CUL3 - cullin 3 Gene

Homo sapiens

Also known as CUL-3; PHA2E; NEDAUS

Gene ID: 8452 | Gene type: protein coding

About CUL3

Cytogenetic location: 2q36.2 Genomic coordinates (GRCh38): 2:224,470,150-224,585,363 (from NCBI)

This gene has 15 transcripts (splice variants), 293 orthologues, 7 paralogues and is associated with 77 phenotypes. Broad expression in testis (RPKM 53.6), esophagus (RPKM 12.6) and 24 other tissues.

Summary

This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

CUL3 Products(3)

mRNA	Protein	Name
NM_001257197.2	NP_001244126.1	cullin-3 isoform 2
NM_001257198.2	NP_001244127.1	cullin-3 isoform 3
NM_003590.5	NP_003581.1	cullin-3 isoform 1

CUL3 Protein Structure

Cullin

Cullin_Nedd8

0
200
400
600
768 a.a.

Protein Preferred Names

Protein Names

cullin-3

Related Diseases

Diseases

Alias

Pseudohypoaldosteronism, Type Iie

Pseudohypoaldosteronism Type 2e	PHA2E
Familial Hyperkalemic Hypertension	Gordon'S Syndrome
Phaii	Pseudohypoaldosteronism Type 2
Gordon Hyperkalemia-Hypertension Syndrome	Pseudohypoaldosteronism Type Ii
Chloride Shunt Syndrome	Hyperpotassemia And Hypertension Familial
Pha2	Familial Hyperpotassemia And Hypertension
Familial Hypertensive Hyperkalemia	Fhht
Hyperkalemia-Hypertension Syndrome, Gordon Type	Hypertensive Hyperkalemia
Mineralocorticoid Resistant Hyperkalemia	Spitzer-Weinstein Syndrome
Pseudohypoaldosteronism 2e	Pseudohypoaldosteronism, Type Ii
Pseudohypoaldosteronism, Type Iid	Hyperpotassemia And Hypertension, Familial

Neurodevelopmental Disorder With Or Without Autism Or Seizures

NEDAUS	Neurodevelopmental Disorder With Autism Without Seizures
Neurodevelopmental Disorder Without Autism With Seizures	Neurodevelopmental Disorder Without Autism Or Seizures
Neurodevelopmental Disorder With/Without Autism Or Seizures

Pseudohypoaldosteronism, Type Iia

Pseudohypoaldosteronism Type 2a	PHA2A
Hyperpotassemia And Hypertension, Familial	Hypertensive Hyperkalemia, Familial
Gordon Hyperkalemia-Hypertension Syndrome	Pseudohypoaldosteronism, Type Ii

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Pseudohypoaldosteronism, Type I, Autosomal Dominant

Autosomal Dominant Pseudohypoaldosteronism Type 1	PHA1A
Pseudohypoaldosteronism Type I, Autosomal Dominant	Pseudohypoaldosteronism Type 1 Autosomal Dominant
Renal Pha1	Renal Pseudohypoaldosteronism Type 1
Pha I, Autosomal Dominant	Autosomal Dominant Pha 1
Pseudohypoaldosteronism Type 1, Dominant	Autosomal Dominant Pha1
Pseudohypoaldosteronism 1, Autosomal Dominant	Pha Type I, Autosomal Dominant

Pseudohypoaldosteronism

Nk-Cell Enteropathy

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Cold-Induced Sweating Syndrome 3

Metabolic Acidosis

Giant Axonal Neuropathy 2

Arthrogryposis, Distal, Type 3

Gordon Syndrome	DA3
Distal Arthrogryposis Type 3	Arthrogryposis Multiplex Congenita, Distal, Type Iia
Camptodactyly, Cleft Palate, And Clubfoot	Camptodactyly-Cleft Palate-Clubfoot Syndrome
Distal Arthrogryposis Multiplex Congenita Type Iia	Arthrogryposis Distal Type 3
Distal Arthrogryposis Type Iia	Arthrogryposis, Distal, 3
Pseudohypoaldosteronism, Type Ii

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Neurilemmomatosis

Schwannomatosis	Neurofibromatosis Type 3
Nf3	Neurilemmomatosis Congenital Cutaneous
Neurinomatosis	Congenital Cutaneous Neurilemmomatosis
Multiple Neurilemmomas	Multiple Schwannomas
Neurilemmomatosis, Congenital Cutaneous	Schwannomatosis 1
Neurofibromatosis 3	Mixed Central And Peripheral Neurofibromatosis
Nf3 - [Neurofibromatosis Type 3]

Penis Carcinoma In Situ

Carcinoma In Situ Of Penis	Bowen'S Disease Of Penis
Grade Iii Squamous Intraepithelial Lesion Of Penis	Penile Intraepithelial Neoplasia Grade Iii
Queyrat'S Erythroplasia	Erythroplasia Of Queyrat
Pin - [Penile Intraepithelial Neoplasia]

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Cold-Induced Sweating Syndrome

Crisponi Syndrome	Sohar-Crisponi Syndrome
Ciss	Cntf Receptor-Related Disorders
Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death	Sweating Syndrome, Cold-Induced

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

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

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

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-126075A	WS-383	Inhibitor	99.88%	Unkown
HY-126075	WS-383 free base	Inhibitor	/	Unkown
HY-RS03361	CUL3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CUL3	VGNC	VGNC:61284
Macaca mulatta	CUL3	VGNC	VGNC:71567
Canis familiaris	CUL3	VGNC	VGNC:39730
Mus musculus	CUL3	MGD	MGI:1347360
Bos taurus	CUL3	VGNC	VGNC:27831
Rattus norvegicus	CUL3	RGD	RGD:1308190

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