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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
  • LZTR-1 3 4
  • 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 HCFC1.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G020978 1.7 Ensembl ENCODE dbSUPER 23.4 +2.1 2103 5.3 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 MEF2D SSRP1 ZNF610 LOC100420177 THAP7 THAP7-AS1 LZTR1 ABHD17AP4 ENSG00000273343 DGCR8 SNAP29 PI4KA YDJC
GH22G021000 1.4 ENCODE dbSUPER 14.8 +22.6 22622 4.5 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 THAP7-AS1 LOC100420177 LZTR1 THAP7 ABHD17AP4 DGCR8 P2RX6
GH22G020916 1.6 Ensembl ENCODE dbSUPER 11.4 -60.6 -60566 5.7 HNRNPUL1 PKNOX1 MLX AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SNAP29 SERPIND1 ENSG00000273343 PI4KA ABHD17AP4 AIFM3 LZTR1 LOC100420177 BCRP2 CRKL
GH22G020947 1.3 ENCODE dbSUPER 13.2 -26.2 -26186 10.6 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX AGO1 ARID4B SIN3A YBX1 FEZF1 SERPIND1 CRKL SNAP29 PI4KA LZTR1 ABHD17AP4 BCRP2 PIR59902 GC22P020955
GH22G020946 1.2 Ensembl ENCODE dbSUPER 12.7 -33.1 -33086 0.4 HDGF HDAC6 JUN HLF TEAD2 HDAC8 POLR2A ID3 KDM5B FOS SNAP29 LZTR1 CRKL PIR47432
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LZTR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LZTR1 Gene

Chromosome:
22
Start:
20,979,462 bp from pter
End:
20,999,038 bp from pter
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:
    No Data Available
    SequenceCaution:
    • Sequence=BAA07508.1; Type=Frameshift; Positions=16, 69, 222; Evidence={ECO:0000305};

neXtProt entry for LZTR1 Gene

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

Suggested Antigen Peptide Sequences for LZTR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LZTR1: view

No data available for UniProtKB/Swiss-Prot for LZTR1 Gene

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:0003700 transcription factor activity, sequence-specific DNA binding TAS 7633402
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

CRISPR Products

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

Localization for LZTR1 Gene

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
golgi apparatus 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 16356934
genes like me logo Genes that share ontologies with LZTR1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LZTR1 Gene

Pathways & Interactions for LZTR1 Gene

SuperPathways for LZTR1 Gene

No Data Available

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
genes like me logo Genes that share ontologies with LZTR1: view

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

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: - -
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, PaxDb, 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
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia LZTR1 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia LZTR1 34 35
  • 91.24 (n)
cow
(Bos Taurus)
Mammalia LZTR1 34 35
  • 90.08 (n)
rat
(Rattus norvegicus)
Mammalia Lztr1 34
  • 87.95 (n)
mouse
(Mus musculus)
Mammalia Lztr1 34 16 35
  • 87.76 (n)
oppossum
(Monodelphis domestica)
Mammalia LZTR1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves LZTR1 34
  • 80.04 (n)
-- 35
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia LZTR1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lztr1 34
  • 75.39 (n)
zebrafish
(Danio rerio)
Actinopterygii lztr1 34 35
  • 76.91 (n)
Dr.19626 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5275 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004292 34
  • 61.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3711 34 35
  • 60.46 (n)
EG:BACR7A4.19 36
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 35
  • 14 (a)
ManyToMany
KEL1 35
  • 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)

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
rs587777177 Pathogenic, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,987,548(+) CCACT(C/T)GGCCG reference, missense
rs587777178 Pathogenic, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,995,865(+) CCGCC(C/T)GCTCC reference, missense
rs587777180 Pathogenic, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,993,967(+) AGCGC(A/G)GAGCC reference, missense
rs797045165 Pathogenic, Noonan syndrome 10 (NS10) [MIM:616564] 20,991,686(+) AGCGG(C/T)GCTAC reference, missense
rs797045166 Pathogenic, Noonan syndrome 10 (NS10) [MIM:616564] 20,990,474(+) GCAAA(A/G)CGGAG reference, missense

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)

Relevant External Links for LZTR1 Gene

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

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

Disorders for LZTR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
schwannomatosis-2
  • schwannomatosis 2
noonan syndrome 10
  • ns10
giant cell glioblastoma
  • monstrocellular sarcoma [obs]
gliosarcoma
  • glioblastoma with sarcomatous component
lztr1-related noonan syndrome
  • noonan syndrome 10
- 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
  • 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)
LZTR1
Human Genome Epidemiology (HuGE) Navigator
LZTR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LZTR1
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 T.G. … Kroll J. (J. Biol. Chem. 2006) 2 3 22 64
  2. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (PMID: 7633402) Kurahashi H. … Nishisho I. (Hum. Mol. Genet. 1995) 2 3 4 64
  3. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (PMID: 25795793) Yamamoto G.L. … Bertola D.R. (J. Med. Genet. 2015) 3 4 64
  4. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. (PMID: 24362817) Piotrowski A. … Messiaen L.M. (Nat. Genet. 2014) 3 4 64
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64

Products for LZTR1 Gene

Sources for LZTR1 Gene

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