Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6477
Gene name	Siah E3 ubiquitin protein ligase 1
Gene symbol	SIAH1
Synonyms (NCBI Gene)	BURHASSIAH1A
Chromosome	16
Chromosome location	16q12.1
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005887	hsa-miR-424-5p	ImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot	21062812
MIRT005887	hsa-miR-424-5p	ImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot	21062812
MIRT037958	hsa-miR-505-5p	CLASH	23622248
MIRT438184	hsa-miR-135a-5p	Luciferase reporter assay	24503442
MIRT438184	hsa-miR-135a-5p	Luciferase reporter assay	24503442
MIRT438184	hsa-miR-135a-5p	Luciferase reporter assayWestern blotting	33134300
MIRT1348114	hsa-miR-1262	CLIP-seq
MIRT1348115	hsa-miR-141	CLIP-seq
MIRT1348116	hsa-miR-193a-3p	CLIP-seq
MIRT1348117	hsa-miR-193b	CLIP-seq
MIRT1348118	hsa-miR-200a	CLIP-seq
MIRT1348119	hsa-miR-2115	CLIP-seq
MIRT1348120	hsa-miR-3074-5p	CLIP-seq
MIRT1348121	hsa-miR-329	CLIP-seq
MIRT1348122	hsa-miR-3591-5p	CLIP-seq
MIRT1348123	hsa-miR-3613-3p	CLIP-seq
MIRT1348124	hsa-miR-362-3p	CLIP-seq
MIRT1348125	hsa-miR-3662	CLIP-seq
MIRT1348126	hsa-miR-374c	CLIP-seq
MIRT1348127	hsa-miR-4255	CLIP-seq
MIRT1348128	hsa-miR-4435	CLIP-seq
MIRT1348129	hsa-miR-4455	CLIP-seq
MIRT1348130	hsa-miR-452	CLIP-seq
MIRT1348131	hsa-miR-4637	CLIP-seq
MIRT1348132	hsa-miR-4652-3p	CLIP-seq
MIRT1348133	hsa-miR-4670-3p	CLIP-seq
MIRT1348134	hsa-miR-4676-3p	CLIP-seq
MIRT1348135	hsa-miR-4677-3p	CLIP-seq
MIRT1348136	hsa-miR-4679	CLIP-seq
MIRT1348137	hsa-miR-4699-3p	CLIP-seq
MIRT1348138	hsa-miR-4701-3p	CLIP-seq
MIRT1348139	hsa-miR-4738-3p	CLIP-seq
MIRT1348140	hsa-miR-4742-3p	CLIP-seq
MIRT1348141	hsa-miR-486-5p	CLIP-seq
MIRT1348142	hsa-miR-516a-3p	CLIP-seq
MIRT1348143	hsa-miR-522	CLIP-seq
MIRT1348144	hsa-miR-609	CLIP-seq
MIRT1348145	hsa-miR-635	CLIP-seq
MIRT1348146	hsa-miR-655	CLIP-seq
MIRT1348147	hsa-miR-656	CLIP-seq
MIRT1348148	hsa-miR-891b	CLIP-seq
MIRT1348149	hsa-miR-1275	CLIP-seq
MIRT1348150	hsa-miR-1283	CLIP-seq
MIRT1348151	hsa-miR-1305	CLIP-seq
MIRT1348152	hsa-miR-1323	CLIP-seq
MIRT1348153	hsa-miR-15a	CLIP-seq
MIRT1348154	hsa-miR-15b	CLIP-seq
MIRT1348155	hsa-miR-16	CLIP-seq
MIRT1348156	hsa-miR-195	CLIP-seq
MIRT1348157	hsa-miR-3065-5p	CLIP-seq
MIRT1348158	hsa-miR-3148	CLIP-seq
MIRT1348121	hsa-miR-329	CLIP-seq
MIRT1348159	hsa-miR-340	CLIP-seq
MIRT1348124	hsa-miR-362-3p	CLIP-seq
MIRT1348160	hsa-miR-3920	CLIP-seq
MIRT1348161	hsa-miR-3924	CLIP-seq
MIRT1348162	hsa-miR-421	CLIP-seq
MIRT1348163	hsa-miR-424	CLIP-seq
MIRT1348164	hsa-miR-4269	CLIP-seq
MIRT1348165	hsa-miR-4506	CLIP-seq
MIRT1348166	hsa-miR-4525	CLIP-seq
MIRT1348167	hsa-miR-4665-5p	CLIP-seq
MIRT1348168	hsa-miR-4666-3p	CLIP-seq
MIRT1348169	hsa-miR-4668-5p	CLIP-seq
MIRT1348170	hsa-miR-4723-5p	CLIP-seq
MIRT1348171	hsa-miR-495	CLIP-seq
MIRT1348172	hsa-miR-497	CLIP-seq
MIRT1348173	hsa-miR-532-3p	CLIP-seq
MIRT1348174	hsa-miR-548ac	CLIP-seq
MIRT1348175	hsa-miR-548d-3p	CLIP-seq
MIRT1348176	hsa-miR-548o	CLIP-seq
MIRT1348177	hsa-miR-548z	CLIP-seq
MIRT1348178	hsa-miR-603	CLIP-seq
MIRT1348179	hsa-miR-625	CLIP-seq
MIRT1348180	hsa-miR-662	CLIP-seq
MIRT1348130	hsa-miR-452	CLIP-seq
MIRT1348134	hsa-miR-4676-3p	CLIP-seq
