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Aliases for LZTR1 Gene

Aliases for LZTR1 Gene

  • Leucine-Zipper-Like Transcription Regulator 1 2 3 5
  • LZTR-1 3 4
  • Leucine-Zipper-Like Transcriptional Regulator 1 2
  • BTBD29 3
  • SWNTS2 3
  • TCFL2 4
  • NS10 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]

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. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is KLHDC1.

UniProtKB/Swiss-Prot for LZTR1 Gene

  • Probable transcriptional regulator that may play a crucial role in embryogenesis.

Gene Wiki entry for LZTR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LZTR1 Gene

Genomics for LZTR1 Gene

Regulatory Elements for LZTR1 Gene

Enhancers for LZTR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LZTR1 on UCSC Golden Path with GeneCards custom track

Promoters for LZTR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LZTR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LZTR1 Gene

20,979,462 bp from pter
20,999,038 bp from pter
19,577 bases
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:
    Recommended name:
    Leucine-zipper-like transcriptional regulator 1
    Protein Accession:
    Secondary Accessions:
    • Q14776
    • Q20WK0

    Protein attributes for LZTR1 Gene

    840 amino acids
    Molecular mass:
    94719 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA07508.1; Type=Frameshift; Positions=16, 69, 222; Evidence={ECO:0000305};

neXtProt entry for LZTR1 Gene

Proteomics data for LZTR1 Gene at MOPED

Post-translational modifications for LZTR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LZTR1 Gene

No data available for DME Specific Peptides for LZTR1 Gene

Domains & Families for LZTR1 Gene

Gene Families for LZTR1 Gene

Protein Domains for LZTR1 Gene

Suggested Antigen Peptide Sequences for LZTR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 BTB (POZ) domains.
  • Contains 6 Kelch repeats.
  • Contains 2 BTB (POZ) domains.
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with LZTR1: view

Function for LZTR1 Gene

Molecular function for LZTR1 Gene

GENATLAS Biochemistry:
leucine zipper-like transcriptional regulator 1,deleted in DiGeorge syndrome
UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator that may play a crucial role in embryogenesis.

Gene Ontology (GO) - Molecular Function for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
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:

Animal Model Products

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

Localization for LZTR1 Gene

Subcellular locations from

Jensen Localization Image for LZTR1 Gene COMPARTMENTS Subcellular localization image for LZTR1 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for LZTR1 Gene

Pathways & Interactions for LZTR1 Gene

SuperPathways for LZTR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LZTR1 Gene


No data available for Pathways by source and SIGNOR curated interactions for LZTR1 Gene

Drugs & Compounds for LZTR1 Gene

No Compound Related Data Available

Transcripts for LZTR1 Gene

Unigene Clusters for LZTR1 Gene

Leucine-zipper-like transcription regulator 1:
Representative Sequences:

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: - -
SP4: -
SP5: - - -
SP6: - -
SP8: -

ExUns: 17d · 17e ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c
SP1: - - -
SP3: - - - -
SP9: - - -
SP10: -
SP14: - - - - -

Relevant External Links for LZTR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LZTR1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for LZTR1 Gene

SOURCE GeneReport for Unigene cluster for LZTR1 Gene Hs.78788

genes like me logo Genes that share expression patterns with LZTR1: view

Protein tissue co-expression partners for LZTR1 Gene

- Elite partner

Primer Products

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
(Bos Taurus)
Mammalia LZTR1 35
  • 90.08 (n)
  • 95.49 (a)
LZTR1 36
  • 94 (a)
(Canis familiaris)
Mammalia LZTR1 35
  • 91.24 (n)
  • 96.23 (a)
LZTR1 36
  • 96 (a)
(Mus musculus)
Mammalia Lztr1 35
  • 87.76 (n)
  • 96.1 (a)
Lztr1 16
Lztr1 36
  • 95 (a)
(Pan troglodytes)
Mammalia LZTR1 35
  • 99.29 (n)
  • 99.88 (a)
LZTR1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Lztr1 35
  • 87.95 (n)
  • 96.09 (a)
(Monodelphis domestica)
Mammalia LZTR1 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
-- 36
  • 75 (a)
-- 36
  • 68 (a)
(Gallus gallus)
Aves LZTR1 35
  • 80.04 (n)
  • 89.48 (a)
-- 36
  • 21 (a)
(Anolis carolinensis)
Reptilia LZTR1 36
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lztr1 35
  • 75.39 (n)
  • 88.02 (a)
(Danio rerio)
Actinopterygii Dr.19626 35
lztr1 35
  • 76.91 (n)
  • 88.76 (a)
lztr1 36
  • 87 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5275 35
fruit fly
(Drosophila melanogaster)
Insecta EG:BACR7A4.19 37
  • 44 (a)
CG3711 35
  • 60.46 (n)
  • 56.66 (a)
CG3711 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004292 35
  • 61.15 (n)
  • 60.21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL1 36
  • 11 (a)
KEL2 36
  • 14 (a)
Species with no ortholog for LZTR1:
  • 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

Gene Tree for LZTR1 (if available)
Gene Tree for LZTR1 (if available)

Paralogs for LZTR1 Gene

Paralogs for LZTR1 Gene

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

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 Sequence Context AA Info Type
VAR_071145 Schwannomatosis 2 (SWNTS2)
VAR_071146 Schwannomatosis 2 (SWNTS2)
VAR_071147 Schwannomatosis 2 (SWNTS2)
VAR_071148 Schwannomatosis 2 (SWNTS2)
VAR_071149 Schwannomatosis 2 (SWNTS2)

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

Variant ID Type Subtype PubMed ID
nsv436864 CNV Insertion 17901297
nsv914390 CNV Gain 21882294
nsv523162 CNV Loss 19592680
esv2678175 CNV Deletion 23128226
nsv914419 CNV Gain 21882294
nsv834141 CNV Loss 17160897
dgv4872n71 CNV Loss 21882294
nsv914423 CNV Gain 21882294
nsv828960 CNV Loss 20364138
nsv914424 CNV Loss 21882294
nsv914425 CNV Loss 21882294
dgv4873n71 CNV Loss 21882294
nsv520145 CNV Loss 19592680
nsv471185 CNV Loss 18288195
nsv834142 CNV Gain 17160897
nsv828961 CNV Gain 20364138
nsv914428 CNV Loss 21882294
esv2724010 CNV Deletion 23290073

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)

Relevant External Links for LZTR1 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for LZTR1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LZTR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
  • schwannomatosis 2
noonan syndrome 10
  • ns10
  • glioblastoma with sarcomatous component
giant cell glioblastoma
  • monstrocellular sarcoma [obs]
noonan syndrome 1
  • noonan syndrome
- elite association - COSMIC cancer census association via MalaCards
Search LZTR1 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:25795793}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for LZTR1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (PMID: 7633402) Kurahashi H. … Nishisho I. (Hum. Mol. Genet. 1995) 2 3 4 67
  2. The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. (PMID: 16356934) Nacak T.G. … Kroll J. (J. Biol. Chem. 2006) 2 3 23
  3. Expanding the mutational spectrum of LZTR1 in schwannomatosis. (PMID: 25335493) Paganini I. … Papi L. (Eur. J. Hum. Genet. 2015) 3
  4. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. (PMID: 25480913) Smith M.J. … Evans D.G. (Neurology 2015) 3
  5. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3

Products for LZTR1 Gene

Sources for LZTR1 Gene