LZTR1 - leucine zipper like transcription regulator 1 Gene

Homo sapiens

Also known as NS2; NS10; BTBD29; LZTR-1; SWNTS2

Gene ID: 8216 | Gene type: protein coding

About LZTR1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,982,297-20,999,032 (from NCBI)

This gene has 23 transcripts (splice variants), 201 orthologues, 10 paralogues and is associated with 93 phenotypes. Ubiquitous expression in spleen (RPKM 12.6), ovary (RPKM 12.5) and 25 other tissues.

Summary

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]

LZTR1 Products(1)

mRNA	Protein	Name
NM_006767.4	NP_006758.2	leucine-zipper-like transcriptional regulator 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19060904	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	30442762	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of Ras protein signal transduction	IDA IDA: Inferred from direct assay	30442762	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	30442762	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	30442762	GOA
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16356934	GOA
located in endomembrane system	IDA IDA: Inferred from direct assay	30442762	GOA
located in recycling endosome membrane	IDA IDA: Inferred from direct assay	30442762	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

LZTR1 Protein Structure

Kelch_3

Kelch_1

Kelch_5

BTB

0
200
400
600
840 a.a.

Protein Preferred Names

Protein Names

leucine-zipper-like transcriptional regulator 1

epididymis secretory sperm binding protein

Related Diseases

Diseases

Alias

Schwannomatosis 2

SWNTS2	Schwannomatosis-2, Susceptibility To
Schwannomatosis-2

Noonan Syndrome 10

NS10	Noonan Syndrome, Type 10

Noonan Syndrome 2

NS2	Noonan Syndrome, Autosomal Recessive
Noonan Syndrome 2, Autosomal Recessive	Noonan Syndrome, Type 2

Nuchal Bleb, Familial

Fetal Cystic Hygroma	Cystic Hygroma, Fetal
Fch	Lymphangioma, Cystic

Noonan Syndrome And Noonan-Related Syndrome

Giant Cell Glioblastoma

Monstrocellular Sarcoma

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Glioma Susceptibility 1

Astrocytoma	GLM1
Glioma, Susceptibility To, Somatic	Glioblastoma, Somatic
Glioma	Glioblastoma Multiforme
Oligodendroglioma	Glioma Somatic
Astrocytic Tumor	GLM
Familial Glioma Of Brain	Gbm
Glioma 1	Glioma, Susceptibility, Type 1
Cerebral Astrocytoma	Glioblastoma
Well Differentiated Oligodendroglioma

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]

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

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome	DGS
Hypoplasia Of Thymus And Parathyroids	Third And Fourth Pharyngeal Pouch Syndrome
22q11.2 Deletion Syndrome	Digeorge Sequence
Digeorge'S Syndrome	Pharyngeal Pouch Syndrome
Di-George Syndrome	Shprintzen Syndrome

Pseudo-Turner Syndrome

Noonan Syndrome

Bladder Exstrophy

Exstrophy Of The Bladder

Classic Exstrophy Of The Bladder

Peripheral Nerve Schwannoma

Optic Nerve Sheath Meningioma

Meningioma Of Optic Nerve Sheath

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Noonan Syndrome-Like Disorder With Loose Anagen Hair

Noonan-Like Syndrome With Loose Anagen Hair	Mazzanti Syndrome
Ns/Lah

Optic Nerve Neoplasm

Optic Nerve Neoplasms	Neoplasm Of Optic Nerve
Tumor Of Second Cranial Nerve	Tumour Of Optic Nerve

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Spinal Meningioma

Spinal Cord Meningioma	Meningioma, Spine
Meningioma	Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma

Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis

MFHIEN

Pulmonary Valve Disease

Pulmonary Valve Disorder

Pulmonary Valve Stenosis

Valvular Pulmonary Stenosis	Heart Valve Pulmonary Stenosis
Valvar Pulmonary Stenosis	Valvate Pulmonary Stenosis
Pulmonary Stenosis	Pulmonary Valve Stricture
Pulmonic Valve Stenosis	Ps - [Pulmonary Valve Stenosis]
Pvs - [Pulmonary Valve Stenosis]	Pulmonary Valvular Stricture
Pulmonary Valvular Stenosis	Pulmonary Valvular Obstruction
Pulmonary Valve Obstruction	Obstructed Pulmonary Valve

Spinal Cancer

Spinal Cord Neoplasm	Spinal Cord Neoplasms
Spinal Neoplasms	Intraspinal Tumor
Malignant Tumor Of The Spinal Cord	Spinal Cord Cancer
Spinal Neoplasm	Tumor Of The Spinal Cord
Tumors Spinal Cord	Intraspinal Neoplasm
Spinal Cord--Cancer

