SIAH1 - siah E3 ubiquitin protein ligase 1 Gene

中文名称：siah E3 泛素蛋白连接酶 1

种属: Homo sapiens

同用名: BURHAS; SIAH1A

基因 ID: 6477 | 基因类型: protein coding

关于 SIAH1

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:48,360,531-48,387,246 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 15.8), testis (RPKM 9.6) and 25 other tissues.

功能概要

该基因编码的蛋白质是七缺席同源物 (SIAH) 家族的成员。该蛋白质是一种 E3 连接酶，参与泛素化和蛋白酶体介导的特定蛋白质降解。这种泛素连接酶的活性与某些形式的帕金森病的发展、细胞对缺氧反应的调节和细胞凋亡的诱导有关。选择性剪接会产生几种额外的转录本变体，其中一些编码不同的亚型，而另一些则尚未完全表征。[RefSeq 提供，2008 年 7 月]

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]

SIAH1 基因产物(2)

mRNA	Protein	Name
NM_001006610.2	NP_001006611.1	E3 ubiquitin-protein ligase SIAH1 isoform b
NM_003031.4	NP_003022.3	E3 ubiquitin-protein ligase SIAH1 isoform a

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	21988832	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11389840	GOA
enables ubiquitin protein ligase activity	IDA IDA: 通过直接分析推断	23001567	GOA
enables ubiquitin protein ligase activity	IMP IMP: 通过突变表型推断	28546513	GOA
enables ubiquitin-protein transferase activity	IMP IMP: 通过突变表型推断	21185211	GOA
enables zinc ion binding	IDA IDA: 通过直接分析推断	11863358	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in canonical Wnt signaling pathway	IMP IMP: 通过突变表型推断	28546513	GOA
involved in positive regulation of apoptotic process	IDA IDA: 通过直接分析推断	21185211	GOA
involved in positive regulation of intrinsic apoptotic signaling pathway	IMP IMP: 通过突变表型推断	21185211	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	33591310	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	28546513	GOA
involved in protein catabolic process	IDA IDA: 通过直接分析推断	11389840	GOA
acts upstream of or within ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	23001567	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of beta-catenin destruction complex	IDA IDA: 通过直接分析推断	16085652	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SIAH1 蛋白结构

Sina

0
100
200
282 a.a.

