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Q8N653

- LZTR1_HUMAN

UniProt

Q8N653 - LZTR1_HUMAN

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Protein

Leucine-zipper-like transcriptional regulator 1

Gene

LZTR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. regulation of transcription, DNA-templated Source: GOC
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:6742. LZTR1.

Pathology & Biotechi

Involvement in diseasei

Schwannomatosis 2 (SWNTS2) [MIM:615670]: A 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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti122 – 1221S → L in SWNTS2. 1 Publication
VAR_071145
Natural varianti404 – 4041G → R in SWNTS2. 1 Publication
VAR_071146
Natural varianti456 – 4561V → G in SWNTS2. 1 Publication
VAR_071147
Natural varianti466 – 4661R → Q in SWNTS2. 1 Publication
VAR_071148
Natural varianti520 – 5201P → L in SWNTS2. 1 Publication
VAR_071149
Natural varianti688 – 6881R → C in SWNTS2. 1 Publication
VAR_071150
Natural varianti813 – 8131S → I in SWNTS2. 1 Publication
VAR_071151

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615670. phenotype.
Orphaneti251579. Giant cell glioblastoma.
251576. Gliosarcoma.
93921. Neurofibromatosis type 3.
PharmGKBiPA30506.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 840839Leucine-zipper-like transcriptional regulator 1PRO_0000119135Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8N653.
PaxDbiQ8N653.
PRIDEiQ8N653.

PTM databases

PhosphoSiteiQ8N653.

Expressioni

Developmental stagei

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

Gene expression databases

BgeeiQ8N653.
CleanExiHS_LZTR1.
ExpressionAtlasiQ8N653. baseline and differential.
GenevestigatoriQ8N653.

Interactioni

Protein-protein interaction databases

BioGridi113852. 55 interactions.
IntActiQ8N653. 2 interactions.
STRINGi9606.ENSP00000215739.

Structurei

3D structure databases

ProteinModelPortaliQ8N653.
SMRiQ8N653. Positions 52-324, 664-787.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati79 – 12850Kelch 1Add
BLAST
Repeati130 – 18556Kelch 2Add
BLAST
Repeati187 – 23852Kelch 3Add
BLAST
Repeati239 – 28547Kelch 4Add
BLAST
Repeati295 – 34147Kelch 5Add
BLAST
Repeati399 – 45052Kelch 6Add
BLAST
Domaini443 – 53795BTB 1PROSITE-ProRule annotationAdd
BLAST
Domaini667 – 73670BTB 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation
Contains 6 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG145020.
GeneTreeiENSGT00760000119086.
HOGENOMiHOG000007115.
HOVERGENiHBG052380.
InParanoidiQ8N653.
OMAiGHPRPAH.
OrthoDBiEOG7JDQWZ.
PhylomeDBiQ8N653.
TreeFamiTF314081.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
3.30.710.10. 3 hits.
InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF00651. BTB. 2 hits.
PF01344. Kelch_1. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 4 hits.
PROSITEiPS50097. BTB. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

Sequence cautioni

The sequence BAA07508.1 differs from that shown. Reason: Frameshift at positions 16, 69 and 222.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti498 – 4981G → S in BAA07508. (PubMed:7633402)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti122 – 1221S → L in SWNTS2. 1 Publication
VAR_071145
Natural varianti404 – 4041G → R in SWNTS2. 1 Publication
VAR_071146
Natural varianti456 – 4561V → G in SWNTS2. 1 Publication
VAR_071147
Natural varianti466 – 4661R → Q in SWNTS2. 1 Publication
VAR_071148
Natural varianti520 – 5201P → L in SWNTS2. 1 Publication
VAR_071149
Natural varianti688 – 6881R → C in SWNTS2. 1 Publication
VAR_071150
Natural varianti813 – 8131S → I in SWNTS2. 1 Publication
VAR_071151

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
ENST00000389355; ENSP00000374006; ENSG00000099949.
GeneIDi8216.
KEGGihsa:8216.
UCSCiuc002ztn.3. human.

Polymorphism databases

DMDMi29839558.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
CT841521 mRNA. Translation: CAJ86451.1 .
CH471176 Genomic DNA. Translation: EAX02923.1 .
BC026214 mRNA. Translation: AAH26214.2 .
D38496 mRNA. Translation: BAA07508.1 . Frameshift.
CCDSi CCDS33606.1.
PIRi I54388.
RefSeqi NP_006758.2. NM_006767.3.
UniGenei Hs.78788.

3D structure databases

ProteinModelPortali Q8N653.
SMRi Q8N653. Positions 52-324, 664-787.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113852. 55 interactions.
IntActi Q8N653. 2 interactions.
STRINGi 9606.ENSP00000215739.

PTM databases

PhosphoSitei Q8N653.

Polymorphism databases

DMDMi 29839558.

Proteomic databases

MaxQBi Q8N653.
PaxDbi Q8N653.
PRIDEi Q8N653.

Protocols and materials databases

DNASUi 8216.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000215739 ; ENSP00000215739 ; ENSG00000099949 .
ENST00000389355 ; ENSP00000374006 ; ENSG00000099949 .
GeneIDi 8216.
KEGGi hsa:8216.
UCSCi uc002ztn.3. human.

Organism-specific databases

CTDi 8216.
GeneCardsi GC22P021450.
HGNCi HGNC:6742. LZTR1.
MIMi 600574. gene.
615670. phenotype.
neXtProti NX_Q8N653.
Orphaneti 251579. Giant cell glioblastoma.
251576. Gliosarcoma.
93921. Neurofibromatosis type 3.
PharmGKBi PA30506.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG145020.
GeneTreei ENSGT00760000119086.
HOGENOMi HOG000007115.
HOVERGENi HBG052380.
InParanoidi Q8N653.
OMAi GHPRPAH.
OrthoDBi EOG7JDQWZ.
PhylomeDBi Q8N653.
TreeFami TF314081.

Miscellaneous databases

ChiTaRSi LZTR1. human.
GeneWikii LZTR1.
GenomeRNAii 8216.
NextBioi 30937.
PROi Q8N653.
SOURCEi Search...

Gene expression databases

Bgeei Q8N653.
CleanExi HS_LZTR1.
ExpressionAtlasi Q8N653. baseline and differential.
Genevestigatori Q8N653.

Family and domain databases

Gene3Di 2.120.10.80. 2 hits.
3.30.710.10. 3 hits.
InterProi IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view ]
Pfami PF00651. BTB. 2 hits.
PF01344. Kelch_1. 1 hit.
[Graphical view ]
SMARTi SM00225. BTB. 2 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 4 hits.
PROSITEi PS50097. BTB. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Duodenal adenocarcinoma.
  4. "Isolation and characterization of a novel gene deleted in DiGeorge syndrome."
    Kurahashi H., Akagi K., Inazawa J., Ohta T., Niikawa N., Kayatani F., Sano T., Okada S., Nishisho I.
    Hum. Mol. Genet. 4:541-549(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-840.
    Tissue: Fetal brain.
  5. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  6. Cited for: VARIANTS SWNTS2 LEU-122; ARG-404; GLY-456; GLN-466; LEU-520; CYS-688 AND ILE-813.

Entry informationi

Entry nameiLZTR1_HUMAN
AccessioniPrimary (citable) accession number: Q8N653
Secondary accession number(s): Q14776, Q20WK0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: April 11, 2003
Last modified: October 29, 2014
This is version 107 of the entry and version 2 of the sequence. [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 chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3