    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): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity ISS--
    GO:0005515protein binding IPI16085652
    GO:0008022protein C-terminus binding IPI11389840
    GO:0008270zinc ion binding ISS--
         
    SIAH1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Siah1a):
     cellular  endocrine/exocrine gland  growth/size  liver/biliary system  mortality/aging 
     reproductive system 

    SIAH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Siah1atm1Ddlb for SIAH1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SIAH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SIAH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIAH1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIAH1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target SIAH1:
    hsa-mir-424 (MIRT005887)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIAH1
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate SIAH1 (see all 42):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-193a-3p hsa-miR-300 hsa-miR-15a hsa-miR-200a hsa-miR-374c hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidSIAH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Sino Biological Human cDNA Clone for SIAH1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIAH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIAH1
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                         Customized lentivirus expression plasmids for stable overexpression of SIAH1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIAH1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SIAH1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    2Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    3p53 signaling pathway
    p53 signaling pathway0.41
    4Wnt signaling pathway
    Wnt signaling pathway0.40
    5Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SIAH1
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway


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

    1 BioSystems Pathway for SIAH1
        Parkin-Ubiquitin Proteasomal System pathway


    3        Reactome Pathways for SIAH1
        Developmental Biology
    Netrin-1 signaling
    Axon guidance


    3         Kegg Pathways  (Kegg details for SIAH1):
        p53 signaling pathway
    Ubiquitin mediated proteolysis
    Wnt signaling pathway

    UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4
    Pathway: Protein modification; protein ubiquitination


    SIAH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIAH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/136 Interacting proteins for SIAH1 (Q8IUQ41, 2, 3 ENSP000003491564) via UniProtKB, MINT, STRING, and/or I2D (see all 136)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2863180 I2D: score=3 STRING: ENSP00000349076
    HIPK3Q9H4222, 3MINT-61746 I2D: score=3 
    ATXN7O152651, 3EBI-747107,EBI-708350 I2D: score=1 
    RPL9P329693I2D: score=5 
    RPL9P7P329693I2D: score=5 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS9334332
    GO:0006511ubiquitin-dependent protein catabolic process ----
    GO:0006915apoptotic process TAS9403064
    GO:0007049cell cycle IEA--
    GO:0007275multicellular organismal development ----

    SIAH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SIAH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SIAH1

    4 HMDB Compounds for SIAH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for SIAH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitric oxide 0 6 16752048 (1), 15951807 (1)

    Search CenterWatch for drugs/clinical trials and news about SIAH1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SIAH1 gene (2 alternative transcripts): 
    NM_001006610.1  NM_003031.3  

    Unigene Cluster for SIAH1:

    Siah E3 ubiquitin protein ligase 1
    Hs.706828  [show with all ESTs]
    Unigene Representative Sequence: BX647064
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565620 ENST00000568007(uc002efl.3) ENST00000380006(uc021ths.1)
    ENST00000356721(uc002efn.1) ENST00000394725(uc002efo.1) ENST00000563745
    ENST00000573005 ENST00000567973
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIAH1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIAH1

    Additional mRNA sequence: 

    AB451253.1 AB451377.1 AK023458.1 AK094663.1 AK225895.1 AK313861.1 BC018193.1 BC035562.1 
    BC042550.1 BC044920.1 BX647064.1 EF026094.1 U63295.1 U76247.1 

    20 DOTS entries:

    DT.85105309  DT.91937961  DT.95181842  DT.91747164  DT.91759232  DT.95181829  DT.100765820  DT.100790999 
    DT.97833637  DT.91920720  DT.99955674  DT.100026014  DT.100685789  DT.100791002  DT.120721569  DT.75136444 
    DT.85105366  DT.120721489  DT.40203481  DT.95181828 

    24/228 AceView cDNA sequences (see all 228):

    AV661355 CR607323 BQ027303 AI560284 BC035562 T11012 AW117503 CR598465 
    AA934422 CR614925 AW167318 AI248783 BC042550 CR593197 CA415438 AA447531 
    AW196873 BM783469 AW768860 AK094663 AA885525 AA701951 D59180 AI368145 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SIAH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAGTATTT
    SIAH1 Expression
    About this image


    See SIAH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIAH1

    SOURCE GeneReport for Unigene cluster: Hs.706828

    UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4
    Tissue specificity: Widely expressed at a low level. Down-regulated in advanced hepatocellular carcinomas

        SABiosciences Expression via Pathway-Focused PCR Arrays including SIAH1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SIAH1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Siah1a1 , 5 seven in absentia 1A1, 5 92.67(n)1
    99.65(a)1
      8 (42.10 cM)5
    204371  NM_009172.21  NP_033198.11 
     867239405 
    chicken
    (Gallus gallus)
    Aves SIAH11 seven in absentia homolog 1 (Drosophila) 90.31(n)
    99.65(a)
      374076  XM_414105.2  XP_414105.2 
    lizard
    (Anolis carolinensis)
    Reptilia SIAH16
    Uncharacterized protein
    95(a)
    1 ↔ 1
    LGc(2571329-2572501)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.20902 Xenopus laevis transcribed sequence with strong similarity more 84.33(n)    BU912024.1 
    zebrafish
    (Danio rerio)
    Actinopterygii idibd26352 idibd2635 77.31(n)   80955  BC045870.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sina1 , 3 R7 cell fate commitment3
    seven in absentia1
    83(a)
    (best of 2)3
    64.56(n)1
    79.18(a)1
      3 73D33
    398841  NM_057377.31  NP_476725.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37E11AR.23
    siah-11
    Protein SIAH-11 67(a)3
    58.5(n)1
    63.4(a)1
      IV(3744137-3747213)3
    1771381  NM_068008.21  NP_500409.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G278801 E3 ubiquitin-protein ligase SINAT4 46.55(n)
    38.82(a)
      828901  NM_118926.2  NP_194517.1 


