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

Gene ID: 6477, updated on 6-Sep-2021

Summary

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
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

See SIAH1 in Genome Data Viewer
Location:
16q12.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (48354581..48448435, complement)
105.20201022 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 lon peptidase 2, peroxisomal Neighboring gene Sharpr-MPRA regulatory region 13528 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 C-terminus 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
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
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 cell cycle IEA
Inferred from Electronic Annotation
more info
 
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
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 destabilization IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_001006610.2NP_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/Swiss-Prot
    Q8IUQ4
    Related
    ENSP00000349156.3, ENST00000356721.3
    Conserved Domains (2) summary
    cd16751
    Location:70109
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
    pfam03145
    Location:113309
    Sina; Seven in absentia protein family
  2. NM_003031.4NP_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
    Q8IUQ4
    Related
    ENSP00000378214.2, ENST00000394725.3
    Conserved Domains (2) summary
    cd16751
    Location:3978
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
    pfam03145
    Location:82278
    Sina; Seven in absentia protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 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, ENST00000568007.5
    Conserved Domains (2) summary
    cd16751
    Location:3978
    RING-HC_SIAH1; RING finger, HC subclass, found in seven in absentia homolog 1 (SIAH1) and similar proteins
    pfam03145
    Location:82278
    Sina; Seven in absentia protein family
  2. XM_024450394.1XP_024306162.1  E3 ubiquitin-protein ligase SIAH1 isoform X1

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

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

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 info@ncbi.nlm.nih.gov for further information.
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