MIRT2103155	hsa-miR-4641	CLIP-seq
MIRT2103156	hsa-miR-548c-3p	CLIP-seq
MIRT1348114	hsa-miR-1262	CLIP-seq
MIRT2327429	hsa-miR-135a	CLIP-seq
MIRT2327430	hsa-miR-135b	CLIP-seq
MIRT1348115	hsa-miR-141	CLIP-seq
MIRT1348116	hsa-miR-193a-3p	CLIP-seq
MIRT1348117	hsa-miR-193b	CLIP-seq
MIRT1348118	hsa-miR-200a	CLIP-seq
MIRT1348119	hsa-miR-2115	CLIP-seq
MIRT2327431	hsa-miR-223	CLIP-seq
MIRT1348158	hsa-miR-3148	CLIP-seq
MIRT1348121	hsa-miR-329	CLIP-seq
MIRT1348124	hsa-miR-362-3p	CLIP-seq
MIRT1348126	hsa-miR-374c	CLIP-seq
MIRT1348164	hsa-miR-4269	CLIP-seq
MIRT2327432	hsa-miR-4426	CLIP-seq
MIRT1348128	hsa-miR-4435	CLIP-seq
MIRT1348129	hsa-miR-4455	CLIP-seq
MIRT1348165	hsa-miR-4506	CLIP-seq
MIRT2103155	hsa-miR-4641	CLIP-seq
MIRT2327433	hsa-miR-4647	CLIP-seq
MIRT2327434	hsa-miR-4662b	CLIP-seq
MIRT1348133	hsa-miR-4670-3p	CLIP-seq
MIRT2327435	hsa-miR-4697-3p	CLIP-seq
MIRT1348138	hsa-miR-4701-3p	CLIP-seq
MIRT1348139	hsa-miR-4738-3p	CLIP-seq
MIRT2327436	hsa-miR-4776-3p	CLIP-seq
MIRT1348142	hsa-miR-516a-3p	CLIP-seq
MIRT1348174	hsa-miR-548ac	CLIP-seq
MIRT1348175	hsa-miR-548d-3p	CLIP-seq
MIRT1348177	hsa-miR-548z	CLIP-seq
MIRT1348178	hsa-miR-603	CLIP-seq
MIRT1348144	hsa-miR-609	CLIP-seq
MIRT1348145	hsa-miR-635	CLIP-seq
MIRT1348146	hsa-miR-655	CLIP-seq
MIRT2327437	hsa-miR-935	CLIP-seq
MIRT2459346	hsa-miR-448	CLIP-seq
MIRT2459347	hsa-miR-586	CLIP-seq
MIRT2459346	hsa-miR-448	CLIP-seq
MIRT2459347	hsa-miR-586	CLIP-seq
MIRT2327429	hsa-miR-135a	CLIP-seq
MIRT2327430	hsa-miR-135b	CLIP-seq
MIRT2327431	hsa-miR-223	CLIP-seq
MIRT2622603	hsa-miR-3136-3p	CLIP-seq
MIRT1348158	hsa-miR-3148	CLIP-seq
MIRT1348121	hsa-miR-329	CLIP-seq
MIRT1348124	hsa-miR-362-3p	CLIP-seq
MIRT2622604	hsa-miR-3677-5p	CLIP-seq
MIRT1348164	hsa-miR-4269	CLIP-seq
MIRT2327432	hsa-miR-4426	CLIP-seq
MIRT2622605	hsa-miR-4519	CLIP-seq
MIRT2103155	hsa-miR-4641	CLIP-seq
MIRT2327433	hsa-miR-4647	CLIP-seq
MIRT2327434	hsa-miR-4662b	CLIP-seq
MIRT1348169	hsa-miR-4668-5p	CLIP-seq
MIRT2327435	hsa-miR-4697-3p	CLIP-seq
MIRT2622606	hsa-miR-4719	CLIP-seq
MIRT1348140	hsa-miR-4742-3p	CLIP-seq
MIRT1348171	hsa-miR-495	CLIP-seq
MIRT1348173	hsa-miR-532-3p	CLIP-seq
MIRT1348174	hsa-miR-548ac	CLIP-seq
MIRT1348175	hsa-miR-548d-3p	CLIP-seq
MIRT1348177	hsa-miR-548z	CLIP-seq
MIRT1348178	hsa-miR-603	CLIP-seq
MIRT1348180	hsa-miR-662	CLIP-seq
MIRT2622607	hsa-miR-663b	CLIP-seq
MIRT2327437	hsa-miR-935	CLIP-seq
MIRT2327429	hsa-miR-135a	CLIP-seq
MIRT2327430	hsa-miR-135b	CLIP-seq
MIRT2327431	hsa-miR-223	CLIP-seq
MIRT2622603	hsa-miR-3136-3p	CLIP-seq
MIRT1348158	hsa-miR-3148	CLIP-seq
MIRT1348121	hsa-miR-329	CLIP-seq
MIRT1348124	hsa-miR-362-3p	CLIP-seq
MIRT2622604	hsa-miR-3677-5p	CLIP-seq
MIRT1348164	hsa-miR-4269	CLIP-seq
MIRT2327432	hsa-miR-4426	CLIP-seq
MIRT2622605	hsa-miR-4519	CLIP-seq
MIRT2103155	hsa-miR-4641	CLIP-seq
MIRT2327433	hsa-miR-4647	CLIP-seq
MIRT2327434	hsa-miR-4662b	CLIP-seq
MIRT1348169	hsa-miR-4668-5p	CLIP-seq
MIRT2327435	hsa-miR-4697-3p	CLIP-seq
MIRT2622606	hsa-miR-4719	CLIP-seq
MIRT1348140	hsa-miR-4742-3p	CLIP-seq
MIRT1348174	hsa-miR-548ac	CLIP-seq
MIRT1348175	hsa-miR-548d-3p	CLIP-seq
MIRT1348177	hsa-miR-548z	CLIP-seq
MIRT2622607	hsa-miR-663b	CLIP-seq
MIRT2327437	hsa-miR-935	CLIP-seq

