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Q8N653

- LZTR1_HUMAN

UniProt

Q8N653 - LZTR1_HUMAN

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
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (11 Apr 2003)
      Previous versions | rss
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    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

    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

    ArrayExpressiQ8N653.
    BgeeiQ8N653.
    CleanExiHS_LZTR1.
    GenevestigatoriQ8N653.

    Interactioni

    Protein-protein interaction databases

    BioGridi113852. 52 interactions.
    IntActiQ8N653. 2 interactions.
    STRINGi9606.ENSP00000215739.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N653.
    SMRiQ8N653. Positions 52-324, 358-423, 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.
    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

    MAGPGSTGGQ IGAAALAGGA RSKVAPSVDF DHSCSDSVEY LTLNFGPFET    50
    VHRWRRLPPC DEFVGARRSK HTVVAYKDAI YVFGGDNGKT MLNDLLRFDV 100
    KDCSWCRAFT TGTPPAPRYH HSAVVYGSSM FVFGGYTGDI YSNSNLKNKN 150
    DLFEYKFATG QWTEWKIEGR LPVARSAHGA TVYSDKLWIF AGYDGNARLN 200
    DMWTIGLQDR ELTCWEEVAQ SGEIPPSCCN FPVAVCRDKM FVFSGQSGAK 250
    ITNNLFQFEF KDKTWTRIPT EHLLRGSPPP PQRRYGHTMV AFDRHLYVFG 300
    GAADNTLPNE LHCYDVDFQT WEVVQPSSDS EVGGAEVPER ACASEEVPTL 350
    TYEERVGFKK SRDVFGLDFG TTSAKQPTQP ASELPSGRLF HAAAVISDAM 400
    YIFGGTVDNN IRSGEMYRFQ FSCYPKCTLH EDYGRLWESR QFCDVEFVLG 450
    EKEECVQGHV AIVTARSRWL RRKITQARER LAQKLEQEAA PVPREAPGVA 500
    AGGARPPLLH VAIREAEARP FEVLMQFLYT DKIKYPRKGH VEDVLLIMDV 550
    YKLALSFQLC RLEQLCRQYI EASVDLQNVL VVCESAARLQ LSQLKEHCLN 600
    FVVKESHFNQ VIMMKEFERL SSPLIVEIVR RKQQPPPRTP LDQPVDIGTS 650
    LIQDMKAYLE GAGAEFCDIT LLLDGHPRPA HKAILAARSS YFEAMFRSFM 700
    PEDGQVNISI GEMVPSRQAF ESMLRYIYYG EVNMPPEDSL YLFAAPYYYG 750
    FYNNRLQAYC KQNLEMNVTV QNVLQILEAA DKTQALDMKR HCLHIIVHQF 800
    TKVSKLPTLR SLSQQLLLDI IDSLASHISD KQCAELGADI 840
    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.
    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, 358-423, 664-787.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113852. 52 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 .
    GeneIDi 8216.
    KEGGi hsa:8216.
    UCSCi uc002ztn.3. human.

    Organism-specific databases

    CTDi 8216.
    GeneCardsi GC22P021339.
    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.
    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

    ArrayExpressi Q8N653.
    Bgeei Q8N653.
    CleanExi HS_LZTR1.
    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

    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 1, 2014
    This is version 106 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