Details for: LZTR1

Gene ID: 8216

Symbol: LZTR1

Ensembl ID: ENSG00000099949

Description: leucine zipper like post translational regulator 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 91.1953
    Cell Significance Index: -14.1900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 54.6436
    Cell Significance Index: -13.8600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 30.5348
    Cell Significance Index: -12.4100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 30.3099
    Cell Significance Index: -14.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.6428
    Cell Significance Index: -14.3600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.8939
    Cell Significance Index: -13.1100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6644
    Cell Significance Index: -14.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.4609
    Cell Significance Index: -10.6300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.2545
    Cell Significance Index: 26.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7501
    Cell Significance Index: 677.2700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6512
    Cell Significance Index: 14.2600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4927
    Cell Significance Index: 13.7700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4778
    Cell Significance Index: 77.7100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4699
    Cell Significance Index: 12.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4448
    Cell Significance Index: 89.2300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4417
    Cell Significance Index: 48.0500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3133
    Cell Significance Index: 18.8100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2781
    Cell Significance Index: 55.2000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2723
    Cell Significance Index: 5.9000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2582
    Cell Significance Index: 178.5900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2355
    Cell Significance Index: 27.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2315
    Cell Significance Index: 6.6700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2272
    Cell Significance Index: 81.4800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2207
    Cell Significance Index: 21.8400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2197
    Cell Significance Index: 15.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2011
    Cell Significance Index: 9.1200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1965
    Cell Significance Index: 12.0800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1947
    Cell Significance Index: 12.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1631
    Cell Significance Index: 8.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1525
    Cell Significance Index: 19.5500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1511
    Cell Significance Index: 2.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1470
    Cell Significance Index: 20.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1140
    Cell Significance Index: 20.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0889
    Cell Significance Index: 6.8200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0871
    Cell Significance Index: 5.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0788
    Cell Significance Index: 2.7700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0740
    Cell Significance Index: 14.0900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0693
    Cell Significance Index: 3.8900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0512
    Cell Significance Index: 22.6500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0502
    Cell Significance Index: 1.0500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0372
    Cell Significance Index: 1.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0365
    Cell Significance Index: 19.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0309
    Cell Significance Index: 3.8100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0233
    Cell Significance Index: 0.4000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0210
    Cell Significance Index: 0.9800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0188
    Cell Significance Index: 0.4500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0173
    Cell Significance Index: 0.2900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0047
    Cell Significance Index: 8.8600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0009
    Cell Significance Index: -0.5900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0010
    Cell Significance Index: -1.7600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0037
    Cell Significance Index: -0.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0039
    Cell Significance Index: -6.0800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0050
    Cell Significance Index: -0.5900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0059
    Cell Significance Index: -7.9900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0122
    Cell Significance Index: -8.9700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0133
    Cell Significance Index: -10.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0154
    Cell Significance Index: -11.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0167
    Cell Significance Index: -7.6000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0226
    Cell Significance Index: -12.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0253
    Cell Significance Index: -0.6900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0255
    Cell Significance Index: -15.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0315
    Cell Significance Index: -5.3800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0328
    Cell Significance Index: -3.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0406
    Cell Significance Index: -11.6800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0467
    Cell Significance Index: -3.1400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0475
    Cell Significance Index: -2.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0573
    Cell Significance Index: -7.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0596
    Cell Significance Index: -1.2700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0597
    Cell Significance Index: -6.8500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0689
    Cell Significance Index: -2.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0691
    Cell Significance Index: -10.0400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0729
    Cell Significance Index: -15.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0954
    Cell Significance Index: -7.1100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1031
    Cell Significance Index: -1.4800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1130
    Cell Significance Index: -3.2300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1209
    Cell Significance Index: -3.1800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1249
    Cell Significance Index: -3.5800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1278
    Cell Significance Index: -13.3100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1368
    Cell Significance Index: -7.1800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1538
    Cell Significance Index: -9.4300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1601
    Cell Significance Index: -12.6800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1904
    Cell Significance Index: -9.9200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2148
    Cell Significance Index: -2.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2191
    Cell Significance Index: -5.8500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2193
    Cell Significance Index: -7.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2437
    Cell Significance Index: -7.7600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2445
    Cell Significance Index: -5.1900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2511
    Cell Significance Index: -8.2200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2639
    Cell Significance Index: -7.0600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2806
    Cell Significance Index: -8.2400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2884
    Cell Significance Index: -4.1300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2914
    Cell Significance Index: -10.2100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2936
    Cell Significance Index: -3.5000
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3154
    Cell Significance Index: -4.5200
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.3164
    Cell Significance Index: -5.4700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3209
    Cell Significance Index: -3.9800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3230
    Cell Significance Index: -5.9700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3408
    Cell Significance Index: -8.7600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3451
    Cell Significance Index: -5.2000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3466
    Cell Significance Index: -6.9600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** LZTR1 is a post-translational regulator, which means it modifies the function of proteins after they have been synthesized. Its primary mechanism of action involves the interaction with other proteins, facilitated by its leucine zipper domain, a conserved structural motif found in various transcription factors and regulatory proteins. This domain enables LZTR1 to bind to specific partners, influencing their activity and, subsequently, cellular processes. Furthermore, LZTR1's involvement in the ubiquitination pathway highlights its capacity to regulate protein degradation and signaling, a critical aspect of cellular homeostasis. **Pathways and Functions:** LZTR1's involvement in various cellular processes can be attributed to its participation in multiple pathways, including: 1. **Cul3-Ring Ubiquitin Ligase Complex:** LZTR1 interacts with the Cul3-Ring ubiquitin ligase complex, a key regulator of protein degradation and signaling. This interaction modulates the activity of target proteins, influencing cellular processes such as cell cycle regulation, apoptosis, and immune responses. 2. **Endomembrane System and Golgi Apparatus:** LZTR1's involvement in the endomembrane system and Golgi apparatus highlights its role in regulating protein trafficking, secretion, and degradation. This, in turn, affects cellular processes such as cell signaling, immune responses, and epithelial function. 3. **Negative Regulation of Ras Protein Signal Transduction:** LZTR1's interaction with Ras proteins, a family of small GTPases, modulates their activity and, consequently, signaling pathways. This negative regulation is crucial for maintaining cellular homeostasis and preventing excessive signaling. 4. **Protein Binding and Ubiquitination:** LZTR1's leucine zipper domain enables it to bind to specific proteins, while its ubiquitination pathway regulates protein degradation and signaling. These interactions are essential for modulating cellular processes, including immune responses, neuronal signaling, and epithelial function. **Clinical Significance:** The dysregulation of LZTR1 has been implicated in various diseases, including: 1. **Cancer:** Alterations in LZTR1 expression and function have been observed in various types of cancer, including colon cancer, where it is often overexpressed. 2. **Neurological Disorders:** LZTR1's involvement in neuronal signaling and immune responses makes it a potential target for the treatment of neurological disorders, such as Alzheimer's disease and multiple sclerosis. 3. **Immune-Mediated Diseases:** LZTR1's role in regulating immune responses makes it a potential target for the treatment of immune-mediated diseases, such as autoimmune disorders and inflammatory conditions. In conclusion, LZTR1 is a complex gene that regulates various cellular processes through its leucine zipper domain and ubiquitination pathway. Its dysregulation has been implicated in various diseases, highlighting the need for further research into its mechanisms and potential therapeutic applications.

