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    LZTR1 leucine zipper like post translational regulator 1 [ Homo sapiens (human) ]

    Gene ID: 8216, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LZTR1provided by HGNC
    Official Full Name
    leucine zipper like post translational regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:6742
    See related
    Ensembl:ENSG00000099949 MIM:600574; AllianceGenome:HGNC:6742
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NS2; NS10; BTBD29; LZTR-1; SWNTS2
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 12.6), ovary (RPKM 12.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LZTR1 in Genome Data Viewer
    Location:
    22q11.21; 22q11.1-q11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20982297..20999032)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21391107..21407823)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21336586..21353321)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21311117-21311712 Neighboring gene long intergenic non-protein coding RNA 1637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18691 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21326197-21326388 Neighboring gene AIF family member 3 Neighboring gene Sharpr-MPRA regulatory region 818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21353453-21354008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13506 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21357012-21357402 Neighboring gene THAP7 antisense RNA 1 Neighboring gene THAP domain containing 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21363733-21363878 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:21364621-21365436 Neighboring gene tubulin alpha 3f pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18695 Neighboring gene purinergic receptor P2X 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome. Busley AV, et al. Cell Rep, 2024 Jul 23. PMID 39003740
    2. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities. Yu QX, et al. Prenat Diagn, 2023 Dec. PMID 37936555
    3. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Kurahashi H, et al. Hum Mol Genet, 1995 Apr. PMID 7633402
    4. Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation. Köllges R, et al. Biomolecules, 2023 Jul 13. PMID 37509153, Free PMC Article
    5. Coexistence of schwannomatosis and glioblastoma in two families. Deiller C, et al. Eur J Med Genet, 2019 Aug. PMID 31128261

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex.
      Title: Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex.
    2. Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
      Title: Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
    3. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
      Title: Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
    4. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
      Title: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
    5. Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
      Title: Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
    6. LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.
      Title: LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.
    7. LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
      Title: LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
    8. Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
      Title: Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
    9. The GSK3 kinase and LZTR1 protein regulate the stability of Ras family proteins and the proliferation of pancreatic cancer cells.
      Title: The GSK3 kinase and LZTR1 protein regulate the stability of Ras family proteins and the proliferation of pancreatic cancer cells.
    10. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
      Title: Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Noonan syndrome 10
    MedGen: C4225280 OMIM: 616564 GeneReviews: Noonan Syndrome
    		not available
    Noonan syndrome 2
    MedGen: C1854469 OMIM: 605275 GeneReviews: Noonan Syndrome
    		not available
    Schwannomatosis
    MedGen: C1335929 GeneReviews: LZTR1- and SMARCB1-Related Schwannomatosis
    		not available
    Schwannomatosis 2
    MedGen: C3810283 OMIM: 615670 GeneReviews: LZTR1- and SMARCB1-Related Schwannomatosis
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: AIFM3

    Homology

    Clone Names

    • MGC21205

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endomembrane system IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    leucine-zipper-like transcriptional regulator 1
    Names
    epididymis secretory sperm binding protein
    leucine zipper like transcription regulator 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034193.1 RefSeqGene

      Range
      5029..21764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_989

    mRNA and Protein(s)

    1. NM_006767.4 → NP_006758.2  leucine-zipper-like transcriptional regulator 1

      See identical proteins and their annotated locations for NP_006758.2

      Status: REVIEWED

      Source sequence(s)
      BC026214, CT841521, DA194822
      Consensus CDS
      CCDS33606.1
      UniProtKB/Swiss-Prot
      Q14776, Q20WK0, Q8N653
      UniProtKB/TrEMBL
      A0A384NL67, B7Z3T9
      Related
      ENSP00000496779.1, ENST00000646124.2
      Conserved Domains (5) summary
      cd14821
      Location:574 → 634
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      sd00038
      Location:68 → 114
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:665 → 753
      BTB; BTB/POZ domain
      cl02518
      Location:433 → 573
      BTB; BTB/POZ domain
      cl26061
      Location:160 → 407
      PLN02193; nitrile-specifier protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      20982297..20999032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21391107..21407823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N653.2 GenPept UniProtKB/Swiss-Prot:Q8N653

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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