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    Lztr1 leucine-zipper-like transcriptional regulator, 1 [ Mus musculus (house mouse) ]

    Gene ID: 66863, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Lztr1provided by MGI
    Official Full Name
    leucine-zipper-like transcriptional regulator, 1provided by MGI
    Primary source
    MGI:MGI:1914113
    See related
    Ensembl:ENSMUSG00000022761 AllianceGenome:MGI:1914113
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1200003E21Rik
    Summary
    This gene encodes a member of the BR-C, ttk and bab-kelch superfamily that, in humans, localizes to the Golgi network and is associated with the ras / mitogen-activated protein kinase pathway. Loss-of-function mutations in the human ortholog are associated with glioblastoma multiforme, schwannomatosis, Noonan syndrome, and DiGeorge syndrome. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in ovary adult (RPKM 35.0), CNS E18 (RPKM 32.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lztr1 in Genome Data Viewer
    Location:
    16 A3; 16 10.85 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (17326124..17344197)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (17508260..17526333)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4158 Neighboring gene v-crk avian sarcoma virus CT10 oncogene homolog-like Neighboring gene STARR-seq mESC enhancer starr_40255 Neighboring gene apoptosis-inducing factor, mitochondrion-associated 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:17531169-17531278 Neighboring gene THAP domain containing 7 Neighboring gene leucine rich repeat containing 74B Neighboring gene STARR-positive B cell enhancer ABC_E10890

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking. Sewduth RN, et al. Circ Res, 2020 May 8. PMID 32175818, Free PMC Article
    2. Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs. Cuevas-Navarro A, et al. Elife, 2022 Apr 25. PMID 35467524, Free PMC Article
    3. Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation. Chen S, et al. Cancer Discov, 2022 Oct 5. PMID 35904492, Free PMC Article
    4. LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL. Ko A, et al. Cancer Discov, 2023 Mar 1. PMID 36445254
    5. RIT1 oncoproteins escape LZTR1-mediated proteolysis. Castel P, et al. Science, 2019 Mar 15. PMID 30872527, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs.
      Title: Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs.
    2. The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking.
      Title: The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (3)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of Ras protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Ras protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endomembrane system ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endomembrane system ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in recycling endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in recycling endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    leucine-zipper-like transcriptional regulator 1
    Names
    LZTR-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.

    mRNA and Protein(s)

    1. NM_001331226.1 → NP_001318155.1  leucine-zipper-like transcriptional regulator 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK004561, BF457766, BY005614, BY146849
      UniProtKB/TrEMBL
      A0A338P6P0

    2. NM_001331227.1 → NP_001318156.1  leucine-zipper-like transcriptional regulator 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at an internal exon and initiates translation from a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC113006, AK004561, BF457766
      UniProtKB/Swiss-Prot
      Q9CQ33
      Conserved Domains (8) summary
      PLN02153
      Location:1 → 107
      PLN02153; epithiospecifier protein
      sd00038
      Location:45 → 146
      Kelch; KELCH repeat [structural motif]
      cd18308
      Location:181 → 332
      BTB1_POZ_LZTR1; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18309
      Location:408 → 533
      BTB2_POZ_LZTR1; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18505
      Location:336 → 394
      BACK1_LZTR1; first BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18506
      Location:529 → 589
      BACK2_LZTR1; second BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      pfam01344
      Location:44 → 87
      Kelch_1; Kelch motif
      pfam03089
      Location:128 → 181
      RAG2; Recombination activating protein 2

