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Aliases & Descriptions for SIAH1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 6.3.2.- 3 FLJ08065 2 HUMSIAH 2 , 3 Siah-1 2 , 3 Siah-1a 2 , 3 hSIAH1 1 , 2
Descriptions Seven in absentia homolog 1 2 , 3 seven in absentia homolog 1 (Drosophila) 2 sonic hedgehog homolog 2
Search outside databases for aliases for SIAH1 genePrevious GC identifers: GC16M038809 GC16M048443 GC16M048131 GC16M048172
Summaries for SIAH1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for SIAH1 : This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. Theprotein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation ofspecific proteins. The activity of this ubiquitin ligase has been implicated in the development ofcertain forms of Parkinson's disease, the regulation of the cellular response to hypoxia andinduction of apoptosis. Alternative splicing results in several additional transcript variants,some encoding different isoforms and others that have not been fully characterized. [provided byRefSeq] UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4 Function : E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomaldegradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitinto targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding tosubstrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggersthe ubiquitin-mediated degradation of many substrates, including proteins involved intranscription regulation (MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), cytoplasmicsignal transduction molecules (TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubulemotor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), astructural protein (CTNNB1) and SNCAIP. It is thereby involved in many cellular processes such asapoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesisand TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis incooperation with PEG3 (By similarity)
Gene Wiki entry for SIAH1
Genomic Location for SIAH1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the SIAH1 gene 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) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M046951:
(about GC identifiers )
Start:
46,951,943 bp from pter
End:
46,976,730 bp from pter
Size:
24,788 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000016.8 NT_010498.15 Proteins for SIAH1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 (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 itsactivity. Interacts with KHDRBS3
Subcellular location : Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear
PDB structures from and Proteopedia : 2A25 (3D)
 
Secondary accessions : A0FKF3 O43269 Q49A58 Q92880Alternative splicing : 3 isoforms : Q8IUQ4-1 Q8IUQ4-2 Q8IUQ4-3
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001006611.1 NP_003022.3 ENSEMBL proteins: ENSP00000349156 ENSP00000353090 ENSP00000378214 ENSP00000369343 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for SIAH1: Assays for SIAH1:
Protein
Domains/ Families for SIAH1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 activityDomain : The SBD domain (substrate-binding domain) mediates the homodimerization and the interactionwith substrate proteins. It is related to the TRAF family (By similarity) Similarity : Belongs to the SINA (Seven in absentia) familySimilarity : Contains 1 RING-type zinc fingerSimilarity : Contains 1 SIAH-type zinc finger
Gene Function for SIAH1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich ,
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_003031 Applied Biosystems Silencer ® siRNAs for SIAH1 Sigma-Aldrich siRNA and siRNA Panels for SIAH1 Sigma-Aldrich shRNA Panels and shRNA for SIAH1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001006610                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001006610                                  untagged cDNA clones in CMV expression vector (see all 4 ): AK094663  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001006610 UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4 Function : E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomaldegradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitinto targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding tosubstrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggersthe ubiquitin-mediated degradation of many substrates, including proteins involved intranscription regulation (MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), cytoplasmicsignal transduction molecules (TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubulemotor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), astructural protein (CTNNB1) and SNCAIP. It is thereby involved in many cellular processes such asapoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesisand TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis incooperation with PEG3 (By similarity) Induction : May be induced by TP53/p53, suggesting that it may be required to modulate TP53response. The relevance of such activity in vivo is however unclear and may not exist Enzyme Number (IUBMB): EC 6.3.2.-
Genatlas biochemistry entry for SIAH1 :Drosophila seven in absentia (sina) homolog 1,putatively involved in apoptosis and tumorsuppression,also mediating through RING finger ubiquitin-conjugating enzyme (E2)-dependentubiquitination
7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Siah1a) :5 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for SIAH1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for SIAH1 (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4 Pathway : Protein modification; protein ubiquitination
