1. Gene
  2. SIAH1 - siah E3 ubiquitin protein ligase 1 Gene

SIAH1 - siah E3 ubiquitin protein ligase 1 Gene

Homo sapiens

Also known as BURHAS; SIAH1A

Gene ID: 6477 | Gene type: protein coding

About 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.

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]

SIAH1 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
21988832 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11389840 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
23001567 GOA
enables ubiquitin protein ligase activity IMP
IMP: Inferred from mutant phenotype
28546513 GOA
enables ubiquitin-protein transferase activity IMP
IMP: Inferred from mutant phenotype
21185211 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
11863358 GOA
Biological Process GO Annotation Evidence Reference Source
involved in canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
28546513 GOA
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
21185211 GOA
involved in positive regulation of intrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
21185211 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
33591310 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
28546513 GOA
involved in protein catabolic process IDA
IDA: Inferred from direct assay
11389840 GOA
acts upstream of or within ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
23001567 GOA
Cellular Component GO Annotation Evidence Reference Source
part of beta-catenin destruction complex IDA
IDA: Inferred from direct assay
16085652 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIAH1 Protein Structure

Sina

Sina: Seven in absentia protein family (82 - 278)

  • 0
  • 100
  • 200
  • 282 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase SIAH1

RING-type E3 ubiquitin transferase SIAH1

SIAH1 Protein-protein interaction Information

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

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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