| Type | Description |
|---|---|
| Definition | leucine zipper like transcription regulator 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:31:00 | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. | 32575496 |
| 2021-01-16 15:53:00 | Providing more evidence on LZTR1 variants in Noonan syndrome patients. | 31825158 |
| 2020-10-03 12:54:00 | Oligo-astrocytoma in LZTR1-related Noonan syndrome. | 30664951 |
| 2020-07-18 12:31:00 | Parallel sequencing of 22q11.2 region in patients with bladder exstrophy-epispadias complex (BEEC) without 22q11.2 microduplication identified a novel variant in LZTR1 p.Ser698Phe that displayed altered concentration and mobility in live cells, suggesting LZTR1 as a candidate gene underlying the urogenital malformation. | 31044557 |
| 2020-03-14 12:34:00 | LZTR1 mutations are predicted to variably impair binding of these substrates to the multi-component ligase complex and their efficient ubiquitination and degradation, resulting in MAPK signaling upregulation. | 30481304 |
| Type | IDs |
|---|---|
| Synonymous | BTBD29, LZTR-1, NS10, NS2, SWNTS2 |
| Gene |
UniProtKB-ID:
LZTR1_HUMAN,
A0A384NL67_HUMAN
UniprotKB:
Q8N653,
A0A384NL67
UniParc:
UPI000013C695
EMBL:
BC026214,
GQ900956,
D38496,
CT841521,
CH471176
Ensembl:
ENSG00000099949
KO:
hsa:8216
|
| Nucleutide sequences |
EMBL-CDS:
CAJ86451.1,
EAX02923.1,
AAH26214.2,
BAA07508.1,
ADO22473.1
Ensembl_TRS:
ENST00000646124
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000496779
RefSeq:
NP_006758.2
|
| Others |
UniRef100:
UniRef100_Q8N653
UniRef90:
UniRef90_Q8N653
UniRef50:
UniRef50_Q8N653
UniGene:
Hs.78788
CCDS:
CCDS33606.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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