Genular Protein ID: 2856044849

Symbol: LZTR1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7633402

Title: Isolation and characterization of a novel gene deleted in DiGeorge syndrome.

PubMed ID: 7633402

DOI: 10.1093/hmg/4.4.541

PubMed ID: 16356934

Title: The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.

PubMed ID: 16356934

DOI: 10.1074/jbc.m509073200

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24362817

Title: Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

PubMed ID: 24362817

DOI: 10.1038/ng.2855

PubMed ID: 25795793

Title: Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

PubMed ID: 25795793

DOI: 10.1136/jmedgenet-2015-103018

PubMed ID: 30442762

Title: Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

PubMed ID: 30442762

DOI: 10.1126/science.aap7607

PubMed ID: 30442766

Title: LZTR1 is a regulator of RAS ubiquitination and signaling.

PubMed ID: 30442766

DOI: 10.1126/science.aap8210

PubMed ID: 30481304

Title: Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

PubMed ID: 30481304

DOI: 10.1093/hmg/ddy412

PubMed ID: 25480913

Title: Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

PubMed ID: 25480913

DOI: 10.1212/wnl.0000000000001129

PubMed ID: 25335493

Title: Expanding the mutational spectrum of LZTR1 in schwannomatosis.

PubMed ID: 25335493

DOI: 10.1038/ejhg.2014.220

PubMed ID: 29469822

Title: Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

PubMed ID: 29469822

DOI: 10.1038/gim.2017.249

PubMed ID: 29959388

Title: Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

PubMed ID: 29959388

DOI: 10.1038/s41436-018-0041-5

PubMed ID: 30368668

Title: Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

PubMed ID: 30368668

DOI: 10.1007/s00439-018-1951-7

PubMed ID: 34626534

Title: SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

PubMed ID: 34626534

DOI: 10.1016/j.ajhg.2021.09.007

Sequence Information:

  • Length: 840
  • Mass: 94719
  • Checksum: AAF172940BAEA92B
  • Sequence:
  • MAGPGSTGGQ IGAAALAGGA RSKVAPSVDF DHSCSDSVEY LTLNFGPFET VHRWRRLPPC 
    DEFVGARRSK HTVVAYKDAI YVFGGDNGKT MLNDLLRFDV KDCSWCRAFT TGTPPAPRYH 
    HSAVVYGSSM FVFGGYTGDI YSNSNLKNKN DLFEYKFATG QWTEWKIEGR LPVARSAHGA 
    TVYSDKLWIF AGYDGNARLN DMWTIGLQDR ELTCWEEVAQ SGEIPPSCCN FPVAVCRDKM 
    FVFSGQSGAK ITNNLFQFEF KDKTWTRIPT EHLLRGSPPP PQRRYGHTMV AFDRHLYVFG 
    GAADNTLPNE LHCYDVDFQT WEVVQPSSDS EVGGAEVPER ACASEEVPTL TYEERVGFKK 
    SRDVFGLDFG TTSAKQPTQP ASELPSGRLF HAAAVISDAM YIFGGTVDNN IRSGEMYRFQ 
    FSCYPKCTLH EDYGRLWESR QFCDVEFVLG EKEECVQGHV AIVTARSRWL RRKITQARER 
    LAQKLEQEAA PVPREAPGVA AGGARPPLLH VAIREAEARP FEVLMQFLYT DKIKYPRKGH 
    VEDVLLIMDV YKLALSFQLC RLEQLCRQYI EASVDLQNVL VVCESAARLQ LSQLKEHCLN 
    FVVKESHFNQ VIMMKEFERL SSPLIVEIVR RKQQPPPRTP LDQPVDIGTS LIQDMKAYLE 
    GAGAEFCDIT LLLDGHPRPA HKAILAARSS YFEAMFRSFM PEDGQVNISI GEMVPSRQAF 
    ESMLRYIYYG EVNMPPEDSL YLFAAPYYYG FYNNRLQAYC KQNLEMNVTV QNVLQILEAA 
    DKTQALDMKR HCLHIIVHQF TKVSKLPTLR SLSQQLLLDI IDSLASHISD KQCAELGADI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.