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

Gene ID: 8216, updated on 27-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
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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
  • 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

Variation

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See Variation Viewer (GRCh37.p13)

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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