SIAH1

E3 ubiquitin-protein ligase SIAH1 is an enzyme that in humans is encoded by the SIAH1 gene.^[5][6]

SIAH1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2A25, 4C9Z, 4CA1, 4I7B, 4I7C, 4I7D, 4X3G
Identifiers
Aliases	SIAH1, SIAH1A, siah E3 ubiquitin protein ligase 1, BURHAS
External IDs	OMIM: 602212; MGI: 108064; HomoloGene: 20654; GeneCards: SIAH1; OMA:SIAH1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.1 Start 48,356,364 bp[1] End 48,448,402 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 C3|8 42.1 cM Start 87,450,635 bp[2] End 87,472,562 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte endothelial cell ganglionic eminence amniotic fluid skin of hip placenta germinal epithelium gonad retinal pigment epithelium skin of thigh Top expressed in secondary oocyte medial ganglionic eminence Rostral migratory stream primary oocyte barrel cortex hair follicle spermatocyte retinal pigment epithelium sexually immature organism zygote More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding identical protein binding ubiquitin protein ligase activity protein binding zinc ion binding transferase activity ubiquitin-protein transferase activity protein C-terminus binding ubiquitin conjugating enzyme binding Cellular component beta-catenin destruction complex cytoplasm nucleus early endosome cytosol plasma membrane Biological process cell cycle spermatogenesis axon guidance multicellular organism development anatomical structure morphogenesis positive regulation of intrinsic apoptotic signaling pathway apoptotic process protein catabolic process positive regulation of apoptotic process nervous system development protein ubiquitination cell differentiation protein polyubiquitination proteasome-mediated ubiquitin-dependent protein catabolic process protein destabilization neuron apoptotic process ubiquitin-dependent protein catabolic process negative regulation of netrin-activated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6477 20437 Ensembl ENSG00000196470 ENSMUSG00000036840 UniProt Q8IUQ4 P61092 RefSeq (mRNA) NM_001006610 NM_003031 NM_001006611 NM_009172 RefSeq (protein) NP_001006611 NP_003022 NP_033198 Location (UCSC) Chr 16: 48.36 – 48.45 Mb Chr 8: 87.45 – 87.47 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes for a polypeptide structure 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.^[7]

Interactions

SIAH1 has been shown to interact with:

• APC,^[8]
• BAG1,^[9]
• CACYBP,^[10]
• KHDRBS3,^[11][12]
• KIF22,^[13]
• NUMB,^[14]
• PEG10,^[15]
• PEG3^[16]
• POU2AF1,^[17]
• RBBP8,^[18] and
• TRIB3.^[19]