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 DiG... See more...

Aliases for LZTR1 Gene

Aliases for LZTR1 Gene

  • Leucine Zipper Like Transcription Regulator 1 2 3 5
  • Leucine-Zipper-Like Transcriptional Regulator 1 2 3 4
  • LZTR-1 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • BTBD29 3
  • SWNTS2 3
  • TCFL2 4
  • NS10 3
  • NS2 3

External Ids for LZTR1 Gene

Previous GeneCards Identifiers for LZTR1 Gene

  • GC22P018035
  • GC22P019660
  • GC22P019661
  • GC22P021339
  • GC22P004604
  • GC22P021450

Summaries for LZTR1 Gene

Entrez Gene Summary for LZTR1 Gene

  • 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]

CIViC Summary for LZTR1 Gene

GeneCards Summary for LZTR1 Gene

LZTR1 (Leucine Zipper Like Transcription Regulator 1) is a Protein Coding gene. Diseases associated with LZTR1 include Schwannomatosis 2 and Noonan Syndrome 10. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is HCFC1.

UniProtKB/Swiss-Prot Summary for LZTR1 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304).

Gene Wiki entry for LZTR1 Gene

Additional gene information for LZTR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LZTR1 Gene

Genomics for LZTR1 Gene

GeneHancer (GH) Regulatory Elements for LZTR1 Gene

Promoters and enhancers for LZTR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J020978 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 804.1 -0.7 -705 5.3 ZNF785 ZBTB40 CTCF SIX5 MLX SMARCE1 RBPJ POLR2A CTBP1 NR2F1 LZTR1 ENSG00000272829 THAP7-AS1 TRMT2A THAP7 CCDC116 RANBP1 DGCR8 ENSG00000273342 PI4KAP2
GH22J020494 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 196.2 -486.6 -486568 3.4 ZNF785 ZBTB40 CTCF LCORL SMARCE1 POLR2A MCM5 TRIM22 ZNF362 ZNF133 MED15 KLHL22 LOC101928824 lnc-MED15-1 LZTR1 DGCR8 TRMT2A ENSG00000235776 ENSG00000215493 THAP7-AS1
GH22J020114 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 75.7 -865.1 -865103 4.7 E2F8 ZNF785 ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 FOXA1 MLX TRMT2A RANBP1 lnc-CCDC188-3-001 lnc-CCDC188-3-002 LZTR1 DGCR8 MED15 LINC01311 THAP7-AS1 ENSG00000235776
GH22J020078 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 59 -900.7 -900748 5.2 SIN3A ZBTB40 SP1 SIX5 MLX RBPJ SMARCE1 POLR2A FOS MIXL1 DGCR8 lnc-TRMT2A-3 TRMT2A LZTR1 MED15 ENSG00000235776 RPL8P5 UFD1 RANBP1 ENSG00000273300
GH22J020506 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 58.4 -472.8 -472767 5.8 ZNF785 SIX5 RBPJ POLR2A NR2F6 CREB1 HCFC1 MIXL1 ETV6 RBM39 MED15 piR-41245-161 piR-38716-094 piR-58557-056 LZTR1 DGCR8 TRMT2A ENSG00000235776 ENSG00000215493 RPL8P5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LZTR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LZTR1 gene promoter:
  • E47
  • Pax-4a
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • Tal-1

Genomic Locations for LZTR1 Gene

Genomic Locations for LZTR1 Gene
chr22:20,982,269-20,999,037
(GRCh38/hg38)
Size:
16,769 bases
Orientation:
Plus strand
chr22:21,333,751-21,353,327
(GRCh37/hg19)
Size:
19,577 bases
Orientation:
Plus strand

Genomic View for LZTR1 Gene

Genes around LZTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LZTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LZTR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LZTR1 Gene

Proteins for LZTR1 Gene

  • Protein details for LZTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N653-LZTR1_HUMAN
    Recommended name:
    Leucine-zipper-like transcriptional regulator 1
    Protein Accession:
    Q8N653
    Secondary Accessions:
    • Q14776
    • Q20WK0

    Protein attributes for LZTR1 Gene

    Size:
    840 amino acids
    Molecular mass:
    94719 Da
    Quaternary structure:
    • Homodimer (PubMed:30442762). Component of the BCR(LZTR1) E3 ubiquitin ligase complex, at least composed of CUL3, LZTR1 and RBX1 (PubMed:30442762, PubMed:30442766). Interacts with Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762). Interacts with RAF1 (PubMed:30368668). Interacts with SHOC2 (PubMed:30368668). Interacts with PPP1CB (PubMed:30368668).
    SequenceCaution:
    • Sequence=BAA07508.1; Type=Frameshift; Positions=16, 69, 222; Evidence={ECO:0000305};

neXtProt entry for LZTR1 Gene

Post-translational modifications for LZTR1 Gene

  • Phosphorylated on tyrosine upon induction of apoptosis, leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LZTR1 Gene