蛋白主名

其他名称

E3 ubiquitin-protein ligase SIAH1

RING-type E3 ubiquitin transferase SIAH1

SIAH1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	SIAH1	Q8IUQ4	PRR20C	Homo sapiens	P86479	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ZBP1	Homo sapiens	A2RRL9	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	TP53BP2	Homo sapiens	Q13625-3	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	TP53BP2	Homo sapiens	Q13625-3	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	TP53BP2	Homo sapiens	Q13625-3	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	SYT7	Homo sapiens	O43581	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	INHA	Homo sapiens	P05111	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	INHA	Homo sapiens	P05111	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	MAB21L1	Homo sapiens	Q13394	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	MAB21L1	Homo sapiens	Q13394	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	CCDC198	Homo sapiens	Q9NVL8	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	CCDC198	Homo sapiens	Q9NVL8	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	q59gp6_human	Homo sapiens	Q59GP6	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	q59gp6_human	Homo sapiens	Q59GP6	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	TOLLIP	Homo sapiens	Q6FIE9	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	ARMC9	Homo sapiens	Q7Z3E5-2	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ARMC9	Homo sapiens	Q7Z3E5-2	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	AFF4	Homo sapiens	Q9UHB7-2	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	AFF4	Homo sapiens	Q9UHB7-2	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	AFF4	Homo sapiens	Q9UHB7-2	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	CDK5R1	Homo sapiens	Q8N619	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	CDK5R1	Homo sapiens	Q8N619	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	CDK5R1	Homo sapiens	Q8TAM4	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	NOL6	Homo sapiens	Q9H6R4-4	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	NOL6	Homo sapiens	Q9H6R4-4	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	DNAJC15	Homo sapiens	Q9Y5T4	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	DDX41	Homo sapiens	Q9UJV9	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ZNF512B	Homo sapiens	Q96KM6	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ZNF512B	Homo sapiens	Q96KM6	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	PUF60	Homo sapiens	Q9UHX1	Y2H	21988832
Intra	SIAH1	Q8IUQ4	PUF60	Homo sapiens	Q9UHX1	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	PUF60	Homo sapiens	Q9UHX1	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	RAD51AP1	Homo sapiens	Q96B01	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	RAD51AP1	Homo sapiens	Q96B01	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	RAD51AP1	Homo sapiens	Q96B01	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	RAD51AP1	Homo sapiens	Q96B01-2	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	PRPF31	Homo sapiens	Q8WWY3	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ZMAT3	Homo sapiens	Q9HA38	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	OPRM1	Homo sapiens	P35372	Y2H	23840749
Intra	SIAH1	Q8IUQ4	ZNF148	Homo sapiens	Q9UQR1	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	ZNF148	Homo sapiens	Q9UQR1	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	QRICH1	Homo sapiens	Q2TAL8	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	QRICH1	Homo sapiens	Q2TAL8	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	QRICH1	Homo sapiens	Q2TAL8	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	TRIM7	Homo sapiens	Q9C029	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	GDPD5	Homo sapiens	Q8WTR4	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	GDPD5	Homo sapiens	Q8WTR4	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ZFYVE21	Homo sapiens	Q9BQ24	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ZFYVE21	Homo sapiens	Q9BQ24	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	PEG10	Homo sapiens	Q86TG7	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	PEG10	Homo sapiens	Q86TG7	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	H4C16	Homo sapiens	P62805	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	H4C16	Homo sapiens	P62805	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	H4C16	Homo sapiens	P62805	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	UXT	Homo sapiens	Q9UBK9	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	EEF1D	Homo sapiens	P29692	Y2H	21988832
Intra	SIAH1	Q8IUQ4	EEF1D	Homo sapiens	P29692	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	EEF1D	Homo sapiens	P29692	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	EEF1D	Homo sapiens	P29692	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	SPATC1L	Homo sapiens	Q9H0A9	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	MTIF3	Homo sapiens	Q9H2K0	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	MTIF3	Homo sapiens	Q9H2K0	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	LACTB2	Homo sapiens	Q53H82	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	AFF4	Homo sapiens	Q9UHB7	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	AFF4	Homo sapiens	Q9UHB7	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	CDC23	Homo sapiens	Q9UJX2	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	CDC23	Homo sapiens	Q9UJX2	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	CAPG	Homo sapiens	P40121	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	CAPG	Homo sapiens	P40121	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	CAPG	Homo sapiens	P40121	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	SEPTIN4	Homo sapiens	O43236-6	Anti Tag CoIP	21185211
