RBX1 - ring-box 1 Gene

Homo sapiens

Also known as ROC1; RNF75; BA554C12.1

Gene ID: 9978 | Gene type: protein coding

About RBX1

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:40,951,378-40,973,309 (from NCBI)

This gene has 3 transcripts (splice variants), 223 orthologues and 2 paralogues. Ubiquitous expression in placenta (RPKM 27.7), bone marrow (RPKM 27.1) and 25 other tissues.

Summary

This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]

RBX1 Products(1)

mRNA	Protein	Name
NM_014248.4	NP_055063.1	E3 ubiquitin-protein ligase RBX1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables NEDD8 ligase activity	IDA IDA: Inferred from direct assay	19250909	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	14739464	GOA
enables cullin family protein binding	IDA IDA: Inferred from direct assay	10230407	GOA
enables cullin family protein binding	IPI IPI: Inferred from physical interaction	14528312	GOA
enables molecular adaptor activity	EXP EXP: Inferred from Experiment	11961546	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11961546	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	10230407	GOA
enables ubiquitin protein ligase binding	IDA IDA: Inferred from direct assay	17636018	GOA
contributes to ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	15983046	GOA
enables ubiquitin-ubiquitin ligase activity	IDA IDA: Inferred from direct assay	10230407	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	EXP EXP: Inferred from Experiment	22118460	GOA
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	15103331	GOA
involved in T cell activation	IDA IDA: Inferred from direct assay	34065512	GOA
involved in cellular response to UV	EXP EXP: Inferred from Experiment	22118460	GOA
involved in cellular response to amino acid stimulus	IDA IDA: Inferred from direct assay	29769719	GOA
involved in negative regulation of response to oxidative stress	IDA IDA: Inferred from direct assay	11027288	GOA
involved in negative regulation of type I interferon production	IDA IDA: Inferred from direct assay	36394357	GOA
involved in positive regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	29769719	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	10644755	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IPI IPI: Inferred from physical interaction	14739464	GOA
involved in positive regulation of protein autoubiquitination	IMP IMP: Inferred from mutant phenotype	14528312	GOA
involved in positive regulation of protein catabolic process	IDA IDA: Inferred from direct assay	11027288	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	10230407	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	15103331	GOA
involved in protein monoubiquitination	IDA IDA: Inferred from direct assay	22358839	GOA
involved in protein neddylation	IDA IDA: Inferred from direct assay	19250909	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	14528312	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	15103331	GOA
involved in protein ubiquitination	IPI IPI: Inferred from physical interaction	14739464	GOA
involved in spermatogenesis	IDA IDA: Inferred from direct assay	34065512	GOA
involved in ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	17636018	GOA
involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IDA IDA: Inferred from direct assay	29779948	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cul2-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	17636018	GOA
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	14528312	GOA
part of Cul4A-RING E3 ubiquitin ligase complex	EXP EXP: Inferred from Experiment	22118460	GOA
part of Cul4A-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	12732143	GOA
part of Cul4B-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	18794347	GOA
part of Cul5-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	17636018	GOA
part of Cul7-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	18498745	GOA
part of SCF ubiquitin ligase complex	IDA IDA: Inferred from direct assay	11956208	GOA
part of cullin-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	22405651	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	34065512	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	11027288	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

RBX1 Protein Structure

zf-rbx1

0
100
108 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase RBX1

E3 ubiquitin-protein transferase RBX1

RBX1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RBX1	P62877	KRTAP12-2	Homo sapiens	P59991	Y2H Prey Pooling	32296183
Intra	RBX1	P62877	KRTAP12-2	Homo sapiens	P59991	Y2H Array	32296183
Intra	RBX1	P62877	PBX4	Homo sapiens	Q9BYU1	Validated Y2H	32296183
Intra	RBX1	P62877	PBX4	Homo sapiens	Q9BYU1	Y2H Prey Pooling	32296183
Intra	RBX1	P62877	PBX4	Homo sapiens	Q9BYU1	Y2H Array	32296183
Intra	RBX1	P62877	UBE2M	Homo sapiens	P61081	NMR	21765416
Intra	RBX1	P62877	UBE2M	Homo sapiens	P61081	Ubiquitinase Assay	24949976
Intra	RBX1	P62877	UBE2M	Homo sapiens	P61081	Y2H Prey Pooling	32296183
Intra	RBX1	P62877	UBE2M	Homo sapiens	P61081	Y2H Array	32296183
Intra	RBX1	P62877	UBE2M	Homo sapiens	P61081	Neddylase Assay	24949976
Intra	RBX1	P62877	CUL1	Homo sapiens	Q13616	Ubiquitinase Assay	24949976
Intra	RBX1	P62877	CUL1	Homo sapiens	Q13616	SAXS	18805092
Intra	RBX1	P62877	CUL1	Homo sapiens	Q13616	Neddylase Assay	24949976
Intra	RBX1	P62877	CUL1	Homo sapiens	Q13616	Anti Tag CoIP	33692209
Intra	RBX1	P62877	CUL1	Homo sapiens	Q13616	Anti Bait CoIP	12504026
Intra	RBX1	P62877	CUL1	Homo sapiens	Q13616	Anti Tag CoIP	33961781
Intra	RBX1	P62877	CUL4B	Homo sapiens	Q13620	Anti Tag CoIP	23238014
Intra	RBX1	P62877	CUL4B	Homo sapiens	Q13620	Anti Tag CoIP	33961781
Intra	RBX1	P62877	CUL2	Homo sapiens	Q13617	Anti Tag CoIP	33961781
Intra	RBX1	P62877	CUL2	Homo sapiens	Q13617	Validated Y2H	32296183
Intra	RBX1	P62877	CUL2	Homo sapiens	Q13617	Y2H Array	32296183
Intra	RBX1	P62877	CUL2	Homo sapiens	Q13617	Y2H Prey Pooling	32296183
Intra	RBX1	P62877	CUL2	Homo sapiens	Q13617	Pull Down	17183367
Intra	RBX1	P62877	SKP2	Homo sapiens	Q13309	Anti Tag CoIP	33961781
Intra	RBX1	P62877	SKP2	Homo sapiens	Q13309	Anti Tag CoIP	18239684
Intra	RBX1	P62877	GLMN	Homo sapiens	Q92990	Anti Tag CoIP	33961781
Intra	RBX1	P62877	GLMN	Homo sapiens	Q92990	Validated Y2H	32296183
Intra	RBX1	P62877	GLMN	Homo sapiens	Q92990	Y2H Array	32296183
Intra	RBX1	P62877	GLMN	Homo sapiens	Q92990	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