Domains & Families for LZTR1 Gene

Gene Families for LZTR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LZTR1 Gene

Suggested Antigen Peptide Sequences for LZTR1 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-zipper-like transcriptional regulator 1 (LZTR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N653

UniProtKB/Swiss-Prot:

LZTR1_HUMAN :
  • Belongs to the LZTR1 family.
Family:
  • Belongs to the LZTR1 family.
genes like me logo Genes that share domains with LZTR1: view

Function for LZTR1 Gene

Molecular function for LZTR1 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304).
GENATLAS Biochemistry:
leucine zipper-like transcriptional regulator 1,deleted in DiGeorge syndrome

Phenotypes From GWAS Catalog for LZTR1 Gene

Gene Ontology (GO) - Molecular Function for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA-binding transcription factor activity TAS 7633402
GO:0005515 protein binding IEA --
GO:0017016 Ras GTPase binding IDA 30442762
genes like me logo Genes that share ontologies with LZTR1: view
genes like me logo Genes that share phenotypes with LZTR1: view

Human Phenotype Ontology for LZTR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LZTR1 Gene

MGI Knock Outs for LZTR1:
  • Lztr1 Lztr1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LZTR1 Gene

Localization for LZTR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LZTR1 Gene

Endomembrane system. Recycling endosome. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LZTR1 gene
Compartment Confidence
endosome 5
golgi apparatus 5
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA,IBA 16356934
GO:0012505 endomembrane system IDA,IEA 30442762
GO:0016020 membrane IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 30442762
genes like me logo Genes that share ontologies with LZTR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LZTR1 Gene

Pathways & Interactions for LZTR1 Gene

PathCards logo

SuperPathways for LZTR1 Gene

No Data Available

UniProtKB/Swiss-Prot Q8N653-LZTR1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for LZTR1 Gene

SIGNOR curated interactions for LZTR1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS 7633402
GO:0016567 protein ubiquitination IEA --
GO:0046580 negative regulation of Ras protein signal transduction IDA 30442762
genes like me logo Genes that share ontologies with LZTR1: view

No data available for Pathways by source for LZTR1 Gene

Drugs & Compounds for LZTR1 Gene

No Compound Related Data Available

Transcripts for LZTR1 Gene

mRNA/cDNA for LZTR1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LZTR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ·
SP1: - - - -
SP2: - -
SP3:
SP4: -
SP5: - - -
SP6: - -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

ExUns: 17d · 17e ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c
SP1: - - -
SP2:
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11:
SP12:
SP13:
SP14: - - - - -
SP15:

Relevant External Links for LZTR1 Gene

GeneLoc Exon Structure for
LZTR1
ECgene alternative splicing isoforms for
LZTR1

Expression for LZTR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LZTR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LZTR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (56.1) and CD8 Tcells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LZTR1 Gene



Protein tissue co-expression partners for LZTR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LZTR1 Gene:

LZTR1

SOURCE GeneReport for Unigene cluster for LZTR1 Gene:

Hs.78788

Evidence on tissue expression from TISSUES for LZTR1 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LZTR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LZTR1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LZTR1 Gene

Orthologs for LZTR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LZTR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LZTR1 33 32
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LZTR1 33 32
  • 91.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LZTR1 33 32
  • 90.08 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lztr1 32
  • 87.95 (n)
mouse
(Mus musculus)
Mammalia Lztr1 17 33 32
  • 87.76 (n)
oppossum
(Monodelphis domestica)
Mammalia LZTR1 33
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 78 (a)
OneToMany
-- 33
  • 75 (a)
OneToMany
-- 33
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves LZTR1 32
  • 80.04 (n)
-- 33
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia LZTR1 33
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lztr1 32
  • 75.39 (n)
zebrafish
(Danio rerio)
Actinopterygii lztr1 33 32
  • 76.91 (n)
OneToOne
Dr.19626 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5275 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004292 32
  • 61.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3711 33 32
  • 60.46 (n)
OneToOne
EG:BACR7A4.19 34
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 33
  • 14 (a)
ManyToMany
KEL1 33
  • 11 (a)
ManyToMany
Species where no ortholog for LZTR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LZTR1 Gene

