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Protein

Leucine-zipper-like transcriptional regulator 1

Gene

LZTR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable transcriptional regulator that may play a crucial role in embryogenesis.

GO - Molecular functioni

  • DNA-binding transcription factor activity Source: ProtInc

GO - Biological processi

Enzyme and pathway databases

SIGNORiQ8N653

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-zipper-like transcriptional regulator 1
Short name:
LZTR-1
Gene namesi
Name:LZTR1
Synonyms:TCFL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000099949.18
HGNCiHGNC:6742 LZTR1
MIMi600574 gene
neXtProtiNX_Q8N653

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Schwannomatosis 2 (SWNTS2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.
See also OMIM:615670
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071145122S → L in SWNTS2. 1 PublicationCorresponds to variant dbSNP:rs587777177EnsemblClinVar.1
Natural variantiVAR_071146404G → R in SWNTS2. 1 Publication1
Natural variantiVAR_071147456V → G in SWNTS2. 1 Publication1
Natural variantiVAR_071148466R → Q in SWNTS2. 1 PublicationCorresponds to variant dbSNP:rs587777180EnsemblClinVar.1
Natural variantiVAR_071149520P → L in SWNTS2. 1 Publication1
Natural variantiVAR_071150688R → C in SWNTS2. 1 PublicationCorresponds to variant dbSNP:rs587777178EnsemblClinVar.1
Natural variantiVAR_071151813S → I in SWNTS2. 1 Publication1
Noonan syndrome 10 (NS10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616564
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075657119Y → C in NS10. 1 Publication1
Natural variantiVAR_075658247S → N in NS10. 1 PublicationCorresponds to variant dbSNP:rs797045166EnsemblClinVar.1
Natural variantiVAR_075659248G → R in NS10. 1 PublicationCorresponds to variant dbSNP:rs869320686EnsemblClinVar.1
Natural variantiVAR_075660284R → C in NS10. 1 PublicationCorresponds to variant dbSNP:rs797045165EnsemblClinVar.1
Natural variantiVAR_075661287H → Y in NS10. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8216
MalaCardsiLZTR1
MIMi615670 phenotype
616564 phenotype
OpenTargetsiENSG00000099949
Orphaneti251579 Giant cell glioblastoma
251576 Gliosarcoma
93921 Neurofibromatosis type 3
648 Noonan syndrome
PharmGKBiPA30506

Polymorphism and mutation databases

BioMutaiLZTR1
DMDMi29839558

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001191352 – 840Leucine-zipper-like transcriptional regulator 1Add BLAST839

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8N653
MaxQBiQ8N653
PaxDbiQ8N653
PeptideAtlasiQ8N653
PRIDEiQ8N653
ProteomicsDBi72130

PTM databases

iPTMnetiQ8N653
PhosphoSitePlusiQ8N653

Expressioni

Developmental stagei

Expressed in fetal brain, heart, kidney, liver and lung.

Gene expression databases

BgeeiENSG00000099949 Expressed in 217 organ(s), highest expression level in adenohypophysis
CleanExiHS_LZTR1
ExpressionAtlasiQ8N653 baseline and differential
GenevisibleiQ8N653 HS

Organism-specific databases

HPAiHPA068772
HPA071248

Interactioni

Protein-protein interaction databases

BioGridi113852, 77 interactors
IntActiQ8N653, 3 interactors
STRINGi9606.ENSP00000215739

Structurei

3D structure databases

ProteinModelPortaliQ8N653
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati79 – 128Kelch 1Add BLAST50
Repeati130 – 185Kelch 2Add BLAST56
Repeati187 – 238Kelch 3Add BLAST52
Repeati239 – 285Kelch 4Add BLAST47
Repeati295 – 341Kelch 5Add BLAST47
Repeati399 – 450Kelch 6Add BLAST52
Domaini443 – 537BTB 1PROSITE-ProRule annotationAdd BLAST95
Domaini667 – 736BTB 2PROSITE-ProRule annotationAdd BLAST70

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IEDY Eukaryota
ENOG410Y2DF LUCA
GeneTreeiENSGT00760000119086
HOGENOMiHOG000007115
HOVERGENiHBG052380
InParanoidiQ8N653
OMAiQPFEVLM
OrthoDBiEOG091G02JQ
PhylomeDBiQ8N653
TreeFamiTF314081