RBX1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81379	RBX1 Antibody (YA1124)	IHC-P	Human

Related Diseases

Diseases

Alias

Invasive Bladder Transitional Cell Carcinoma

Invasive Bladder Urothelial Carcinoma

Infiltrating Bladder Urothelial Carcinoma

Mulibrey Nanism

MUL	Muscle-Liver-Brain-Eye Nanism
Pericardial Constriction And Growth Failure	Perheentupa Syndrome
Mulibrey Growth Disorder	Mulibrey Nanism Syndrome
Pericardial Constriction With Growth Failure	Nanism Mulibrey

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Xeroderma Pigmentosum, Complementation Group E

Xeroderma Pigmentosum V	Xp5
Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype	Xpe
Xp, Group E	Xeroderma Pigmentosum, Type 5
Xeroderma Pigmentosum Complementation Group E	XP-E
Xp Group E

Three M Syndrome 1

3-M Syndrome	Yakut Short Stature Syndrome
3m Syndrome	Le Merrer Syndrome
Dolichospondylic Dysplasia	Gloomy Face Syndrome
Three M Syndrome	3M1
3m Syndrome 1	Miller-Mckusick-Malvaux Syndrome
3-Msbn	Three-M Slender-Boned Nanism
Miller-Mckusick-Malvaux-Syndrome	3-M Syndrome 1
3m Syndrome-1	3m Syndrome, Type 1
Dwarfism	Dwarfism Tall Vertebrae

Retinal Hemangioblastoma

Capillary Hemangioma Of Retina

Kidney Cancer

Renal Cancer	Renal Carcinoma
Kidney Neoplasm	Malignant Neoplasm Of Kidney Except Pelvis
Malignant Tumour Of Kidney	Kidney Neoplasms
Cancer, Kidney	Cancer, Renal
Malignant Neoplasm Of Kidney	Renal Cell Carcinoma

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma	RCC
Nonpapillary Renal Cell Carcinoma	Clear Cell Renal Cell Carcinoma
Hypernephroma	Adenocarcinoma Of Kidney
Renal Carcinoma, Chromophobe, Somatic	Clear Cell Carcinoma Of Kidney
Clear-Cell Metastatic Renal Cell Carcinoma	Clear Cell Renal Carcinoma
Renal Cell Carcinoma, Somatic	Conventional Renal Cell Carcinoma
Conventional Renal Cell Carcinoma	Renal Clear Cell Carcinoma
Ccrcc	Hereditary Clear Cell Renal Cell Carcinoma
Carcinoma, Renal Cell	Renal Cell Carcinoma, Clear Cell, Somatic
Renal Cell Carcinoma, Clear Cell	Clear Cell Kidney Carcinoma
Clear Cell Rcc	Cystic-Multilocular Variant
Clear Cell Renal Cell Adenocarcinoma	Hereditary Clear Cell Renal Cell Adenocarcinoma
Common Renal Cell Carcinoma	Crcc
Renal Cell Carcinoma Non-Papillary	Carcinoma Renal Cell
Renal Cell Cancer	Carcinoma, Renal Cell, Nonpapillary

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Uv-Sensitive Syndrome

Uvss	Uv Sensitive Syndrome
Ultraviolet Sensitive Syndrome

Erythrocytosis, Familial, 2

Chuvash Polycythemia	ECYT2
Familial Erythrocytosis 2	Autosomal Recessive Benign Erythrocytosis
Polycythemia, Vhl-Dependent	Chuvash Erythromatosis
Chuvash Type Polycythemia	Chuvash Erythrocytosis
Von Hippel-Lindau-Dependent Polycythemia	Polycythemia Chuvash Type
Vhl-Dependent Polycythemia	Erythrocytosis, Familial, Type 2

Cockayne Syndrome A

Cockayne Syndrome Type 1	Cockayne Syndrome, Type A
Cockayne Syndrome Type I	CSA
Cockayne Syndrome Classic Form	Cockayne Syndrome Classical
Cockayne Syndrome Type A	Ckn1

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease	Vhl
Vhl Syndrome	VHLS
Von Hippel-Lindau Syndrome, Modifier Of	Hippel Lindau Syndrome
Angiomatosis Retinae	Cerebelloretinal Angiomatosis, Familial
Hippel-Lindau Disease	Familial Cerebelloretinal Angiomatosis
Lindau Disease	VHLD

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

Related Agents

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14658	Thalidomide	Inducer	99.92%	Yes

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14658S	Thalidomide-d4	Inducer	98.00%	Unkown
HY-RS11776	RBX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RBX1	RGD	RGD:1308453
Canis familiaris	RBX1	VGNC	VGNC:108215
Felis catus	RBX1	VGNC	VGNC:69274
Mus musculus	RBX1	MGD	MGI:1891829
Macaca mulatta	RBX1	VGNC	VGNC:98435
Others	RBX1	NCBI

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