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Transcription factor	Regulation	Reference
EHMT2	Repression	21847359
TP53	Unknown	20421190

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	21185211
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	11389840, 11483518, 16085652, 16230351, 19549727, 21078624, 21185211, 21516116, 21878328, 21988832, 23840749, 25416956, 25910212, 26871637, 28546513, 32296183, 32814053, 33591310
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9334332
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	23001567
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	9403064
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	TAS	9334332
GO:0007411	Process	Axon guidance	TAS	9334332
GO:0008270	Function	Zinc ion binding	IDA	11863358, 16085652
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9403064
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030163	Process	Protein catabolic process	IDA	11389840
GO:0030877	Component	Beta-catenin destruction complex	IDA	16085652
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IBA
GO:0031648	Process	Protein destabilization	IEA
GO:0042802	Function	Identical protein binding	IPI	21988832, 22493164, 25416956
GO:0043065	Process	Positive regulation of apoptotic process	IDA	21185211
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	33591310
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	28546513
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051402	Process	Neuron apoptotic process	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	28546513, 32430360
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	23001567
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	28546513
GO:1990000	Process	Amyloid fibril formation	IEA
GO:1990000	Process	Amyloid fibril formation	TAS
GO:2001233	Process	Regulation of apoptotic signaling pathway	IEA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	21185211