Intra	SIAH1	Q8IUQ4	MYD88	Homo sapiens	Q99836	Y2H	21988832
Intra	SIAH1	Q8IUQ4	RPS19BP1	Homo sapiens	Q86WX3	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	RPS19BP1	Homo sapiens	Q86WX3	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	UBE2K	Homo sapiens	P61086	Y2H	19549727
Intra	SIAH1	Q8IUQ4	UBE2K	Homo sapiens	P61086	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	PFKM	Homo sapiens	P08237	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	PFKM	Homo sapiens	P08237	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	XIAP	Homo sapiens	P98170	Anti Tag CoIP	21185211
Intra	SIAH1	Q8IUQ4	XIAP	Homo sapiens	P98170	Anti Bait CoIP	21185211
Intra	SIAH1	Q8IUQ4	KIAA0319L	Homo sapiens	Q8IZA0	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	MAPK12	Homo sapiens	P53778	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	MAPK12	Homo sapiens	P53778	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	SPATA4	Homo sapiens	Q8NEY3	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	SPATA4	Homo sapiens	Q8NEY3	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	SPATA4	Homo sapiens	Q8NEY3	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	ATXN7	Homo sapiens	O15265	Y2H	21078624
Intra	SIAH1	Q8IUQ4	ATXN7	Homo sapiens	O15265	Pull Down	21078624
Intra	SIAH1	Q8IUQ4	NECTIN2	Homo sapiens	Q92692	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	NECTIN2	Homo sapiens	Q92692	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	PTPMT1	Homo sapiens	Q8WUK0	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	PTPMT1	Homo sapiens	Q8WUK0	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	PTPMT1	Homo sapiens	Q8WUK0	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	SDCBP	Homo sapiens	O00560	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	AASDHPPT	Homo sapiens	Q9NRN7	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	FZD9	Homo sapiens	Q8TAN2	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	FZD9	Homo sapiens	Q8TAN2	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	KATNAL1	Homo sapiens	Q9BW62	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	RAB33A	Homo sapiens	Q14088	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	AQP1	Homo sapiens	P29972	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	AQP1	Homo sapiens	P29972	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	AQP1	Homo sapiens	P29972	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	IQCN	Homo sapiens	Q9H0B3	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	OTUB2	Homo sapiens	Q96DC9	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	CACYBP	Homo sapiens	Q9HB71	Pull Down	11389839
Intra	SIAH1	Q8IUQ4	SIAH1	Homo sapiens	Q8IUQ4	Y2H	21988832
Intra	SIAH1	Q8IUQ4	SIAH1	Homo sapiens	Q8IUQ4	Y2H Array	22493164
Intra	SIAH1	Q8IUQ4	SIAH1	Homo sapiens	Q8IUQ4	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	EXOC3-AS1	Homo sapiens	Q8N2X6	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	EXOC3-AS1	Homo sapiens	Q8N2X6	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	BCL6	Homo sapiens	P41182	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	BCL6	Homo sapiens	P41182	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	BCL6	Homo sapiens	P41182	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	KCNJ10	Homo sapiens	P78508	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	KCNJ10	Homo sapiens	P78508	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	MX1	Homo sapiens	P20591	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	MX1	Homo sapiens	P20591	Y2H Array	25416956
Cross	SIAH1	Q8IUQ4	Pou2af1	Mus musculus	Q64693	Pull Down	11483518
Cross	SIAH1	Q8IUQ4	Pou2af1	Mus musculus	Q64693	Y2H	11483518
Intra	SIAH1	Q8IUQ4	MAPKBP1	Homo sapiens	O60336	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	MAPKBP1	Homo sapiens	O60336	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	MAPKBP1	Homo sapiens	O60336	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	RAD54L2	Homo sapiens	Q9Y4B4	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	RAD54L2	Homo sapiens	Q9Y4B4	Y2H Array	25416956
Intra	SIAH1	Q8IUQ4	ZCCHC13	Homo sapiens	Q8WW36	Y2H Prey Pooling	25416956
Cross	SIAH1	Q8IUQ4	Sh3rf1	Mus musculus	Q69ZI1	Anti Tag CoIP	16230351
Intra	SIAH1	Q8IUQ4	MOB3C	Homo sapiens	Q70IA8	Y2H Prey Pooling	25416956
Intra	SIAH1	Q8IUQ4	MOB3C	Homo sapiens	Q70IA8	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	CDC34	Homo sapiens	P49427	Validated Y2H	25416956
Intra	SIAH1	Q8IUQ4	CDC34	Homo sapiens	P49427	Y2H Array	25416956
Cross	SIAH1	Q8IUQ4	X	Hepatitis B virus	P69713	Anti Tag CoIP	21878328
Cross	SIAH1	Q8IUQ4	X	Hepatitis B virus	P69713	Pull Down	21878328

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Buratti-Harel Syndrome

BURHAS

Hypotonia

Machado-Joseph Disease

SCA3	MJD
Spinocerebellar Ataxia 3	Azorean Disease
Spinocerebellar Ataxia Type 3	Spinocerebellar Atrophy
Azorean Neurologic Disease	Spinopontine Atrophy
Nigrospinodentatal Degeneration	Spinocerebellar Atrophy Iii
Spinocerebellar Atrophy Type 3	Azorean Ataxia
Azorean Disease Of The Nervous System	Machado Disease
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia	Disease, Machado-Joseph
Ataxia, Spinocerebellar

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-108705	BI-3802	Inhibitor	99.27%	否
HY-RS12891	SIAH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	SIAH1	VGNC	VGNC:46163
Bos taurus	SIAH1	VGNC	VGNC:57055
Mus musculus	SIAH1	MGD	MGI:108064
Macaca mulatta	SIAH1	VGNC	VGNC:77214
Rattus norvegicus	SIAH1	RGD	RGD:620449

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