    3. NM_025808.4 → NP_080084.2  leucine-zipper-like transcriptional regulator 1 isoform 1

      See identical proteins and their annotated locations for NP_080084.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC113006, AK004561, BF457766
      Consensus CDS
      CCDS37272.1
      UniProtKB/Swiss-Prot
      Q9CQ33
      UniProtKB/TrEMBL
      A0A338P6P0
      Related
      ENSMUSP00000023444.4, ENSMUST00000023444.11
      Conserved Domains (7) summary
      smart00225
      Location:665 → 762
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:571 → 631
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      sd00038
      Location:65 → 111
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:662 → 761
      BTB; BTB/POZ domain
      pfam01344
      Location:280 → 323
      Kelch_1; Kelch motif
      pfam13415
      Location:74 → 123
      Kelch_3; Galactose oxidase, central domain
      pfam13418
      Location:171 → 217
      Kelch_4; Galactose oxidase, central domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      17326124..17344197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522477.3 → XP_006522540.1  leucine-zipper-like transcriptional regulator 1 isoform X1

      UniProtKB/TrEMBL
      Q3V0X6
      Conserved Domains (6) summary
      PLN02153
      Location:65 → 347
      PLN02153; epithiospecifier protein
      sd00038
      Location:65 → 111
      Kelch; KELCH repeat [structural motif]
      cd18308
      Location:417 → 568
      BTB1_POZ_LZTR1; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18505
      Location:572 → 630
      BACK1_LZTR1; first BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cl38908
      Location:644 → 686
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam03089
      Location:364 → 417
      RAG2; Recombination activating protein 2

    2. XM_030249246.1 → XP_030105106.1  leucine-zipper-like transcriptional regulator 1 isoform X3

      UniProtKB/TrEMBL
      A0A338P6Y5
      Conserved Domains (5) summary
      cd18308
      Location:84 → 235
      BTB1_POZ_LZTR1; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18309
      Location:311 → 436
      BTB2_POZ_LZTR1; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18505
      Location:239 → 297
      BACK1_LZTR1; first BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18506
      Location:432 → 492
      BACK2_LZTR1; second BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      pfam03089
      Location:31 → 84
      RAG2; Recombination activating protein 2

    3. XM_017317119.2 → XP_017172608.1  leucine-zipper-like transcriptional regulator 1 isoform X2

      Conserved Domains (8) summary
      PLN02153
      Location:1 → 107
      PLN02153; epithiospecifier protein
      sd00038
      Location:45 → 146
      Kelch; KELCH repeat [structural motif]
      cd18308
      Location:181 → 332
      BTB1_POZ_LZTR1; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18309
      Location:408 → 533
      BTB2_POZ_LZTR1; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18505
      Location:336 → 394
      BACK1_LZTR1; first BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18506
      Location:529 → 589
      BACK2_LZTR1; second BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      pfam01344
      Location:44 → 87
      Kelch_1; Kelch motif
      pfam03089
      Location:128 → 181
      RAG2; Recombination activating protein 2

    4. XM_017317121.2 → XP_017172610.1  leucine-zipper-like transcriptional regulator 1 isoform X3

      UniProtKB/TrEMBL
      A0A338P6Y5
      Conserved Domains (5) summary
      cd18308
      Location:84 → 235
      BTB1_POZ_LZTR1; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18309
      Location:311 → 436
      BTB2_POZ_LZTR1; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18505
      Location:239 → 297
      BACK1_LZTR1; first BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18506
      Location:432 → 492
      BACK2_LZTR1; second BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      pfam03089
      Location:31 → 84
      RAG2; Recombination activating protein 2

    5. XM_017317120.2 → XP_017172609.1  leucine-zipper-like transcriptional regulator 1 isoform X3

      UniProtKB/TrEMBL
      A0A338P6Y5
      Related
      ENSMUSP00000156018.2, ENSMUST00000231307.2
      Conserved Domains (5) summary
      cd18308
      Location:84 → 235
      BTB1_POZ_LZTR1; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18309
      Location:311 → 436
      BTB2_POZ_LZTR1; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18505
      Location:239 → 297
      BACK1_LZTR1; first BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      cd18506
      Location:432 → 492
      BACK2_LZTR1; second BACK (BTB and C-terminal Kelch) domain found in leucine-zipper-like transcriptional regulator 1 (LZTR-1)
      pfam03089
      Location:31 → 84
      RAG2; Recombination activating protein 2
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CQ33.2 GenPept UniProtKB/Swiss-Prot:Q9CQ33

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