LZTR1
Leucine-zipper-like transcriptional regulator 1
Also known as: BTBD29, LZTR-1, LZTR1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N653
- Gene
- LZTR1
- Ensembl
- ENSG00000099949
- Chromosome
- 22
- Canonical length
- 840 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
840 residues, UniProt reviewed canonical sequence.
>Q8N653|LZTR1
1 MAGPGSTGGQ IGAAALAGGA RSKVAPSVDF DHSCSDSVEY LTLNFGPFET VHRWRRLPPC
61 DEFVGARRSK HTVVAYKDAI YVFGGDNGKT MLNDLLRFDV KDCSWCRAFT TGTPPAPRYH
121 HSAVVYGSSM FVFGGYTGDI YSNSNLKNKN DLFEYKFATG QWTEWKIEGR LPVARSAHGA
181 TVYSDKLWIF AGYDGNARLN DMWTIGLQDR ELTCWEEVAQ SGEIPPSCCN FPVAVCRDKM
241 FVFSGQSGAK ITNNLFQFEF KDKTWTRIPT EHLLRGSPPP PQRRYGHTMV AFDRHLYVFG
301 GAADNTLPNE LHCYDVDFQT WEVVQPSSDS EVGGAEVPER ACASEEVPTL TYEERVGFKK
361 SRDVFGLDFG TTSAKQPTQP ASELPSGRLF HAAAVISDAM YIFGGTVDNN IRSGEMYRFQ
421 FSCYPKCTLH EDYGRLWESR QFCDVEFVLG EKEECVQGHV AIVTARSRWL RRKITQARER
481 LAQKLEQEAA PVPREAPGVA AGGARPPLLH VAIREAEARP FEVLMQFLYT DKIKYPRKGH
541 VEDVLLIMDV YKLALSFQLC RLEQLCRQYI EASVDLQNVL VVCESAARLQ LSQLKEHCLN
601 FVVKESHFNQ VIMMKEFERL SSPLIVEIVR RKQQPPPRTP LDQPVDIGTS LIQDMKAYLE
661 GAGAEFCDIT LLLDGHPRPA HKAILAARSS YFEAMFRSFM PEDGQVNISI GEMVPSRQAF
721 ESMLRYIYYG EVNMPPEDSL YLFAAPYYYG FYNNRLQAYC KQNLEMNVTV QNVLQILEAA
781 DKTQALDMKR HCLHIIVHQF TKVSKLPTLR SLSQQLLLDI IDSLASHISD KQCAELGADILocalizationUniProt · AlphaFold · HPA
Whether an antibody against LZTR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 17 nTPM
- endometrium: 17 nTPM
- colon: 15 nTPM
- pituitary gland: 14 nTPM
- adipose tissue: 14 nTPM
- urinary bladder: 14 nTPM
Single-cell type
- proximal tubule cells: 23 nCPM
- bergmann glia: 22 nCPM
- astrocytes: 21 nCPM
- podocytes: 20 nCPM
- somatotrophs: 19 nCPM
- renal connecting tubule cells: 16 nCPM
Immune cell
- non-classical monocyte: 1 nTPM
- memory CD8 T-cell: 0.8 nTPM
- gdT-cell: 0.7 nTPM
- intermediate monocyte: 0.7 nTPM
- classical monocyte: 0.5 nTPM
- myeloid DC: 0.5 nTPM
Brain region
- pons: 23 nTPM
- midbrain: 21 nTPM
- cerebral cortex: 21 nTPM
- medulla oblongata: 20 nTPM
- white matter: 20 nTPM
- hypothalamus: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LZTR1.
Disease | AllUniProt
Conditions LZTR1 is implicated in, by any mechanism.
- Glioma (GLM) MIM:137800
- Schwannomatosis 2 (SWN2) MIM:615670
- Noonan syndrome 10 (NS10) MIM:616564
- Noonan syndrome 2 (NS2) MIM:605275
Disease | GeneticClinVar
799 pathogenic / likely-pathogenic of 4,639 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hereditary cancer-predisposing syndrome
- Cardiovascular phenotype
- LZTR1-related schwannomatosis
- Noonan syndrome 2
- Noonan syndrome 10
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.99
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.58
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LZTR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LZTR1 as an antibody target. Whether an autoantibody or antibody against LZTR1 could matter depends on whether native LZTR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LZTR1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LZTR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...