Version: 8.0.0
Date: Tue Jan 28 2025
LZTFL1
Homo sapiensHGNC:6741
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

LZTFL1

Species
Homo sapiens
Symbol
LZTFL1
Name
leucine zipper transcription factor like 1
Synonyms
  • BBS17
  • FLJ36386
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity. Involved in negative regulation of protein localization to ciliary membrane. Located in cytosol. Implicated in Bardet-Biedl syndrome 17.
RGD Description
This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21635
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusLztfl110 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusLztfl110 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laevislztfl1.L1 of 1YesYes          ☑ 
Xenopus tropicalislztfl15 of 9YesYes☑ ☐☐☑☑☐☑☑☐  
Danio reriolztfl110 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

No paralogs for the gene.

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Abnormal electroretinogram
Abnormal heart morphology
Abnormal oral cavity morphology
Abnormal speech pattern
Abnormality of the endocrine system
Abnormality of the gastrointestinal tract
Abnormality of the genitourinary system
Abnormality of the sense of smell
Aganglionic megacolon
Anosmia
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000003.12:g.45828501T>Cvariant
    SNP
    • missense variant
    NC_000003.12:g.45828515T>Cvariant
    SNP
    • missense variant
    NC_000003.12:g.45835570G>Avariant
    SNP
    • intron variant
    NC_000003.12:g.45835659C>Avariant
    SNP
    • missense variant
    NC_000003.12:g.45826321T>Avariant
    SNP
    • missense variant
    NC_000003.12:g.45827462G>Avariant
    SNP
    • splice region variant
    NC_000003.12:g.45901277G>Cvariant
    SNP
    • missense variant
    NC_000003.12:g.45901368G>Avariant
    SNP
    • missense variant
    NC_000003.12:g.45901417T>Cvariant
    SNP
    • missense variant
    NC_000003.12:g.45900828G>Tvariant
    SNP
    • missense variant
    Showing 1 - 10 of 168 rows
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    No data available

    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

    Transcript: Mode:

    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    50 interactor genes based on 83 annotations
    LZTFL1 molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    RNA
    		APEX1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28986522
    protein
    		BAP1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:35446349
    protein
    		BBS1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:26186194
    protein
    		BBS1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		BBS1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:27173435
    protein
    		BBS1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		BBS2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:26186194
    protein
    		BBS2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		BBS2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:27173435
    protein
    		BBS2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    Showing 1 - 10 of 83 rows
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    Genetic Interactions

    No data available