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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 1 2 3
  • 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 1. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. 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.

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

Genomics for LZTFL1 Gene

Regulatory Elements for LZTFL1 Gene

Enhancers for LZTFL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LZTFL1 on UCSC Golden Path with GeneCards custom track

Promoters for LZTFL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LZTFL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LZTFL1 Gene

Chromosome:
3
Start:
45,823,316 bp from pter
End:
45,916,042 bp from pter
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

Proteomics data for LZTFL1 Gene at MOPED

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

Protein Domains for LZTFL1 Gene

InterPro:
ProtoNet:

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.
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 Model Products

miRNA for LZTFL1 Gene

miRTarBase miRNAs that target LZTFL1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , 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
Jensen Localization Image for LZTFL1 Gene COMPARTMENTS Subcellular localization image for LZTFL1 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for LZTFL1 Gene

Pathways & Interactions for LZTFL1 Gene

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

Gene Ontology (GO) - Biological Process for LZTFL1 Gene

None

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:

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
ECgene alternative splicing isoforms for
LZTFL1

Expression for LZTFL1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for LZTFL1 Gene



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.
genes like me logo Genes that share expression patterns with LZTFL1: view

Protein tissue co-expression partners for LZTFL1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia LZTFL1 35
  • 88.96 (n)
  • 92.64 (a)
LZTFL1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LZTFL1 35
  • 88.52 (n)
  • 91.64 (a)
-- 36
  • 92 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Lztfl1 35
  • 86.85 (n)
  • 90.97 (a)
Lztfl1 16
Lztfl1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LZTFL1 35
  • 99.67 (n)
  • 99.33 (a)
LZTFL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lztfl1 35
  • 87.18 (n)
  • 92.31 (a)
oppossum
(Monodelphis domestica)
Mammalia LZTFL1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LZTFL1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves LZTFL1 35
  • 75.28 (n)
  • 81.21 (a)
LZTFL1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LZTFL1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lztfl1 35
  • 71.48 (n)
  • 75.17 (a)
Str.3808 35
zebrafish
(Danio rerio)
Actinopterygii lztfl1 35
  • 66.78 (n)
  • 69.59 (a)
wufb53f12 35
lztfl1 36
  • 69 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10348 36
  • 53 (a)
OneToOne
Species with no ortholog for LZTFL1:
  • 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

ENSEMBL:
Gene Tree for LZTFL1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs17855512 - 45,833,052(+) TACCT(C/T)GTTTA nc-transcript-variant, reference, missense
rs1129183 - 45,828,480(-) AGCAC(A/G)ATCTA nc-transcript-variant, reference, missense
rs17852322 - 45,828,464(+) GCTCC(C/T)GAACC nc-transcript-variant, reference, missense
VAR_070104 Bardet-Biedl syndrome 17 (BBS17)
rs1024626 -- 45,861,352(-) CTTCC(C/T)GGGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv876734 CNV Gain 21882294
nsv834678 CNV Gain 17160897
nsv3796 CNV Loss 18451855

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)

Relevant External Links for LZTFL1 Gene

HapMap Linkage Disequilibrium report
LZTFL1
Human Gene Mutation Database (HGMD)
LZTFL1

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

Disorders for LZTFL1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for LZTFL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 17
  • bbs17
bardet-biedl syndrome 1
  • bardet-biedl syndrome 1, modifier of
bardet-biedl syndrome
  • laurence-moon syndrome
lztfl1- related bardet-biedl syndrome
  • bardet-biedl syndrome 17
situs inversus
  • complete transposition
- 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}.

Relevant External Links for LZTFL1

Genetic Association Database (GAD)
LZTFL1
Human Genome Epidemiology (HuGE) Navigator
LZTFL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LZTFL1
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 J.P. (Genomics 2001) 2 3 4 23 67
  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. (J. Med. Genet. 2012) 2 3
  3. Tumor-suppressive functions of leucine zipper transcription factor-like 1. (PMID: 20233871) Wei Q. … Liu Z.P. (Cancer Res. 2010) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for LZTFL1 Gene

Sources for LZTFL1 Gene

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