    ENSEMBL Gene Tree for SIAH1 (if available)
    TreeFam Gene Tree for SIAH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIAH1 gene
    SIAH32  SIAH22  
    2 SIMAP similar genes for SIAH1 using alignment to 3 protein entries:     SIAH1_HUMAN (see all proteins):
    SIAH2    SIAH3

    SIAH1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SIAH1
    PGOHUM00000241698


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/477 SNPs in SIAH1 are shown (see all 477)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs667615531,2
    C--48401707(+) CAAAA-/AGCTGA 2 -- us2k1 int11Minor allele frequency- A:0.50CSA 2
    rs1126613091,2
    C,F--48404579(+) AGGCGC/TGGTGG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs768887571,2
    C,F--48404690(+) CCAGCG/CTGGGC 1 -- int12Minor allele frequency- C:0.50WA CSA 4
    rs1999684071,2
    C--48415502(+) ATTACA/CAAGCC 1 -- int10--------
    rs1120331761,2
    C--48418901(+) GGCGAA/GCCGGC 1 -- int10--------
    rs1913249321,2
    --48418957(+) CGGGCA/GGCCCG 1 -- int10--------
    rs1178231281,2
    C,F--49409177(+) GAAACT/CGGGGC 2 -- ds50011Minor allele frequency- C:0.03NA 120
    rs721507481,2
    C--49409291(+) AGTGA-/ATTT  
            
    ATTAT
    2 -- ds50010--------
    rs740179311,2
    C,F--49409382(+) TGGGCA/GAGAGG 2 -- ds50013Minor allele frequency- G:0.07WA CSA 122
    rs348521501,2
    C--49409442(+) TGTGAT/-TTAGA 2 -- ds50011Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for SIAH1 (48390275 - 48482313 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SIAH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv26254CNV Loss19812545
    nsv833219CNV Gain17160897
    dgv888e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602212    OMIM disorders: --

    14 diseases for SIAH1:    About MalaCards
    balanitis    parkinson's disease    hypoxia    herpes simplex
    macular degeneration    ischemia    ataxia    gastric cancer
    hepatitis b    hepatocellular carcinoma    hepatitis    breast cancer
    neuronitis    leukemia


    SIAH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for SIAH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 45.8 2 16752048 (2)
    tumors 0 3 20144232 (3)

    Genetic Association Database (GAD): SIAH1
    Human Genome Epidemiology (HuGE) Navigator: SIAH1 (1 document)

    Export disorders for SIAH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SIAH1 gene, integrated from 9 sources (see all 115):
    (articles sorted by number of sources associating them with SIAH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human homologs of the Drosophila seven in absentia (sina) gene. (PubMed id 9403064)1, 2, 3 Hu G.... Fearon E.R. (1997)
    2. Mammalian homologs of seven in absentia regulate DCC via the ubiquitin-proteasome pathway. (PubMed id 9334332)1, 2, 3 Hu G.... Fearon E.R. (1997)
    3. Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease. (PubMed id 16752048)1, 4, 9 Franck T....Riess O. (2006)
    4. SIAH1 targets the alternative splicing factor T-STAR for degradation by the proteasome. (PubMed id 15163637)1, 2, 9 Venables J.P.... Elliott D.J. (2004)
    5. Structural analysis of Siah1-Siah-interacting protein interactions and insights into the assembly of an E3 ligase multiprotein complex. (PubMed id 16085652)1, 2, 9 Santelli E....Matsuzawa S. (2005)
    6. Structural analysis of Siah1 and its interactions with Siah-interacting protein (SIP). (PubMed id 12421809)1, 2, 9 Matsuzawa S....Ely K.R. (2003)
    7. Modulation of transforming growth factor beta (TGFbeta)/Smad transcriptional responses through targeted degradation of TGFbeta- inducible early gene-1 by human seven in absentia homologue. (PubMed id 12072443)1, 2, 9 Johnsen S.A....Spelsberg T.C. (2002)
    8. Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein. (PubMed id 11389840)1, 2, 9 Liu J.... Matsunami N. (2001)
    9. Siah-1 facilitates ubiquitination and degradation of synphilin-1. (PubMed id 14506261)1, 2, 9 Nagano Y.... Matsumoto M. (2003)
    10. The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription. (PubMed id 22483617)1, 2 Liu M....Zhou Q. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6477 HGNC: 10857 AceView: SIAH1 Ensembl:ENSG00000196470 euGenes: HUgn6477
    ECgene: SIAH1 Kegg: 6477 H-InvDB: SIAH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SIAH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SIAH1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SIAH1 gene:
    Search GeneIP for patents involving SIAH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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