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

SIAH1 Gene

protein-coding   GIFtS: 65
GCID: GC16M048443

siah E3 ubiquitin protein ligase 1

(Previous name: seven in absentia homolog 1 (Drosophila) )
 Explore 18 diseases affiliated with
SIAH1 via our new
 Human Malady Compendium 
Biological research products
for SIAH1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Siah E3 Ubiquitin Protein Ligase 11 2     Siah-1a3
Seven In Absentia Homolog 12 3     EC 6.3.2.-3
HSIAH11     HUMSIAH3
Seven In Absentia Homolog 1 (Drosophila)1     Siah-13
SIAH1A2     Siah-1a3
E3 Ubiquitin-Protein Ligase SIAH12     EC 6.3.28

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  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   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12

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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated on Ser-19 by ATM and ATR. This phosphorylation disrupts SIAH1 interaction with HIPK2, and subsequent
  • proteasomal degradation of HIPK21
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    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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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate (see all 2): SIAH1
    OriGene Custom Protein Services for SIAH1 
    GenScript Custom Purified and Recombinant Proteins Services for SIAH1
    Novus Biologicals SIAH1 Proteins
    Novus Biologicals SIAH1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SIAH1
    Uscn Proteins for SIAH1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm TAS9334332
    GO:0005769early endosome IEA--
    GO:0005829cytosol TAS--

    SIAH1 for ontologies           About GeneDecksing



    SIAH1 Antibody Products: 
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    Uscn ELISAs and CLIAs for SIAH1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SIAH1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 IPI--
    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:
         Mouse knock-out Siah1atm1Ddlb for SIAH1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SIAH1 

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

    OriGene 3'-UTR Clone (see all 2): SIAH1
    Browse MicroRNA Expression Plasmids
    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
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SIAH1 (see all 7)
    OriGene shRNA RFP: SIAH1
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIAH1
    Sirion Biotech Custom design and validation of potent shRNA sequences against SIAH1 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SIAH1 
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SIAH1 (NM_001006610)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIAH1 

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    Sirion Biotech Customized inducible overexpressing cell line services for SIAH1

    In Situ Assay
    Products:
       

     
    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, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway1.00
    Parkin-Ubiquitin Proteasomal System pathway0.93
    Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    2Axon guidance
    Axon guidance1.00
    Developmental Biology0.69
    3p53 signaling pathway
    p53 signaling pathway1.00
    4Netrin-1 signaling
    Netrin-1 signaling1.00
    5Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    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)

    5/134 Interacting proteins for SIAH1 (Q8IUQ41, 2, 3 ENSP000003491564) via UniProtKB, MINT, STRING, and/or I2D (see all 134)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2863180 I2D: score=3 STRING: ENSP00000349076
    HIPK3Q9H4222, 3MINT-61746 I2D: score=3 
    ATXN7O152651, 3EBI-747107,EBI-3866216 I2D: score=1 
    RPL9P329693I2D: score=5 
    RPL9P7P329693I2D: score=5 
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

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    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:
         
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    Sirion Biotech Custom design and validation of potent shRNA sequences against SIAH1 
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIAH1 (see all 4)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SIAH1 (NM_001006610)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIAH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIAH1 
    Primer
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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 cDNA 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):

    BE676461 AV661355 AI972089 AL046386 AW768860 AA948066 AI560284 AW196873 
    CD679103 AA701951 AV649827 CR593197 AI368145 CK822873 CR607323 BF002338 
    BM670017 AI810587 AA447531 CR598465 AW167318 AA934422 AI248783 CA415438 

    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
    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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              Ubiquitin Ligases in human mouse rat

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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 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    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 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 22)
    seven in absentia protein family domain containing...
    seven in absentia protein family domain containing...
    (see all 22)
    31(a)
    29(a)
    (see all 22)
    many ↔ many
    many ↔ many
    (see all 22)
    2(1481233-1485113)
    3(13632446-13636208)


    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, UniProtKB, 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

    10/374 NCBI SNPs in SIAH1 are shown (see all 374    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1178231281,2
    C,F--48394047(+) NNNNCT/CGGGGC 3 -- ds5001 int11Minor allele frequency- C:0.03NA 120
    rs721507481,2
    C--48394161(+) AGTGA-/ATTT  
            
    ATTAT
    3 -- int1 ds50010--------
    rs740179311,2
    C,F--48394252(+) TGGGCA/GAGAGG 3 -- int1 ds50013Minor allele frequency- G:0.07WA CSA 122
    rs348521501,2
    C--48394312(+) TGTGAT/-TTAGA 3 -- ds5001 int11Minor allele frequency- -:0.00CSA 2
    rs352246351,2
    C--48394313(+) GTGAT-/TTAGAG 3 -- ds5001 int10--------
    rs80543141,2
    C,F,A,H--48394330(+) CTACCG/ACACTT 3 -- int1 ds500123Minor allele frequency- A:0.21NS EA NA WA CSA 2201
    rs1864983161,2
    --48394342(+) AAAATA/GACAAC 3 -- int1 ds50010--------
    rs735620501,2
    C--48394537(+) TTTTAG/ATTACA 3 -- ut31 int11Minor allele frequency- A:0.50WA 2
    rs1913173871,2
    --48394542(+) ATTACA/GAATAC 3 -- ut31 int10--------
    rs740179321,2
    C,F--48394605(+) TAAAAT/CATGTG 3 -- ut31 int13Minor allele frequency- C:0.07WA CSA 122

    HapMap Linkage Disequilibrium report for SIAH1 (48390275 - 48482313 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SIAH1
         2 CNVs: 72582 4005

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SIAH1 for disorders           About GeneDecksing

    OMIM gene information: 602212    OMIM disorders: --

    18 diseases for SIAH1:    About MalaCards
    parkinson's disease    hypoxia    adenomatous polyposis coli    septic abortion
    macular degeneration    herpes simplex    balanitis    polyposis
    hepatitis b    hepatocellular carcinoma    gastric cancer    breast cancer
    ataxia    hepatitis    carcinoma    leukemia
    neuronitis    ischemia

    2 Novoseek 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)

    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 108):
    (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. 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)
    4. 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)
    5. Structural analysis of Siah1 and its interactions with Siah-interacting protein (SIP). (PubMed id 12421809)1, 2, 9 Matsuzawa S....Ely K.R. (2003)
    6. 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)
    7. 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)
    8. Siah-1 facilitates ubiquitination and degradation of synphilin-1. (PubMed id 14506261)1, 2, 9 Nagano Y.... Matsumoto M. (2003)
    9. 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)
    10. Ubiquitin conjugase UBCH8 targets active FMS-like tyr osine kinase 3 for proteasomal degradation. (PubMed id 20508617)1, 2 Buchwald M....KrAomer O.H. (2010)

    (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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