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Aliases for LZTFL1 Gene

Aliases for LZTFL1 Gene

  • Leucine Zipper Transcription Factor Like 1 2 3 5
  • Leucine Zipper Transcription Factor-Like Protein 1 3
  • Leucine Zipper Transcription Factor-Like 1 2
  • BBS17 3

External Ids for LZTFL1 Gene

Previous GeneCards Identifiers for LZTFL1 Gene

  • GC03M045106
  • GC03M045684
  • GC03M045826

Summaries for LZTFL1 Gene

Entrez Gene Summary for LZTFL1 Gene

  • 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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]

GeneCards Summary for LZTFL1 Gene

LZTFL1 (Leucine Zipper Transcription Factor Like 1) is a Protein Coding gene. Diseases associated with LZTFL1 include Bardet-Biedl Syndrome 17 and Bardet-Biedl Syndrome 12. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein complex binding.

UniProtKB/Swiss-Prot for LZTFL1 Gene

  • Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.

Additional gene information for LZTFL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LZTFL1 Gene

Genomics for LZTFL1 Gene

GeneHancer (GH) Regulatory Elements for LZTFL1 Gene

Promoters and enhancers for LZTFL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I045841 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 561 +74.1 74087 1.7 PKNOX1 ARNT ARID4B SIN3A IRF4 YY1 ZNF766 E2F8 FOS NFYC LZTFL1 SDHDP4 CCR9 CXCR6 LARS2 GC03P045849 PIR58059
GH03I045914 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.5 467 2.3 PKNOX1 SMAD1 BMI1 BATF IRF4 EGR1 ZNF207 ATF7 ETV6 FOS LZTFL1 FYCO1 CXCR6 ENSG00000201635
GH03I045864 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 14 +50.8 50777 1.7 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ATF7 ETV6 BCLAF1 CCR9 LZTFL1 FYCO1 EXOSC7 XCR1 GC03M045883 GC03P045849
GH03I045983 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -70.9 -70938 6.2 FOXA2 SIN3A DNMT3B ZNF48 RAD21 ZBTB40 RARA YY1 FOS THAP11 CXCR6 CCRL2 FYCO1 LZTFL1 CCR2 CCR5 CCR1 CCR3
GH03I045878 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 10.6 +35.8 35827 3.7 HDGF PKNOX1 ARNT TCF12 GATA2 ATF7 FOS RUNX3 JUNB NCOA1 LZTFL1 CXCR6 FYCO1 LOC102724297 GC03M045883 GC03P045849
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LZTFL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LZTFL1 gene promoter:

Genomic Locations for LZTFL1 Gene

Genomic Locations for LZTFL1 Gene
92,727 bases
Minus strand

Genomic View for LZTFL1 Gene

Genes around LZTFL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LZTFL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LZTFL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LZTFL1 Gene

Proteins for LZTFL1 Gene

  • Protein details for LZTFL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine zipper transcription factor-like protein 1
    Protein Accession:
    Secondary Accessions:
    • B3KSI9
    • B4E0K7
    • Q8TC61
    • Q9NQ56

    Protein attributes for LZTFL1 Gene

    299 amino acids
    Molecular mass:
    34592 Da
    Quaternary structure:
    • Self-associates. Interacts with BBS9; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.

    Alternative splice isoforms for LZTFL1 Gene


neXtProt entry for LZTFL1 Gene

Post-translational modifications for LZTFL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LZTFL1 Gene

Domains & Families for LZTFL1 Gene

Gene Families for LZTFL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LZTFL1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the LZTFL1 family.
  • Belongs to the LZTFL1 family.
genes like me logo Genes that share domains with LZTFL1: view

Function for LZTFL1 Gene

Molecular function for LZTFL1 Gene

UniProtKB/Swiss-Prot Function:
Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.

Phenotypes From GWAS Catalog for LZTFL1 Gene

Gene Ontology (GO) - Molecular Function for LZTFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22072986
GO:0032403 protein complex binding IDA 24550735
GO:0042802 identical protein binding IPI 22072986
genes like me logo Genes that share ontologies with LZTFL1: view
genes like me logo Genes that share phenotypes with LZTFL1: view

Human Phenotype Ontology for LZTFL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LZTFL1 Gene

MGI Knock Outs for LZTFL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LZTFL1 Gene

Localization for LZTFL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LZTFL1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LZTFL1 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LZTFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with LZTFL1: view

Pathways & Interactions for LZTFL1 Gene

genes like me logo Genes that share pathways with LZTFL1: view

Gene Ontology (GO) - Biological Process for LZTFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1903565 negative regulation of protein localization to cilium IMP 22072986
GO:1903568 negative regulation of protein localization to ciliary membrane IMP 22072986
genes like me logo Genes that share ontologies with LZTFL1: view