Family and domain databases

Gene3Di2.120.10.80, 2 hits
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011498 Kelch_2
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 2 hits
PF01344 Kelch_1, 2 hits
PF07646 Kelch_2, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 2 hits
SM00612 Kelch, 4 hits
SUPFAMiSSF117281 SSF117281, 2 hits
SSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 10 potential isoforms that are computationally mapped.Show allAlign All

Q8N653-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGPGSTGGQ IGAAALAGGA RSKVAPSVDF DHSCSDSVEY LTLNFGPFET
60 70 80 90 100
VHRWRRLPPC DEFVGARRSK HTVVAYKDAI YVFGGDNGKT MLNDLLRFDV
110 120 130 140 150
KDCSWCRAFT TGTPPAPRYH HSAVVYGSSM FVFGGYTGDI YSNSNLKNKN
160 170 180 190 200
DLFEYKFATG QWTEWKIEGR LPVARSAHGA TVYSDKLWIF AGYDGNARLN
210 220 230 240 250
DMWTIGLQDR ELTCWEEVAQ SGEIPPSCCN FPVAVCRDKM FVFSGQSGAK
260 270 280 290 300
ITNNLFQFEF KDKTWTRIPT EHLLRGSPPP PQRRYGHTMV AFDRHLYVFG
310 320 330 340 350
GAADNTLPNE LHCYDVDFQT WEVVQPSSDS EVGGAEVPER ACASEEVPTL
360 370 380 390 400
TYEERVGFKK SRDVFGLDFG TTSAKQPTQP ASELPSGRLF HAAAVISDAM
410 420 430 440 450
YIFGGTVDNN IRSGEMYRFQ FSCYPKCTLH EDYGRLWESR QFCDVEFVLG
460 470 480 490 500
EKEECVQGHV AIVTARSRWL RRKITQARER LAQKLEQEAA PVPREAPGVA
510 520 530 540 550
AGGARPPLLH VAIREAEARP FEVLMQFLYT DKIKYPRKGH VEDVLLIMDV
560 570 580 590 600
YKLALSFQLC RLEQLCRQYI EASVDLQNVL VVCESAARLQ LSQLKEHCLN
610 620 630 640 650
FVVKESHFNQ VIMMKEFERL SSPLIVEIVR RKQQPPPRTP LDQPVDIGTS
660 670 680 690 700
LIQDMKAYLE GAGAEFCDIT LLLDGHPRPA HKAILAARSS YFEAMFRSFM
710 720 730 740 750
PEDGQVNISI GEMVPSRQAF ESMLRYIYYG EVNMPPEDSL YLFAAPYYYG
760 770 780 790 800
FYNNRLQAYC KQNLEMNVTV QNVLQILEAA DKTQALDMKR HCLHIIVHQF
810 820 830 840
TKVSKLPTLR SLSQQLLLDI IDSLASHISD KQCAELGADI
Length:840
Mass (Da):94,719
Last modified:April 11, 2003 - v2
Checksum:iAAF172940BAEA92B
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WB67F8WB67_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
117Annotation score:
H7BZQ9H7BZQ9_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
111Annotation score:
F8WCB6F8WCB6_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
101Annotation score:
H7C0X1H7C0X1_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
121Annotation score:
H7C305H7C305_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
54Annotation score:
F8WEQ8F8WEQ8_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
97Annotation score:
A0A2R8Y7K3A0A2R8Y7K3_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
187Annotation score:
A0A2R8YCD2A0A2R8YCD2_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
149Annotation score:
A0A2R8Y656A0A2R8Y656_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
48Annotation score:
A0A2R8Y4K9A0A2R8Y4K9_HUMAN
Leucine-zipper-like transcriptional...
LZTR1
45Annotation score:

Sequence cautioni

The sequence BAA07508 differs from that shown. Reason: Frameshift at positions 16, 69 and 222.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti498G → S in BAA07508 (PubMed:7633402).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075657119Y → C in NS10. 1 Publication1
Natural variantiVAR_071145122S → L in SWNTS2. 1 PublicationCorresponds to variant dbSNP:rs587777177EnsemblClinVar.1
Natural variantiVAR_075658247S → N in NS10. 1 PublicationCorresponds to variant dbSNP:rs797045166EnsemblClinVar.1
Natural variantiVAR_075659248G → R in NS10. 1 PublicationCorresponds to variant dbSNP:rs869320686EnsemblClinVar.1
Natural variantiVAR_075660284R → C in NS10. 1 PublicationCorresponds to variant dbSNP:rs797045165EnsemblClinVar.1
Natural variantiVAR_075661287H → Y in NS10. 1 Publication1
Natural variantiVAR_071146404G → R in SWNTS2. 1 Publication1
Natural variantiVAR_075662447F → L1 PublicationCorresponds to variant dbSNP:rs201016956Ensembl.1
Natural variantiVAR_071147456V → G in SWNTS2. 1 Publication1
Natural variantiVAR_071148466R → Q in SWNTS2. 1 PublicationCorresponds to variant dbSNP:rs587777180EnsemblClinVar.1
Natural variantiVAR_071149520P → L in SWNTS2. 1 Publication1
Natural variantiVAR_075663647I → V1 PublicationCorresponds to variant dbSNP:rs148916790Ensembl.1
Natural variantiVAR_071150688R → C in SWNTS2. 1 PublicationCorresponds to variant dbSNP:rs587777178EnsemblClinVar.1
Natural variantiVAR_071151813S → I in SWNTS2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CT841521 mRNA Translation: CAJ86451.1
CH471176 Genomic DNA Translation: EAX02923.1
BC026214 mRNA Translation: AAH26214.2
D38496 mRNA Translation: BAA07508.1 Frameshift.
CCDSiCCDS33606.1
PIRiI54388
RefSeqiNP_006758.2, NM_006767.3
UniGeneiHs.78788

Genome annotation databases

EnsembliENST00000215739; ENSP00000215739; ENSG00000099949
ENST00000646124; ENSP00000496779; ENSG00000099949
GeneIDi8216
KEGGihsa:8216
UCSCiuc002zto.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CT841521 mRNA Translation: CAJ86451.1
CH471176 Genomic DNA Translation: EAX02923.1
BC026214 mRNA Translation: AAH26214.2
D38496 mRNA Translation: BAA07508.1 Frameshift.
CCDSiCCDS33606.1
PIRiI54388
RefSeqiNP_006758.2, NM_006767.3
UniGeneiHs.78788

3D structure databases

ProteinModelPortaliQ8N653
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113852, 77 interactors
IntActiQ8N653, 3 interactors
STRINGi9606.ENSP00000215739

PTM databases

iPTMnetiQ8N653
PhosphoSitePlusiQ8N653

Polymorphism and mutation databases

BioMutaiLZTR1
DMDMi29839558

Proteomic databases

EPDiQ8N653
MaxQBiQ8N653
PaxDbiQ8N653
PeptideAtlasiQ8N653
PRIDEiQ8N653
ProteomicsDBi72130

Protocols and materials databases

DNASUi8216
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000215739; ENSP00000215739; ENSG00000099949
ENST00000646124; ENSP00000496779; ENSG00000099949
GeneIDi8216
KEGGihsa:8216
UCSCiuc002zto.4 human

Organism-specific databases

CTDi8216
DisGeNETi8216
EuPathDBiHostDB:ENSG00000099949.18
GeneCardsiLZTR1
HGNCiHGNC:6742 LZTR1
HPAiHPA068772
HPA071248
MalaCardsiLZTR1
MIMi600574 gene
615670 phenotype
616564 phenotype
neXtProtiNX_Q8N653
OpenTargetsiENSG00000099949
Orphaneti251579 Giant cell glioblastoma
251576 Gliosarcoma
93921 Neurofibromatosis type 3
648 Noonan syndrome
PharmGKBiPA30506
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEDY Eukaryota
ENOG410Y2DF LUCA
GeneTreeiENSGT00760000119086
HOGENOMiHOG000007115
HOVERGENiHBG052380
InParanoidiQ8N653
OMAiQPFEVLM
OrthoDBiEOG091G02JQ
PhylomeDBiQ8N653
TreeFamiTF314081

Enzyme and pathway databases

SIGNORiQ8N653

Miscellaneous databases

ChiTaRSiLZTR1 human
GeneWikiiLZTR1
GenomeRNAii8216
PROiPR:Q8N653
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099949 Expressed in 217 organ(s), highest expression level in adenohypophysis
CleanExiHS_LZTR1
ExpressionAtlasiQ8N653 baseline and differential
GenevisibleiQ8N653 HS

Family and domain databases

Gene3Di2.120.10.80, 2 hits
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011498 Kelch_2
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 2 hits
PF01344 Kelch_1, 2 hits
PF07646 Kelch_2, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 2 hits
SM00612 Kelch, 4 hits
SUPFAMiSSF117281 SSF117281, 2 hits
SSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLZTR1_HUMAN
AccessioniPrimary (citable) accession number: Q8N653
Secondary accession number(s): Q14776, Q20WK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: April 11, 2003
Last modified: November 7, 2018
This is version 140 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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