LZTR1 - leucine zipper like transcription regulator 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8216

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	References	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	References	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	References	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
800
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]

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

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 Set	/	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