Display Settings:

Format

Send to:

Choose Destination

    SIAH1 siah E3 ubiquitin protein ligase 1 [ Homo sapiens ]

    Gene ID: 6477, updated on 19-May-2012

    Summary

    Official Symbol
    SIAH1provided by HGNC
    Official Full Name
    siah E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC:10857
    See related
    Ensembl:ENSG00000196470; HPRD:03736; MIM:602212; Vega:OTTHUMG00000175417
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SIAH1A; FLJ08065
    Summary
    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]

    Genomic context

    Location :
    16q12
    Sequence :
    Chromosome: 16; NC_000016.9 (48394442..48419229, complement)
    See SIAH1 in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene ATP-binding cassette, sub-family C (CFTR/MRP), member 11 Neighboring gene lon peptidase 2, peroxisomal Neighboring gene uncharacterized LOC100507577 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene molybdenum cofactor synthesis 1 pseudogene 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_003022.2 NP_005206.1 DCC    BIND  PubMed DCC interacts with Siah-1. 
    NP_003022.2 NP_005206.1 DCC    BIND  PubMed hSiah1 interacts with DCC cytoplasmic domain. 
    NP_003022.2 NP_003336.1 UBE2I    BIND  PubMed Ubc9 interacts with Siah-1. 
    NP_003022.2 NP_003336.1 UBE2I    BIND  PubMed hSiah1 interacts with Ubc9. 
    Q8IUQ4 P51825 AFF1    HPRD  PubMed  
    Q8IUQ4 Q9UHB7 AFF4    HPRD  PubMed  
    Q8IUQ4 P25054 APC    HPRD  PubMed  
    Q8IUQ4 P54259 ATN1    HPRD  PubMed  
    Q8IUQ4 Q99933 BAG1    HPRD  PubMed  
    Q8IUQ4 Q9HB71 CACYBP    HPRD  PubMed  
    Q8IUQ4 O75553 DAB1    HPRD  PubMed  
    Q8IUQ4 P43146 DCC    HPRD  PubMed  
    Q8IUQ4 O75822 EIF3J    HPRD  PubMed  
    Q8IUQ4 P04406 GAPDH    HPRD  PubMed  
    Q8IUQ4 Q9H422 HIPK3    HPRD  PubMed  
    Q8IUQ4 O75525 KHDRBS3    HPRD  PubMed  
    Q8IUQ4 Q14807 KIF22    HPRD  PubMed  
    Q8IUQ4 P49757 NUMB    HPRD  PubMed  
    Q8IUQ4 Paternally expressed 10 PEG10    HPRD  PubMed  
    Q8IUQ4 Q9GZU2 PEG3    HPRD  PubMed  
    Q8IUQ4 P98161 PKD1    HPRD  PubMed  
    Q8IUQ4 Q16633 POU2AF1    HPRD  PubMed  
    Q8IUQ4 Q99708 RBBP8    HPRD  PubMed  
    Q8IUQ4 SH3 multiple domains 2 SH3RF1    HPRD  PubMed  
    Q8IUQ4 Q8IUQ4 SIAH1    HPRD  PubMed  
    Q8IUQ4 Q15599 SLC9A3R2    HPRD  PubMed  
    Q8IUQ4 Q9Y6H5 SNCAIP    HPRD  PubMed  
    Q8IUQ4 P08247 SYP    HPRD  PubMed  
    Q8IUQ4 Q71U36 TUBA1A    HPRD  PubMed  
    Q8IUQ4 P68363 TUBA1B    HPRD  PubMed  
    Q8IUQ4 Q13748 TUBA3C    HPRD  PubMed  
    Q8IUQ4 P68366 TUBA4A    HPRD  PubMed  
    Q8IUQ4 Q9NY65 TUBA8    HPRD  PubMed  
    Q8IUQ4 P51668 UBE2D1    HPRD  PubMed  
    BioGRID:112372 BioGRID:118016 AFF4    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:106821 APC    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112372 BioGRID:112221 ATXN7    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:107049 BAG1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:118001 CACYBP    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:107880 CTNNB1    BioGRID  PubMed Biochemical Activity 
    BioGRID:112372 BioGRID:107970 DAB1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:107998 DCC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112372 BioGRID:108256 EEF1D    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112372 BioGRID:108610 FLT3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112372 BioGRID:115060 HERPUD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:120794 HIF1AN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:118815 HIPK2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:115899 KHDRBS3    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:110033 KIF22    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:114202 NUMB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:121134 PARD3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:116717 PEG10    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:111204 PEG3    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:112372 BioGRID:108234 PHC2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112372 BioGRID:114124 PIAS1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:114523 PIAS2    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:115673 PIAS3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112372 BioGRID:111327 PKD1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:112372 BioGRID:119370 PLCE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:111384 PML    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:111446 POU2AF1    BioGRID  PubMed Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:111678 PSMC5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:111679 PSMC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:111849 RARA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:111867 RBBP8    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:112372 BioGRID:971427 RL2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:112372 BioGRID:119319 RLIM    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:107309 RUNX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:111415 SEPT4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:112372 SIAH1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-purification; Reconstituted Complex 
    BioGRID:112372 BioGRID:112506 SNCA    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:112372 BioGRID:114986 SNCAIP    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:112372 BioGRID:112721 SYP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112372 BioGRID:258681 Sncaip    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112372 BioGRID:112770 TBL1X    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112372 BioGRID:112873 TERF2    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:112372 BioGRID:121756 TRIB3    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:112372 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112372 BioGRID:113169 UBE2D1    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:113170 UBE2D2    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:113171 UBE2D3    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:119641 UBE2D4    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:113173 UBE2E2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112372 BioGRID:115740 UBE2E3    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:113177 UBE2I    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:109340 UBE2K    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:114672 UBE2L6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112372 BioGRID:113182 UBE2N    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:113184 UBE2V2    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:113252 VAV1    BioGRID  PubMed Two-hybrid 
    BioGRID:112372 BioGRID:106828 XIAP    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    • Homologs of the SIAH1 gene: The SIAH1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and A.thaliana.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
      Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Wnt signaling pathway, organism-specific biosystem (from KEGG)
      Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt signaling pathway, conserved biosystem (from KEGG)
      Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    ubiquitin-protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
     
