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 polydactyl... See more...

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 4
  • BBS17 2 3
  • Leucine Zipper Transcription Factor-Like 1 2
  • LZTFL1 5

External Ids for LZTFL1 Gene

Previous GeneCards Identifiers for LZTFL1 Gene

  • GC03M045106
  • GC03M045684
  • GC03M045826
  • GC03M045840

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 1. 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.

UniProtKB/Swiss-Prot Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LZTFL1 Gene

Genomics for LZTFL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LZTFL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LZTFL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LZTFL1

Top Transcription factor binding sites by QIAGEN in the LZTFL1 gene promoter:
  • AML1a
  • E47
  • HNF-3beta
  • Lhx3a
  • LHX3b
  • NF-kappaB
  • NF-kappaB1
  • POU3F2
  • Tal-1

Genomic Locations for LZTFL1 Gene

Genomic Locations for LZTFL1 Gene
chr3:45,823,316-45,916,042
(GRCh38/hg38)
Size:
92,727 bases
Orientation:
Minus strand
chr3:45,864,808-45,957,534
(GRCh37/hg19)
Size:
92,727 bases
Orientation:
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:
    Q9NQ48-LZTL1_HUMAN
    Recommended name:
    Leucine zipper transcription factor-like protein 1
    Protein Accession:
    Q9NQ48
    Secondary Accessions:
    • B3KSI9
    • B4E0K7
    • Q8TC61
    • Q9NQ56

    Protein attributes for LZTFL1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LZTFL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36386 fis, clone THYMU2008781, highly similar to Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA (B3KSI9_HUMAN)
  • Leucine zipper transcription factor-like protein 1 (LZTL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQ48

UniProtKB/Swiss-Prot:

LZTL1_HUMAN :
  • Belongs to the LZTFL1 family.
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:0042802 identical protein binding IPI 22072986
GO:0044877 protein-containing complex binding IDA 24550735
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:
  • Lztfl1 Lztfl1<tm1e(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LZTFL1

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1
peroxisome 0

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,IBA 21873635
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

mRNA/cDNA for LZTFL1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LZTFL1

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: -
SP9:

ExUns: 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for LZTFL1 Gene

GeneLoc Exon Structure for
LZTFL1

Expression for LZTFL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for LZTFL1 Gene



Protein tissue co-expression partners for LZTFL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LZTFL1

SOURCE GeneReport for Unigene cluster for LZTFL1 Gene:

Hs.30824

mRNA Expression by UniProt/SwissProt for LZTFL1 Gene:

Q9NQ48-LZTL1_HUMAN
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(3.3)
  • Eye(2.2)
  • Kidney(2.1)
  • Liver(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia LZTFL1 30 31
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 92 (a)
OneToMany
LZTFL1 30
  • 88.52 (n)
-- 31
  • 78 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia LZTFL1 30 31
  • 88.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lztfl1 30
  • 87.18 (n)
Mouse
(Mus musculus)
Mammalia Lztfl1 30 17 31
  • 86.85 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LZTFL1 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LZTFL1 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LZTFL1 30 31
  • 75.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LZTFL1 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lztfl1 30
  • 71.48 (n)
Str.3808 30
Zebrafish
(Danio rerio)
Actinopterygii lztfl1 30 31
  • 66.78 (n)
OneToOne
wufb53f12 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10348 31
  • 53 (a)
OneToOne
Species where no ortholog for LZTFL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for LZTFL1 (if available)
TreeFam:
Gene Tree for LZTFL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LZTFL1: view image

Paralogs for LZTFL1 Gene

No data available for Paralogs for LZTFL1 Gene

Variants for LZTFL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LZTFL1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
733625 Likely Benign: not provided 45,828,531(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
737191 Likely Benign: not provided 45,833,092(-) A/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
741647 Likely Benign: not provided 45,833,086(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
748632 Likely Benign: not provided 45,831,064(-) C/G INTRON_VARIANT
778069 Benign: not provided 45,834,246(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for LZTFL1 Gene

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)
LZTFL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LZTFL1

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

Disorders for LZTFL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bardet-biedl syndrome 17
  • bbs17
bardet-biedl syndrome 1
  • bbs1
bardet-biedl syndrome
  • biedl-bardet syndrome
situs inversus
  • situs inversus viscerum
bardet-biedl syndrome 19
  • bbs19
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LZTL1_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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
  3. Tumor-suppressive functions of leucine zipper transcription factor-like 1. (PMID: 20233871) Wei Q … Liu ZP (Cancer research 2010) 3 4 23
  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
  5. A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. (PMID: 22072986) Seo S … Sheffield VC (PLoS genetics 2011) 3 4

Products for LZTFL1 Gene

  • Signalway Proteins for LZTFL1

Sources for LZTFL1 Gene