No data available for SIGNOR curated interactions for LZTFL1 Gene

Drugs & Compounds for LZTFL1 Gene

No Compound Related Data Available

Transcripts for LZTFL1 Gene

Unigene Clusters for LZTFL1 Gene

Leucine zipper transcription factor-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LZTFL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a ·
SP1: - - - - - - - -
SP2: - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - -
SP7: - - - - - - - -
SP8: -

ExUns: 16b

Relevant External Links for LZTFL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LZTFL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LZTFL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LZTFL1 Gene

This gene is overexpressed in Nasal epithelium (7.8) and Lymph node (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LZTFL1 Gene

Protein tissue co-expression partners for LZTFL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LZTFL1 Gene:


SOURCE GeneReport for Unigene cluster for LZTFL1 Gene:


mRNA Expression by UniProt/SwissProt for LZTFL1 Gene:

Tissue specificity: Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal muscle, thymus, spleen, small intestine, and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for LZTFL1 Gene

  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LZTFL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LZTFL1: view

No data available for mRNA differential expression in normal tissues for LZTFL1 Gene

Orthologs for LZTFL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LZTFL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LZTFL1 33 34
  • 99.67 (n)
(Canis familiaris)
Mammalia -- 34
  • 92 (a)
  • 88.52 (n)
-- 34
  • 78 (a)
(Bos Taurus)
Mammalia LZTFL1 33 34
  • 88.96 (n)
(Rattus norvegicus)
Mammalia Lztfl1 33
  • 87.18 (n)
(Mus musculus)
Mammalia Lztfl1 33 16 34
  • 86.85 (n)
(Ornithorhynchus anatinus)
Mammalia LZTFL1 34
  • 83 (a)
(Monodelphis domestica)
Mammalia LZTFL1 34
  • 82 (a)
(Gallus gallus)
Aves LZTFL1 33 34
  • 75.28 (n)
(Anolis carolinensis)
Reptilia LZTFL1 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lztfl1 33
  • 71.48 (n)
Str.3808 33
(Danio rerio)
Actinopterygii lztfl1 33 34
  • 66.78 (n)
wufb53f12 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10348 34
  • 53 (a)
Species where no ortholog for LZTFL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LZTFL1 Gene

Gene Tree for LZTFL1 (if available)
Gene Tree for LZTFL1 (if available)

Paralogs for LZTFL1 Gene

No data available for Paralogs for LZTFL1 Gene

Variants for LZTFL1 Gene

Sequence variations from dbSNP and Humsavar for LZTFL1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs431825171 pathogenic, Bardet-Biedl syndrome 17 45,833,100(-) GCTTTG/G coding_sequence_variant, frameshift, non_coding_transcript_variant
rs515726135 pathogenic, Bardet-Biedl syndrome, Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17 (BBS17) [MIM:615994] 45,835,653(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs515726136 pathogenic, Bardet-Biedl syndrome, Bardet-Biedl syndrome 17 45,827,459(-) C/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs547425913 uncertain-significance, Congenital cataract 45,918,040(-) T/C upstream_transcript_variant
rs7130 benign, Congenital cataract 45,918,023(-) A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LZTFL1 Gene

Variant ID Type Subtype PubMed ID
esv2462115 CNV insertion 19546169
nsv3796 CNV deletion 18451855
nsv3797 CNV insertion 18451855
nsv834678 CNV gain 17160897
nsv954477 CNV duplication 24416366
nsv979827 CNV duplication 23825009

Variation tolerance for LZTFL1 Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.20; 69.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LZTFL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LZTFL1 Gene

Disorders for LZTFL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LZTFL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Bardet-Biedl syndrome 17 (BBS17) [MIM:615994]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:22510444, ECO:0000269 PubMed:23692385}. Note=The disease is caused by mutations affecting the gene represented in this entry. Patients carrying LZTFL1 mutations manifest mesoaxial polydactyly, a clinical feature very uncommon for Bardet-Biedl syndrome (PubMed:22510444 and PubMed:23692385). Some patients manifest situs inversus (PubMed:22510444). {ECO:0000269 PubMed:22510444}.

Additional Disease Information for LZTFL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LZTFL1: view

No data available for Genatlas for LZTFL1 Gene

Publications for LZTFL1 Gene

  1. The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. (PMID: 11352561) Kiss H … Dumanski JP (Genomics 2001) 2 3 4 22 58
  2. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. (PMID: 22510444) Marion V … Dollfus H (Journal of medical genetics 2012) 2 3 4 58
  3. Tumor-suppressive functions of leucine zipper transcription factor-like 1. (PMID: 20233871) Wei Q … Liu ZP (Cancer research 2010) 3 4 22 58
  4. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. (PMID: 23692385) Schaefer E … Dollfus H (Clinical genetics 2014) 3 4 58
  5. A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. (PMID: 22072986) Seo S … Sheffield VC (PLoS genetics 2011) 3 4 58

Products for LZTFL1 Gene

Sources for LZTFL1 Gene

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