    ubiquitin-protein ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron apoptosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
     
    positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
     
    proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein destabilization IEA
    Inferred from Electronic Annotation
    more info
     
    protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
     
    protein ubiquitination involved in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    beta-catenin destruction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane fraction IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase SIAH1
    Names
    E3 ubiquitin-protein ligase SIAH1
    siah-1a
    seven in absentia homolog 1
    NP_001006611.1
    NP_003022.3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029599.1 RefSeqGene

      Range
      5001..29788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001006610.1NP_001006611.1  E3 ubiquitin-protein ligase SIAH1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate 5' exon and uses an upstream AUG compared to variant 1. The resulting protein (isoform b) is longer and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      BC042550, BX357983, BX647064, CN360509
      Consensus CDS
      CCDS32444.1
      UniProtKB/Swiss-Prot
      Q8IUQ4
      Related
      ENSP00000349156, OTTHUMP00000164188, ENST00000356721, OTTHUMT00000256840
      Conserved Domains (3) summary
      cd03829
      Location:186312
      Blast Score: 609
      Sina; Seven in absentia (Sina) protein family, C-terminal substrate binding domain; composed of the Drosophila Sina protein, the mammalian Sina homolog (Siah), the plant protein SINAT5, and similar proteins. Sina, Siah and SINAT5 are RING-containing proteins ...
      pfam03145
      Location:113309
      Blast Score: 770
      Sina; Seven in absentia protein family
      pfam13923
      Location:70107
      Blast Score: 91
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    2. NM_003031.3NP_003022.3  E3 ubiquitin-protein ligase SIAH1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the smaller isoform (1).
      Source sequence(s)
      BC018193, BC035562
      Consensus CDS
      CCDS10735.1
      UniProtKB/Swiss-Prot
      Q8IUQ4
      Related
      ENSP00000378214, OTTHUMP00000164189, ENST00000394725, OTTHUMT00000256841
      Conserved Domains (3) summary
      cd03829
      Location:155281
      Blast Score: 606
      Sina; Seven in absentia (Sina) protein family, C-terminal substrate binding domain; composed of the Drosophila Sina protein, the mammalian Sina homolog (Siah), the plant protein SINAT5, and similar proteins. Sina, Siah and SINAT5 are RING-containing proteins ...
      pfam03145
      Location:82278
      Blast Score: 767
      Sina; Seven in absentia protein family
      pfam13923
      Location:3976
      Blast Score: 90
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      48394442..48419229, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      34285181..34290523, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC023818.5 (44233..69020) None
    genomic AJ400626.1 CAC35542.1
    genomic CH471092.1 EAW82726.1
      EAW82727.1
    mRNA AB451253.1 BAG70067.1
    mRNA AB451377.1 BAG70191.1
    mRNA AK023458.1 None
    mRNA AK094663.1 BAG52904.1
    mRNA AK225895.1 None
    mRNA AK313861.1 BAG36589.1
    mRNA BC018193.1 None
    mRNA BC035562.1 AAH35562.1
    mRNA BC042550.1 AAH42550.1
    mRNA BC044920.1 AAH44920.1
    mRNA BX357983.2 None
    mRNA BX647064.1 CAE46191.1
    mRNA CN360509.1 None
    mRNA EF026094.1 ABK15529.1
    mRNA U63295.1 AAC12950.1
    mRNA U76247.1 AAC51907.1
    other-genetic DQ890990.2 ABM81916.1
    other-genetic DQ894167.2 ABM85093.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUQ4.2 GenPept UniProtKB/Swiss-Prot:Q8IUQ4

      Supplemental Content

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...