Seroatlas · Human Serome Atlas

SIAH1

E3 ubiquitin-protein ligase SIAH1

Also known as: hSIAH1, SIAH1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8IUQ4
Gene
SIAH1
Ensembl
ENSG00000196470
Chromosome
16
Canonical length
282 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Nucleoplasm,Mitochondria
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

282 residues, UniProt reviewed canonical sequence.

>Q8IUQ4|SIAH1
     1  MSRQTATALP TGTSKCPPSQ RVPALTGTTA SNNDLASLFE CPVCFDYVLP PILQCQSGHL
    61  VCSNCRPKLT CCPTCRGPLG SIRNLAMEKV ANSVLFPCKY ASSGCEITLP HTEKADHEEL
   121  CEFRPYSCPC PGASCKWQGS LDAVMPHLMH QHKSITTLQG EDIVFLATDI NLPGAVDWVM
   181  MQSCFGFHFM LVLEKQEKYD GHQQFFAIVQ LIGTRKQAEN FAYRLELNGH RRRLTWEATP
   241  RSIHEGIATA IMNSDCLVFD TSIAQLFAEN GNLGINVTIS MC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SIAH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
47 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 47 nTPM
  • bone marrow: 27 nTPM
  • adipose tissue: 23 nTPM
  • liver: 22 nTPM
  • breast: 22 nTPM
  • testis: 22 nTPM

Single-cell type

  • syncytiotrophoblasts: 1,087 nCPM
  • cytotrophoblasts: 302 nCPM
  • early spermatids: 287 nCPM
  • migrating cytotrophoblasts: 142 nCPM
  • neutrophils: 140 nCPM
  • late spermatids: 139 nCPM

Immune cell

  • eosinophil: 36 nTPM
  • memory B-cell: 21 nTPM
  • naive B-cell: 19 nTPM
  • basophil: 14 nTPM
  • myeloid DC: 13 nTPM
  • plasmacytoid DC: 13 nTPM

Brain region

  • white matter: 29 nTPM
  • cerebellum: 29 nTPM
  • midbrain: 26 nTPM
  • medulla oblongata: 24 nTPM
  • thalamus: 24 nTPM
  • basal ganglia: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SIAH1.

Disease | AllUniProt

Conditions SIAH1 is implicated in, by any mechanism.

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 68 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.5
gnomAD pLI
0.7
gnomAD missense Z
3.23
DepMap mean gene effect
0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SIAH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SIAH1 as an antibody target. Whether an autoantibody or antibody against SIAH1 could matter depends on whether native SIAH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SIAH1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SIAH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SIAH1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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