GenTIGS

Leucine zipper like post translational regulator 1 (LZTR1) Associated conditions: 1. Noonan syndrome 2. Congenital diaphragmatic hernia 3. Schwannomatosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_006767.4	NP_006758.2	NC_000022.11	(20982296..20999031)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 172 reference articles

Variant Information Leucine zipper like post translational regulator 1 (LZTR1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Leucine zipper like post translational regulator 1 (LZTR1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Leucine zipper like post translational regulator 1 (LZTR1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	19060904 29892012 32296183 35512704
2	Homo sapiens	IBA	is_active_in	Golgi apparatus	Component	-
3	Homo sapiens	IDA	located_in	Golgi apparatus	Component	16356934
4	Homo sapiens	IEA	located_in	Golgi apparatus	Component	-
5	Homo sapiens	IDA	located_in	endomembrane system	Component	30442762 30442766
6	Homo sapiens	IEA	located_in	endomembrane system	Component	-
7	Homo sapiens	IDA	involved_in	protein ubiquitination	Process	30442762 30442766
8	Homo sapiens	IEA	involved_in	protein ubiquitination	Process	-
9	Homo sapiens	IDA	enables	small GTPase binding	Function	30442762 30442766
10	Homo sapiens	IBA	part_of	Cul3-RING ubiquitin ligase complex	Component	-
11	Homo sapiens	IDA	part_of	Cul3-RING ubiquitin ligase complex	Component	30442762 30442766
12	Homo sapiens	IDA	involved_in	proteasome-mediated ubiquitin-dependent protein catabolic process	Process	30442766
13	Homo sapiens	IBA	involved_in	negative regulation of Ras protein signal transduction	Process	-
14	Homo sapiens	IDA	involved_in	negative regulation of Ras protein signal transduction	Process	30442762 30442766
15	Homo sapiens	IEA	involved_in	negative regulation of Ras protein signal transduction	Process	-
16	Homo sapiens	IEA	located_in	recycling endosome	Component	-
17	Homo sapiens	IBA	is_active_in	recycling endosome membrane	Component	-
18	Homo sapiens	IDA	located_in	recycling endosome membrane	Component	30442762
19	Homo sapiens	IDA	enables	ubiquitin-like ligase-substrate adaptor activity	Function	30442766