Format

Send to:

Choose Destination

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

Gene ID: 6477, updated on 8-Jul-2018
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 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]
Expression
Ubiquitous expression in placenta (RPKM 15.8), testis (RPKM 9.6) and 25 other tissues See more
Orthologs
See SIAH1 in Genome Data Viewer
Location:
16q12.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (48354581..48448435, 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 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

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

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 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
beta-catenin destruction complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 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
RING-type E3 ubiquitin transferase SIAH1
seven in absentia homolog 1
siah-1a
NP_001006611.1
NP_003022.3
XP_006721309.1
XP_011521581.1
XP_024306162.1
XP_024306163.1

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..29776
    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
    ENSP00000349156.3, OTTHUMP00000164188, ENST00000356721.3, OTTHUMT00000256840
    Conserved Domains (2) summary
    pfam03145
    Location:113309
    Sina; Seven in absentia protein family
    cd16751
    Location:70109
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
  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
    ENSP00000378214.2, OTTHUMP00000164189, ENST00000394725.2, OTTHUMT00000256841
    Conserved Domains (2) summary
    pfam03145
    Location:82278
    Sina; Seven in absentia protein family
    cd16751
    Location:3978
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    48354581..48448435 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523279.2XP_011521581.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    See identical proteins and their annotated locations for XP_011521581.1

    UniProtKB/Swiss-Prot
    Q8IUQ4
    Related
    ENSP00000456421.1, OTTHUMP00000253638, ENST00000568007.5
    Conserved Domains (2) summary
    pfam03145
    Location:82278
    Sina; Seven in absentia protein family
    cd16751
    Location:3978
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
  2. XM_024450394.1XP_024306162.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    Conserved Domains (2) summary
    pfam03145
    Location:82278
    Sina; Seven in absentia protein family
    cd16751
    Location:3978
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
  3. XM_006721246.2XP_006721309.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    See identical proteins and their annotated locations for XP_006721309.1

    UniProtKB/Swiss-Prot
    Q8IUQ4
    Conserved Domains (2) summary
    pfam03145
    Location:82278
    Sina; Seven in absentia protein family
    cd16751
    Location:3978
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
  4. XM_024450395.1XP_024306163.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    Conserved Domains (2) summary
    pfam03145
    Location:82278
    Sina; Seven in absentia protein family
    cd16751
    Location:3978
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
Support Center