CUL4B - cullin 4B Gene

Homo sapiens

Also known as SFM2; MRXSC; CUL-4B; MRXHF2; MRXS15

Gene ID: 8450 | Gene type: protein coding

About CUL4B

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:120,523,858-120,575,532 (from NCBI)

This gene has 40 transcripts (splice variants), 225 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 18.5), ovary (RPKM 14.3) and 25 other tissues.

Summary

This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin Ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CUL4B Products(4)

mRNA	Protein	Name
NM_001079872.2	NP_001073341.1	cullin-4B isoform 2
NM_001330624.2	NP_001317553.1	cullin-4B isoform 3
NM_001369145.1	NP_001356074.1	cullin-4B isoform 4
NM_003588.4	NP_003579.3	cullin-4B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to damaged DNA binding	IDA IDA: Inferred from direct assay	22334663	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12609982	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in UV-damage excision repair	IDA IDA: Inferred from direct assay	22334663	GOA
acts upstream of or within proteasomal protein catabolic process	IDA IDA: Inferred from direct assay	25970626	GOA
acts upstream of or within proteasomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	25970626	GOA
involved in protein ubiquitination	IMP IMP: Inferred from mutant phenotype	28437394	GOA
involved in ribosome biogenesis	IMP IMP: Inferred from mutant phenotype	26711351	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cul4-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	16949367	GOA
part of Cul4A-RING E3 ubiquitin ligase complex	EXP EXP: Inferred from Experiment	22118460	GOA
part of Cul4B-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	18794347	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

CUL4B Protein Structure

Cullin

Cullin_Nedd8

0
200
400
600
800
913 a.a.

Protein Preferred Names

Protein Names

cullin-4B

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type

Cabezas Syndrome	Mental Retardation, X-Linked, Syndromic 15
MRXSC	Mrxs15
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait	Mental Retardation, X-Linked, With Short Stature
Mrss	Cul4b-Related X-Linked Intellectual Disability
X-Linked Intellectual Disability, Cabezas Type	X-Linked Intellectual Disability Cabezas Type
Mental Retardation, X-Linked, Syndromic, Cabezas Type	Intellectual Developmental Disorder, X-Linked Syndromic, Cabezas Type
Cabezas Type Of X-Linked Syndromic Intellectual Disability	Intellectual Disability, X-Linked, Syndromic 15
Intellectual Deficit, X-Linked, Cabezas Type	Mrxhf2

Pettigrew Syndrome

PGS	Mrxs5
Mrx59	Mrxs21
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Mental Retardation, X-Linked, Syndromic 5
Mrxsf	Syndromic X-Linked Intellectual Disability 5
Fried Syndrome	Mental Retardation, X-Linked Syndromic 5
Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures	Mental Retardation, X-Linked, Syndromic, Fried Type
Mental Retardation, X-Linked, Syndromic 21	Syndromic X-Linked Mental Retardation 21
Syndromic X-Linked Mental Retardation Fried Type	X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An	Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures
X-Linked Syndromic Intellectual Disability 5	X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures
X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures	X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Mental Retardation, X-Linked Syndromic, Fried Type	Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures
Mental Retardation, X-Linked 59

Danon Disease

Pseudoglycogenosis Ii	Antopol Disease
Glycogen Storage Disease Iib	Glycogen Storage Disease Type 2b
Glycogen Storage Disease Type Iib	Gsd2b
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency	Vacuolar Cardiomyopathy And Myopathy X-Linked
Vacuolar Cardiomyopathy And Myopathy, X-Linked	Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
Gsd2b, Formerly	Gsd Iib, Formerly
Glycogen Storage Cardiomyopathy	Glycogen Storage Disease Limited To The Heart
Pseudoglycogenosis 2	X-Linked Vacuolar Cardiomyopathy And Myopathy
Lysosomal Glycogen Storage Disease With Normal Acid Maltase	Glycogen Storage Disease Due To Lamp-2 Deficiency
Gsd Due To Lamp-2 Deficiency	Glycogenosis Due To Lamp-2 Deficiency
Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity	DAND
Gsd-Iib

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Syndromic X-Linked Intellectual Disability Cabezas Type

Cabezas Syndrome	Syndromic X-Linked Mental Retardation 15
Mental Retardation, X-Linked, Syndromic 15	Mrss
Mrxs15	Mrxsc
X-Linked Mental Retardation With Short Stature	X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait
Mental Retardation, X-Linked, With Short Stature	Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Cockayne Syndrome

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

Xeroderma Pigmentosum Group E

Xeroderma Pigmentosum, Group E	Xeroderma Pigmentosum V
Xp Group E	Xp5
Xpe	Xeroderma Pigmentosum, Complementation Group E

Scheuermann Disease

Scheuermann'S Disease	Spinal Osteochondrosis
Juvenile Osteochondrosis Of Spine	Familial Scheuermann Disease
Familial Scheuermann Juvenile Kyphosis	Familial Spinal Osteochondrosis
Scheuermann Juvenile Kyphosis	Juvenile Osteochondritis Of The Spine
Juvenile Osteochondrosis Of Scheurermann	Scheuermann'S Kyphosis
Sherman'S Disease	Juvenile Kyphosis
Scheuermann Kyphosis	[X]Spinal Osteochondrosis, Unspecified

Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome	COFS1
Pena-Shokeir Syndrome Type 2	Cofs
Pena-Shokeir Syndrome, Type Ii	Cerebrooculofacioskeletal Syndrome
Cerebro-Oculo-Facio-Skeletal Syndrome 1	Pena Shokeir Syndrome Type 2

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

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Syndromic Intellectual Disability

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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03363	CUL4B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CUL4B	VGNC	VGNC:27833
Mus musculus	CUL4B	MGD	MGI:1919834
Canis familiaris	CUL4B	VGNC	VGNC:39732
Macaca mulatta	CUL4B	VGNC	VGNC:71569
Felis catus	CUL4B	VGNC	VGNC:61285
Rattus norvegicus	CUL4B	RGD	RGD:1564494

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