Gene Network CentralTM Interacting Genes and Proteins Network for SIAH1 5/43 Interacting proteins for SIAH1 (ENSP00000353090 3 Q8IUQ4 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 43
)About this table 5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12
):
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Drugs & Compounds for SIAH1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for SIAH1 1 Novoseek chemical compound relationship for SIAH1 gene
About this table
Transcripts for SIAH1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_003031 Sigma-Aldrich siRNA and siRNA Panels for SIAH1 Sigma-Aldrich shRNA Panels and shRNA for SIAH1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001006610 NM_003031
REFSEQ mRNAs for SIAH1 gene (2 alternative transcripts): NM_001006610.1 NM_003031.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001006610 NM_003031
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001006610                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001006610                                  untagged cDNA clones in CMV expression vector (see all 4 ): AK094663  
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 CR593197.1 CR598465.1 CR607323.1 CR614925.1 EF026094.1 U63295.1 U76247.1
21 DOTS entries : DT.85105309 DT.91937961 DT.91747164 DT.95181842 DT.95181829 DT.100765820 DT.100026014 DT.91759232 DT.97833637 DT.100790999 DT.91920720 DT.95181828 DT.100791002 DT.120721569 DT.40203481 DT.75136444 DT.85105366 DT.100685789 DT.120721489 DT.95181831 DT.99955674
24/228 AceView cDNA sequences (see all 228
):AI248783 CR598465 AI810587 AI305834 CR593197 AK094663 AA885525 AA447531 CD679103 AA948066 AW768860 AU136155 AV661355 BQ181813 BE676461 AI972089 BU521256 BQ027303 AW167318 AV661329 T11012 AI560284 AA934422 BM699360
highest scoring ESTs for SIAH1 :U76247 AU099135 AU136155 AU136857 AV654246 BC018193 BC035562 BF033914 BG489183 BG899050
Unigene Cluster for SIAH1: Seven in absentia homolog 1 (Drosophila) Hs.295923 [show with all ESTs ] Unigene Representative Sequence: BX647064 GeneLoc Exon Structure 4 Ensembl transcripts including schematic representations : ENST00000356721
ENST00000359996
ENST00000394725
ENST00000380006
Expression for SIAH1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SIAH1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SIAH1 1 / 2 / 3
8 probe-sets matching SIAH1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CACAGTATTTSOURCE GeneReport for Unigene cluster: Hs.295923 Expression variation in blood from EXPOLDB for SIAH1
UniProtKB/Swiss-Prot: SIAH1_HUMAN, Q8IUQ4 Tissue specificity : Widely expressed at low level. Down-regulated in advanced hepatocellularcarcinomas
Orthologs for SIAH1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SIAH1 gene from 5/13 species (see all 13
)
About this table Species with no ortholog for SIAH1 ENSEMBL Gene Tree for SIAH1 Paralogs for SIAH1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SIAH1 gene SIAH3 2 SIAH2 2
SNPs/Variants for SIAH1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SIAH1 (up to first 250kb)
Disorders & Mutations for SIAH1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 602212 1 Novoseek disease relationship for SIAH1 gene
About this table Human Genome Epidemiology Navigator: SIAH1 (1 document)
Medical News for SIAH1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for SIAH1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/69 PubMed articles for SIAH1 gene (see all 69
): Characterization of human homologs of the Drosophila seven in absentia (sina) gene. (PubMed id 9403064) 2, 3, 4 Hu G.... Fearon E.R. (1997) Mammalian homologs of seven in absentia regulate DCC via the ubiquitin-proteasome pathway. (PubMed id 9334332) 2, 3, 4 Hu G....Fearon E.R. (1997) SIAH1 targets the alternative splicing factor T-STAR for degradation by the proteasome. (PubMed id 15163637) 1, 3, 4 Venables J.P.... Elliott D.J. (2004) Structural analysis of Siah1 and its interactions with Siah-interacting protein (SIP). (PubMed id 12421809) 1, 3, 4 Matsuzawa S....Ely K.R. (2003) 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, 3, 4 Johnsen S.A....Spelsberg T.C. (2002) Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein. (PubMed id 11389840) 1, 3, 4 Liu J.... Matsunami N. (2001) Siah-1 facilitates ubiquitination and degradation of synphilin-1. (PubMed id 14506261) 1, 3, 4 Nagano Y.... Matsumoto M. (2003) Siah-1S, a novel splice variant of Siah-1 (seven in absentia homolog), counteracts Siah-1-mediated downregulation of beta- catenin. (PubMed id 17420721) 3, 4 Mei Y.... Wu M. (2007) The coiled-coil domain is the structural determinant for mammalian homologues of Drosophila Sina-mediated degradation of promyelocytic leukemia protein and other tripartite motif proteins by the proteasome. (PubMed id 14645235) 3, 4 Fanelli M.... Minucci S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004)
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Genome Databases showing SIAH1
(According to
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HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing SIAH1
(According to HUGE )
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Specialized Databases showing SIAH1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for SIAH1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for SIAH1:
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009