LZTR1
entrez
8216
canonical
uniprot
Q8N653
canonical
ensembl
ENSG00000099949
resolver
ensp
ENSP00000496779
resolver
enst
ENST00000646124
resolver
genesymbol
LZTR1
resolver
genesymbol_syn
TCFL2
resolver
hgnc
HGNC:6742
resolver
uniprot
A0A384NL67
resolver
uniprot
Q14776
resolver
uniprot
Q20WK0
resolver
uniprot_entry
A0A384NL67_HUMAN
resolver
uniprot_entry
LZTR1_HUMAN
resolver
uniprot_sec
Q14776
resolver
uniprot_sec
Q20WK0
resolver
amino_acid_sequence
MAGPGSTGGQIGAAALAGGARSKVAPSVDFDHSCSDSVEYLTLNFGPFETVHRWRRLPPCDEFVGARRSKHTVVAYKDAIYVFGGDNGKTMLNDLLRFDVKDCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDIYSNSNLKNKNDLFEYKFATGQWTEWKIEGRLPVARSAHGATVYSDKLWIFAGYDGNARLNDMWTIGLQDRELTCWEEVAQSGEIPPSCCNFPVAVCRDKMFVFSGQSGAKITNNLFQFEFKDKTWTRIPTEHLLRGSPPPPQRRYGHTMVAFDRHLYVFGGAADNTLPNELHCYDVDFQTWEVVQPSSDSEVGGAEVPERACASEEVPTLTYEERVGFKKSRDVFGLDFGTTSAKQPTQPASELPSGRLFHAAAVISDAMYIFGGTVDNNIRSGEMYRFQFSCYPKCTLHEDYGRLWESRQFCDVEFVLGEKEECVQGHVAIVTARSRWLRRKITQARERLAQKLEQEAAPVPREAPGVAAGGARPPLLHVAIREAEARPFEVLMQFLYTDKIKYPRKGHVEDVLLIMDVYKLALSFQLCRLEQLCRQYIEASVDLQNVLVVCESAARLQLSQLKEHCLNFVVKESHFNQVIMMKEFERLSSPLIVEIVRRKQQPPPRTPLDQPVDIGTSLIQDMKAYLEGAGAEFCDITLLLDGHPRPAHKAILAARSSYFEAMFRSFMPEDGQVNISIGEMVPSRQAFESMLRYIYYGEVNMPPEDSLYLFAAPYYYGFYNNRLQAYCKQNLEMNVTVQNVLQILEAADKTQALDMKRHCLHIIVHQFTKVSKLPTLRSLSQQLLLDIIDSLASHISDKQCAELGADI
uniprot
proteins
disease_involvement
DISEASE: Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:30442766}. Note=The protein represented in this entry may be involved in disease pathogenesis.; DISEASE: Schwannomatosis 2 (SWN2) [MIM:615670]: A form of schwannomatosis, a tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. SWN2 affected individuals have multiple schwannomas in various areas of the body. SWN2 transmission pattern is consistent with autosomal dominant inheritance and incomplete penetrance. {ECO:0000269|PubMed:24362817, ECO:0000269|PubMed:25335493, ECO:0000269|PubMed:25480913, ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766, ECO:0000269|PubMed:30481304}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Noonan syndrome 10 (NS10) [MIM:616564]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant. {ECO:0000269|PubMed:25795793, ECO:0000269|PubMed:29959388, ECO:0000269|PubMed:30368668, ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766, ECO:0000269|PubMed:30481304}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Noonan syndrome 2 (NS2) [MIM:605275]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS2 inheritance is autosomal recessive. {ECO:0000269|PubMed:29469822, ECO:0000269|PubMed:30368668, ECO:0000269|PubMed:30481304}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras GTPases (M-Ras/MRAS, K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) and Ras-like protein RIT1 (PubMed:30442762, PubMed:30442766, PubMed:30481304, PubMed:40934300). Acts as a negative regulator of RAS-MAPK signaling by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304, PubMed:40934300). {ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766, ECO:0000269|PubMed:30481304, ECO:0000269|PubMed:40934300}.
uniprot
proteins
mass_dalton
94719
uniprot
proteins
mutagenesis
MUTAGEN 91; /note="M->V: Increased RAS-MAPK signaling."; /evidence="ECO:0000269|PubMed:30481304"; MUTAGEN 119; /note="Y->A: Abolishes interaction with RIT1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 143; /note="N->A: Abolishes interaction with RIT1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 193; /note="Y->H: Increased RAS-MAPK signaling."; /evidence="ECO:0000269|PubMed:30481304"; MUTAGEN 193; /note="Y->N: Increased RAS-MAPK signaling."; /evidence="ECO:0000269|PubMed:30481304"; MUTAGEN 230; /note="N->A: Abolishes interaction with RIT1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 281; /note="P->L: Abolishes interaction with RIT1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 283; /note="R->A: Abolishes interaction with RIT1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 412; /note="R->C: Abolishes interaction with RIT1."; /evidence="ECO:0000269|PubMed:40934300
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:30442762}.
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine upon induction of apoptosis, leading to its degradation by the proteasome. {ECO:0000269|PubMed:16356934}.
uniprot
proteins
protein_family
LZTR1 family
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16356934
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24362817
uniprot
proteins
pubmed
25335493
uniprot
proteins
pubmed
25480913
uniprot
proteins
pubmed
25795793
uniprot
proteins
pubmed
29469822
uniprot
proteins
pubmed
29959388
uniprot
proteins
pubmed
30368668
uniprot
proteins
pubmed
30442762
uniprot
proteins
pubmed
30442766
uniprot
proteins
pubmed
30481304
uniprot
proteins
pubmed
34626534
uniprot
proteins
pubmed
40934300
uniprot
proteins
pubmed
7633402
uniprot
proteins
sequence_length
840
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766}. Recycling endosome {ECO:0000269|PubMed:30442762}. Golgi apparatus {ECO:0000269|PubMed:16356934, ECO:0000269|PubMed:30481304, ECO:0000269|PubMed:34626534}.
uniprot
proteins