ENSEMBL:
Gene Tree for LZTR1 (if available)
TreeFam:
Gene Tree for LZTR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LZTR1: view image

Paralogs for LZTR1 Gene

(1) SIMAP similar genes for LZTR1 Gene using alignment to 8 proteins:

  • LZTR1_HUMAN
  • B7Z3T9_HUMAN
  • F8WB67_HUMAN
  • F8WCB6_HUMAN
  • F8WEQ8_HUMAN
  • H7BZQ9_HUMAN
  • H7C0X1_HUMAN
  • H7C305_HUMAN
genes like me logo Genes that share paralogs with LZTR1: view

Variants for LZTR1 Gene

Sequence variations from dbSNP and Humsavar for LZTR1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1034395178 pathogenic, Autosomal recessive Noonan-like syndrome due to compound heterozygous variants in LZTR1 20,996,071(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs1135401945 uncertain-significance, Noonan syndrome 10, Rasopathy 20,985,848(+) A/G coding_sequence_variant, missense_variant
rs1223430276 uncertain-significance, likely-pathogenic, not provided, Noonan syndrome 10, Noonan syndrome 10 (NS10) [MIM:616564] 20,991,684(+) G/A coding_sequence_variant, missense_variant
rs1249726034 pathogenic, Noonan syndrome 2 20,996,679(+) C/A/G intron_variant
rs1275511136 Noonan syndrome 2 (NS2) [MIM:605275] 20,997,287(+) T/C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for LZTR1 Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv2678175 CNV deletion 23128226
esv2763693 CNV gain 21179565
esv3647304 CNV loss 21293372
esv3647305 CNV gain 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062280 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv436864 CNV insertion 17901297
nsv471185 CNV loss 18288195
nsv520145 CNV loss 19592680
nsv523162 CNV loss 19592680
nsv588305 CNV loss 21841781
nsv588306 CNV gain 21841781
nsv828960 CNV loss 20364138
nsv828961 CNV gain 20364138
nsv834141 CNV loss 17160897
nsv834142 CNV gain 17160897

Variation tolerance for LZTR1 Gene

Residual Variation Intolerance Score: 1.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LZTR1 Gene

Human Gene Mutation Database (HGMD)
LZTR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LZTR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LZTR1 Gene

Disorders for LZTR1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for LZTR1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schwannomatosis 2
  • swnts2
noonan syndrome 10
  • ns10
noonan syndrome 2
  • ns2
gliosarcoma
  • glioblastoma with sarcomatous component
giant cell glioblastoma
  • monstrocellular sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search LZTR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LZTR1_HUMAN
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:30442766}. Note=The protein represented in this entry may be involved in disease pathogenesis.
  • Schwannomatosis 2 (SWNTS2) [MIM:615670]: A cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269 PubMed:24362817, ECO:0000269 PubMed:25335493, ECO:0000269 PubMed:25480913, ECO:0000269 PubMed:30442762, ECO:0000269 PubMed:30442766, ECO:0000269 PubMed:30481304}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Noonan syndrome 10 (NS10) [MIM:616564]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant. {ECO:0000269 PubMed:25795793, ECO:0000269 PubMed:29959388, ECO:0000269 PubMed:30368668, ECO:0000269 PubMed:30442762, ECO:0000269 PubMed:30442766, ECO:0000269 PubMed:30481304}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Noonan syndrome 2 (NS2) [MIM:605275]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS2 inheritance is autosomal recessive. {ECO:0000269 PubMed:29469822, ECO:0000269 PubMed:30368668, ECO:0000269 PubMed:30481304}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LZTR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LZTR1: view

No data available for Genatlas for LZTR1 Gene

Publications for LZTR1 Gene

  1. The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. (PMID: 16356934) Nacak TG … Kroll J (The Journal of biological chemistry 2006) 2 3 4 23 56
  2. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (PMID: 7633402) Kurahashi H … Nishisho I (Human molecular genetics 1995) 2 3 4 56
  3. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. (PMID: 30368668) Umeki I … Aoki Y (Human genetics 2019) 3 4 56
  4. LZTR1 is a regulator of RAS ubiquitination and signaling. (PMID: 30442766) Bigenzahn JW … Superti-Furga G (Science (New York, N.Y.) 2018) 3 4 56
  5. Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. (PMID: 30442762) Steklov M … Sablina AA (Science (New York, N.Y.) 2018) 3 4 56

Products for LZTR1 Gene

Sources for LZTR1 Gene