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    SIAH1 siah E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

    Gene ID: 6477, updated on 9-Jun-2016
    Official Symbol
    SIAH1provided by HGNC
    Official Full Name
    siah E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC: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
    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]
    Orthologs
    Location:
    16q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (48360531..48448440, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (48394442..48419229, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily C 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
      Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • 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...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • 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...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • 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...
    • Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystem (from WikiPathways)
      Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystemThis pathway describes the Parkin-Ubiquitin proteasome degradation system.
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ08065

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ligase activity 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
    PubMed 
    ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    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
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    proteasome-mediated 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 polyubiquitination TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein ubiquitination involved in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    beta-catenin destruction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    E3 ubiquitin-protein ligase SIAH1
    Names
    seven in absentia homolog 1
    siah-1a
    NP_001006611.1
    NP_003022.3

    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

      See identical proteins and their annotated locations for NP_001006611.1

      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 (2) summary
      cd03829
      Location:186312
      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 ...
      pfam13923
      Location:72106
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    2. NM_003031.3NP_003022.3  E3 ubiquitin-protein ligase SIAH1 isoform a

      See identical proteins and their annotated locations for NP_003022.3

      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 (2) summary
      cd03829
      Location:155281
      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 ...
      pfam13923
      Location:4175
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      48360531..48448440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523279.1XP_011521581.1  

      See identical proteins and their annotated locations for XP_011521581.1

      UniProtKB/Swiss-Prot
      Q8IUQ4
      Related
      ENSP00000456421, OTTHUMP00000253638, ENST00000568007, OTTHUMT00000429914
      Conserved Domains (2) summary
      cd03829
      Location:155281
      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 ...
      pfam13923
      Location:4175
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    2. XM_006721246.1XP_006721309.1  

      See identical proteins and their annotated locations for XP_006721309.1

      UniProtKB/Swiss-Prot
      Q8IUQ4
      Conserved Domains (2) summary
      cd03829
      Location:155281
      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 ...
      pfam13923
      Location:4175
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      49802241..49826886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)