MIM	HGNC	e!Ensembl
602212	10857	ENSG00000196470

Q8IUQ4

Protein name

E3 ubiquitin-protein ligase SIAH1 (EC 2.3.2.27) (RING-type E3 ubiquitin transferase SIAH1) (Seven in absentia homolog 1) (Siah-1) (Siah-1a)

Protein function

E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:224

PDB

2A25 , 4C9Z , 4CA1 , 4I7B , 4I7C , 4I7D , 4X3G , 5WZZ , 8HEO , 9G0L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03145	Sina	82 → 278	Seven in absentia protein family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at a low level. Down-regulated in advanced hepatocellular carcinomas. {ECO:0000269|PubMed:12557228, ECO:0000269|PubMed:9403064}.

Sequence

MSRQTATALPTGTSKCPPSQRVPALTGTTASNNDLASLFECPVCFDYVLPPILQCQSGHL
VCSNCRPKLTCCPTCRGPLGSIRNLAMEKVANSVLFPCKYASSGCEITLPHTEKADHEEL
CEFRPYSCPCPGASCKWQGSLDAVMPHLMHQHKSITTLQGEDIVFLATDINLPGAVDWVM
MQSCFGFHFMLVLEKQEKYDGHQQFFAIVQLIGTRKQAENFAYRLELNGHRRRLTWEATP
RSIHEGIATAIMNSDCLVFDTSIAQLFAENGNLGINVTISMC

Sequence length

282

Interactions

View interactions

	KEGG		Reactome
	p53 signaling pathway Ubiquitin mediated proteolysis Mitophagy - animal Wnt signaling pathway		Netrin-1 signaling Amyloid fiber formation Antigen processing: Ubiquitination & Proteasome degradation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Buratti-Harel syndrome	Pathogenic; Likely pathogenic	rs2151043918, rs2151044011, rs2151044152, rs2151043908, rs2151044134, rs2151043928, rs2544514083	RCV001398834 RCV001398836 RCV001398838 RCV001398840 RCV001398841 RCV002249166 RCV004555198	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2151044134	RCV001779165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	19775288, 20144232, 20682032, 26654769, 27377268, 31171715	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Inhibit	21062812	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	32774060	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	21878328	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	35961388	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	35951361	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	36385010	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	32774060	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Associate	28600779	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Associate	26438826	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	16492755	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Stimulate	30796178	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	35723276	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	30796178	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Associate	37686160	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Stimulate	21466614	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infections	Associate	19091460	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	28600779	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Associate	35960109	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell	Associate	19091460	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Large B Cell Diffuse	Inhibit	21062812	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	36534449	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	23228635	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	35951361	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	11852084, 19775288, 20144232, 21062812, 30552230, 35723276	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	12399545, 21847359, 23228635, 32774060, 35951361, 35961388	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Associate	20215420	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ossification Heterotopic	Associate	33391181	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Inhibit	35951361	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	26722480	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Associate	35261172	★★★★★ ★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	Associate	35261172	★★★★★ ★☆☆☆☆ Found in Text Mining only

SIAH1 (siah E3 ubiquitin protein ligase 1)