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

Gene ID: 66863, updated on 21-Apr-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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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
  • 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 (36) 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (4) 

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
  
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 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
  
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 endomembrane system ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in recycling endosome membrane ISO
Inferred from Sequence Orthology
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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