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

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; 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: mouse all
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Genomic context

Location:: 16q12.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (48360531..48387246, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (54157789..54184345, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (48394442..48419324, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
Siah1 in cancer and nervous system diseases (Review).
Title: Siah1 in cancer and nervous system diseases (Review).
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.
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
Title: De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
TRAF4, a new substrate of SIAH1, participates in chemotherapy resistance of breast cancer cell by counteracting SIAH1-mediated downregulation of beta-catenin.
Title: TRAF4, a new substrate of SIAH1, participates in chemotherapy resistance of breast cancer cell by counteracting SIAH1-mediated downregulation of β-catenin.

Submit: New GeneRIF Correction See all GeneRIFs (87)

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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20682 (e-PCR)
- UniSTS:20485

RH68358 (e-PCR)
- UniSTS:48689

D8S2279 (e-PCR)
- UniSTS:473907

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

RH68065 (e-PCR)
- UniSTS:60064

SIAH1_2345 (e-PCR)
- UniSTS:280995

PMC149152P1 (e-PCR)
- UniSTS:271027

RH17142 (e-PCR)
- UniSTS:85949

RH64986 (e-PCR)
- UniSTS:89046

RH75389 (e-PCR)
- UniSTS:84189

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 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
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

EC 2.3.2.27

NP_003022.3

EC 2.3.2.27

XP_006721309.1

EC 2.3.2.27

XP_024306163.1

EC 2.3.2.27

XP_054169685.1

EC 2.3.2.27

XP_054169686.1

EC 2.3.2.27

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

NG_029599.1 RefSeqGene

Range

4906..29788

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

48360531..48387246 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060940.1 Alternate T2T-CHM13v2.0

Range

54157789..54184345 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A0FKF3, O43269, Q49A58, Q8IUQ4, Q92880
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

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.