Acoustic Neuroma

Neurofibromatosis Type 2	Vestibular Schwannoma
Acoustic Neurinoma	Bilateral Acoustic Neurofibromatosis
Nf2	Acoustic Neurilemoma
Cerebellopontine Angle Tumor	Neurofibromatosis Central Type
Neurofibromatosis Type Ii	Vestibular Neurilemmoma
Acoustic Tumor	Neurinoma Of The Acoustic Nerve
Acoustic Neurinoma Bilateral	Acoustic Schwannomas Bilateral
Banf	Central Neurofibromatosis
Familial Acoustic Neuromas	Neurofibromatosis 2
Neurofibromatosis Type 2 Merlin	Schwannoma, Acoustic, Bilateral
Neuroma Acoustic	Neuroma, Acoustic
Familial Acoustic Neuroma	Familial Vestibular Schwannoma
Neurofibromatosis, Central Type	Nf2 - [Neurofibromatosis Type 2]

Plexiform Schwannoma

Plexiform Neurilemmoma

Plexiform Neurinoma

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome	22q11.2 Microduplication Syndrome
22q11.2 Duplication Syndrome	Duplication 22q11.2
Trisomy 22q11.2	22q11.2 Duplication
Dup(22)(Q11)

Noonan Syndrome With Multiple Lentigines

Leopard Syndrome	Multiple Lentigines Syndrome
Moynahan Syndrome	Cardiomyopathic Lentiginosis
Progressive Cardiomyopathic Lentiginosis	Cardio-Cutaneous Syndrome
Lentiginosis Profusa	Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome
Generalized Lentiginosis	Gorlin Syndrome Ii
Lentiginosis Profusa Syndrome	Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes
Diffuse Lentiginosis	Nsml
Familial Multiple Lentigines Syndrome	Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type
Progressive Cardiomyopathic Lentiginosis Syndrome	Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Neurilemmoma

Schwannoma	Benign Schwannoma
Neurilemoma	Peripheral Fibroblastoma
Psammomatous Schwannoma	Neurolemmoma
Schwannomas

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Plexiform Neurofibroma

Neurofibroma Plexiform

Neurofibroma, Plexiform

Neurofibromatosis-Noonan Syndrome

NFNS	Neurofibromatosis Type 1
Neurofibromatosis With Noonan Phenotype	Nf1
Von Recklinghausen Disease	Neurofibromatosis Type 1-Noonan Syndrome
Noonan Neurofibromatosis Syndrome	Recklinghausen'S Disease
Noonan-Neurofibromatosis Syndrome	Fibromatosis Multiple Non Ossifying
Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots	Jaffe Campanacci Syndrome
Type 1 Neurofibromatosis	Neurofibromatosis 1
Peripheral Neurofibromatosis	Recklinghausen Disease, Nerve
Jaffe-Campanacci Syndrome

Van Den Ende-Gupta Syndrome

VDEGS	Blepharophimosis, Arachnodactyly, And Congenital Contractures
Marden-Walker-Like Syndrome	Marden-Walker-Like Syndrome Without Psychomotor Retardation
Marden Walker Like Syndrome	Marden-Walker-Like Syndrome Without Psychmotor Retardation
Van Den Ende Gupta Syndrome	Marden Walker Like Syndrome Without Psychomotor Retardation
Blepharophimosis Arachnodactyly And Congenital Contractures

Costello Syndrome

Faciocutaneoskeletal Syndrome	Fcs Syndrome
Congenital Myopathy With Excess Of Muscle Spindles	CSTLO
CMEMS	Fcss
Myopathy, Congenital, With Excess Of Muscle Spindles

Intracranial Meningioma

Meningioma

Atypical Neurofibroma

Neuroma

Neurofibromatosis, Type Ii

Neurofibromatosis 2	Neurofibromatosis, Type 2
NF2	Neurofibromatosis Type Ii
Bilateral Acoustic Neurofibromatosis	Banf
Acn	Central Neurofibromatosis
Neurofibromatosis, Central Type	Acoustic Schwannomas, Bilateral
Acoustic Neurinoma, Bilateral	Bilateral Acoustic Neurinoma
Bilateral Acoustic Schwannomas	Familial Acoustic Neuromas

Cystic Lymphangioma

Cystic Hygroma	Cavernous Lymphangioma
Macrocystic Lymphatic Malformation	Cavernous Lymphatic Malformation
Macrocystic Lymphangioma	Lymphangioma, Cystic

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Exstrophy-Epispadias Complex	Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex
Beec	Eec
Exstrophy Of The Bladder	Bladder Exstrophy
Bladder Exstrophy And Epispadias Complex

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Atrial Heart Septal Defect

Atrial Septal Defect	Atrial Septal Defects
Atrioseptal Defect	Auricular Septal Defect
Congenital Atrial Septal Defect	Interatrial Septal Defect
Interauricular Septal Defect	Heart Septal Defects, Atrial
Septal Defect, Atrial

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07933	LZTR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W556631	LZTR1-KRAS modulator 1	Activator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	LZTR1	VGNC	VGNC:42904
Macaca mulatta	LZTR1	VGNC	VGNC:74468
Rattus norvegicus	LZTR1	RGD	RGD:1309100
Bos taurus	LZTR1	VGNC	VGNC:31120
Mus musculus	LZTR1	MGD	MGI:1914113
Felis catus	LZTR1	VGNC	VGNC:68116