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

Gene ID: 6477, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:10857
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
BURHAS; 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
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Genomic context

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See SIAH1 in Genome Data Viewer
Location:
16q12.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (48360531..48387246, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (54157789..54184345, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (48394442..48419324, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48198931-48199432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48199433-48199932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7452 Neighboring gene Sharpr-MPRA regulatory region 3115 Neighboring gene ATP binding cassette subfamily C member 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10791 Neighboring gene lon peptidase 2, peroxisomal Neighboring gene NANOG hESC enhancer GRCh37_chr16:48317173-48317699 Neighboring gene Sharpr-MPRA regulatory region 13528 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48353112-48353734 Neighboring gene NANOG hESC enhancer GRCh37_chr16:48370410-48370911 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48399426-48400088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48411713-48412214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:48432985-48433730 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:48450115-48450902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10793 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:48465998-48466542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48489683-48490182 Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Inactivating mutations of the Siah-1 gene in gastric cancer. Kim CJ, et al. Oncogene, 2004 Nov 11. PMID 15467739
  2. Two high-resolution structures of the human E3 ubiquitin ligase Siah1. Rimsa V, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2013 Dec. PMID 24316825, Free PMC Article
  3. SIAH1 induced apoptosis by activation of the JNK pathway and inhibited invasion by inactivation of the ERK pathway in breast cancer cells. Wen YY, et al. Cancer Sci, 2010 Jan. PMID 19775288, Free PMC Article
  4. [Reduced expression of the E3-ubiquitin ligase seven in absentia homologue (SIAH)-1 in human hepatocellular carcinoma]. Brauckhoff A, et al. Verh Dtsch Ges Pathol, 2007. PMID 18314624
  5. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. Buratti J, et al. J Med Genet, 2021 Mar. PMID 32430360

See all (197) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deficiency of SIAH1 promotes the formation of filopodia by increasing the accumulation of FASN in liver cancer.
    Title: Deficiency of SIAH1 promotes the formation of filopodia by increasing the accumulation of FASN in liver cancer.
  2. SIAH1 Promotes the Pyroptosis of Cardiomyocytes in Diabetic Cardiomyopathy via Regulating IkappaB-alpha/NF-kappacapital VE, Cyrillic Signaling.
    Title: SIAH1 Promotes the Pyroptosis of Cardiomyocytes in Diabetic Cardiomyopathy via Regulating IκB-α/NF-κВ Signaling.
  3. FRK inhibits glioblastoma progression via phosphorylating YAP and inducing its ubiquitylation and degradation by Siah1.
    Title: FRK inhibits glioblastoma progression via phosphorylating YAP and inducing its ubiquitylation and degradation by Siah1.
  4. Siah1 promotes the proliferation of NSCLC cells through ubiquitinating and stabilizing Notch1.
    Title: Siah1 promotes the proliferation of NSCLC cells through ubiquitinating and stabilizing Notch1.
  5. SIAH1 promotes senescence and apoptosis of nucleus pulposus cells to exacerbate disc degeneration through ubiquitinating XIAP.
    Title: SIAH1 promotes senescence and apoptosis of nucleus pulposus cells to exacerbate disc degeneration through ubiquitinating XIAP.
  6. Reactive oxygen species-induced SIAH1 promotes granulosa cells' senescence in premature ovarian failure.
    Title: Reactive oxygen species-induced SIAH1 promotes granulosa cells' senescence in premature ovarian failure.
  7. Proteasomal activator 28 gamma stabilizes hepatitis B virus X protein by competitively inhibiting the Siah-1-mediated proteasomal degradation.
    Title: Proteasomal activator 28 gamma stabilizes hepatitis B virus X protein by competitively inhibiting the Siah-1-mediated proteasomal degradation.
  8. miR-129-5p Ameliorates Ischemic Brain Injury by Binding to SIAH1 and Activating the mTOR Signaling Pathway.
    Title: miR-129-5p Ameliorates Ischemic Brain Injury by Binding to SIAH1 and Activating the mTOR Signaling Pathway.
  9. Siah1 in cancer and nervous system diseases (Review).
    Title: Siah1 in cancer and nervous system diseases (Review).
  10. Hepatitis C virus core protein inhibits hepatitis B virus replication by downregulating HBx levels via Siah-1-mediated proteasomal degradation during coinfection.
    Title: Hepatitis C virus core protein inhibits hepatitis B virus replication by downregulating HBx levels via Siah-1-mediated proteasomal degradation during coinfection.
Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Buratti-Harel syndrome
MedGen: C5543351 OMIM: 619314 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ08065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
  
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in amyloid fibril formation TAS
Traceable Author Statement
more info
  
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in axon guidance TAS
Traceable Author Statement
more info
 PubMed 
involved_in canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of beta-catenin destruction complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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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_024306163.1
XP_054169685.1
XP_054169686.1

NCBI Reference Sequences (RefSeq)

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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
    4906..29788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001006610.2 → NP_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)
    AC023818, BC042550, BX357983, BX647064, CN360509
    Consensus CDS
    CCDS32444.1
    UniProtKB/TrEMBL
    B2R9P2, B5BU17
    Related
    ENSP00000349156.3, ENST00000356721.3
    Conserved Domains (2) summary
    cd16751
    Location:70 → 109
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
    pfam03145
    Location:113 → 309
    Sina; Seven in absentia protein family

  2. NM_003031.4 → NP_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)
    AC023818, BC018193, BC035562
    Consensus CDS
    CCDS10735.1
    UniProtKB/Swiss-Prot
    A0FKF3, O43269, Q49A58, Q8IUQ4, Q92880
    UniProtKB/TrEMBL
    B2R9P2, B5BU17
    Related
    ENSP00000378214.2, ENST00000394725.3
    Conserved Domains (2) summary
    cd16751
    Location:39 → 78
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
    pfam03145
    Location:82 → 278
    Sina; Seven in absentia protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    48360531..48387246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721246.3 → XP_006721309.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    See identical proteins and their annotated locations for XP_006721309.1

    UniProtKB/Swiss-Prot
    A0FKF3, O43269, Q49A58, Q8IUQ4, Q92880
    UniProtKB/TrEMBL
    B2R9P2, B5BU17
    Related
    ENSP00000456421.1, ENST00000568007.5
    Conserved Domains (2) summary
    cd16751
    Location:39 → 78
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
    pfam03145
    Location:82 → 278
    Sina; Seven in absentia protein family

  2. XM_024450395.2 → XP_024306163.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    UniProtKB/Swiss-Prot
    A0FKF3, O43269, Q49A58, Q8IUQ4, Q92880
    UniProtKB/TrEMBL
    B2R9P2, B5BU17
    Related
    ENSP00000369343.2, ENST00000380006.2
    Conserved Domains (2) summary
    cd16751
    Location:39 → 78
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
    pfam03145
    Location:82 → 278
    Sina; Seven in absentia protein family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    54157789..54184345 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313710.1 → XP_054169685.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    UniProtKB/Swiss-Prot
    A0FKF3, O43269, Q49A58, Q8IUQ4, Q92880

  2. XM_054313711.1 → XP_054169686.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

    UniProtKB/Swiss-Prot
    A0FKF3, O43269, Q49A58, Q8IUQ4, Q92880

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001006611.1: Suppressed sequence

    Description
    NM_001006611.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUQ4.2 GenPept UniProtKB/Swiss-Prot:Q8IUQ4

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