Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8216
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine zipper like post translational regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LZTR1
Synonyms (NCBI Gene) Gene synonyms aliases
BTBD29, LZTR-1, NS10, NS2, SWNTS2
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21|22q11.1-q11.2
Summary Summary of gene provided in NCBI Entrez 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 exc
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140874089 G>A,C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs145594158 G>A Likely-pathogenic Splice donor variant
rs148677674 C>A,T Likely-pathogenic Coding sequence variant, missense variant
rs149850248 C>G,T Likely-pathogenic Coding sequence variant, stop gained, missense variant
rs150419186 C>A,G,T Pathogenic Coding sequence variant, synonymous variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046517 hsa-miR-15b-5p CLASH 23622248
MIRT046517 hsa-miR-15b-5p CLASH 23622248
MIRT037967 hsa-miR-505-5p CLASH 23622248
MIRT650834 hsa-miR-6736-3p HITS-CLIP 23824327
MIRT650833 hsa-miR-4267 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19060904, 29892012, 32296183, 35512704
GO:0005768 Component Endosome IEA
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IDA 16356934
GO:0005794 Component Golgi apparatus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600574 6742 ENSG00000099949
Protein
UniProt ID Q8N653
Protein name Leucine-zipper-like transcriptional regulator 1 (LZTR-1)
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13418 Kelch_4 67 116 Repeat
PF07646 Kelch_2 117 166 Kelch motif Repeat
PF01344 Kelch_1 227 270 Kelch motif Repeat
PF01344 Kelch_1 283 328 Kelch motif Repeat
PF00651 BTB 433 573 BTB/POZ domain Domain
PF00651 BTB 656 767 BTB/POZ domain Domain
Sequence
MAGPGSTGGQIGAAALAGGARSKVAPSVDFDHSCSDSVEYLTLNFGPFETVHRWRRLPPC
DEFVGARRSKHTVVAYKDAIYVFGGDNGKTMLNDLLRFDVKDCSWCRAFTTGTPPAPRYH
HSAVVYGSSMFVFGGYTGDIYSNSNLKNKNDLFEYKFATGQWTEWK
IEGRLPVARSAHGA
TVYSDKLWIFAGYDGNARLNDMWTIGLQDRELTCWEEVAQSGEIPPSCCNFPVAVCRDKM
FVFSGQSGAKITNNLFQFEFKDKTWTRIPT
EHLLRGSPPPPQRRYGHTMVAFDRHLYVFG
GAADNTLPNELHCYDVDFQTWEVVQPSS
DSEVGGAEVPERACASEEVPTLTYEERVGFKK
SRDVFGLDFGTTSAKQPTQPASELPSGRLFHAAAVISDAMYIFGGTVDNNIRSGEMYRFQ
FSCYPKCTLHEDYGRLWESRQFCDVEFVLGEKEECVQGHVAIVTARSRWLRRKITQARER
LAQKLEQEAAPVPREAPGVAAGGARPPLLHVAIREAEARPFEVLMQFLYTDKIKYPRKGH
VEDVLLIMDVYKLALSFQLCRLEQLCRQYIEAS
VDLQNVLVVCESAARLQLSQLKEHCLN
FVVKESHFNQVIMMKEFERLSSPLIVEIVRRKQQPPPRTPLDQPVDIGTSLIQDMKAYLE
GAGAEFCDITLLLDGHPRPAHKAILAARSSYFEAMFRSFMPEDGQVNISIGEMVPSRQAF
ESMLRYIYYGEVNMPPEDSLYLFAAPYYYGFYNNRLQAYCKQNLEMN
VTVQNVLQILEAA
DKTQALDMKRHCLHIIVHQFTKVSKLPTLRSLSQQLLLDIIDSLASHISDKQCAELGADI
Sequence length 840
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Noonan Syndrome noonan syndrome 2, Noonan syndrome and Noonan-related syndrome, noonan syndrome 1, noonan syndrome, noonan syndrome 10 rs587777179, rs1223430276, rs189150283, rs761685529, rs587777180, rs1249726034, rs1034395178, rs1194536394, rs587777613, rs150419186, rs1555928249, rs781431741, rs145594158, rs1601718760, rs869320686
View all (8 more)
N/A
Schwannomatosis schwannomatosis rs189150283, rs1555927561, rs587777180, rs1460026299, rs148031742, rs149850248 N/A
autism spectrum disorder Autism spectrum disorder rs780267761 N/A
Male infertility male infertility with azoospermia or oligozoospermia due to single gene mutation rs781431741 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acute Myeloid Leukemia Acute myeloid leukemia Reduced expression levels of LZTR1, NF1, TSC1, and TSC2 correlate with reduced sensitivity to sorafenib in samples from patients with acute myeloid leukemia and deficiency results in hyperactivation of MAPK or MTOR pathways in acute myeloid leukemia cells 33375770 CBGDA
Bladder Exstrophy bladder exstrophy N/A N/A ClinVar
Breast Cancer breast cancer N/A N/A GenCC
Congenital diaphragmatic hernia congenital diaphragmatic hernia N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 36304963
Adrenocortical Carcinoma Associate 36304963
Astrocytoma Associate 30664951
Autistic Disorder Associate 25961944
Bladder Exstrophy Associate 34355505, 36349425, 37509153
Bladder Exstrophy and Epispadias Complex Associate 37509153
Breast Neoplasms Associate 40724954
Carcinogenesis Associate 36304963, 37626065
Carcinoma Hepatocellular Associate 28622513, 36304963
Cardiomyopathy Dilated Associate 39577308