LZTFL1

LZTFL1
Identifiers
Aliases	LZTFL1, BBS17, leucine zipper transcription factor like 1
External IDs	OMIM: 606568 MGI: 1934860 HomoloGene: 41368 GeneCards: LZTFL1
Gene location (Human) Chr. Chromosome 3 (human) Band 3p21.31 Start 45,823,316 bp End 45,916,042 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 F4|9 74.36 cM Start 123,523,481 bp End 123,546,762 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell sperm Brodmann area 23 caput epididymis endothelial cell middle temporal gyrus Achilles tendon corpus epididymis metanephric glomerulus kidney tubule Top expressed in spermatid spermatocyte seminiferous tubule secondary oocyte olfactory epithelium thymus parotid gland belly cord vas deferens pineal gland More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding identical protein binding protein-containing complex binding Cellular component cytoplasm cytosol Biological process negative regulation of protein localization to cilium negative regulation of protein localization to ciliary membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54585 93730 Ensembl ENSG00000163818 ENSMUSG00000025245 UniProt Q9NQ48 Q9JHQ5 RefSeq (mRNA) NM_001276378 NM_001276379 NM_020347 NM_001386451 NM_001386452 NM_033322 RefSeq (protein) NP_001263307 NP_001263308 NP_065080 NP_201579 Location (UCSC) Chr 3: 45.82 – 45.92 Mb Chr 9: 123.52 – 123.55 Mb PubMed search
Wikidata
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Leucine zipper transcription factor like 1 also known as LZTFL1 is a ubiquitously expressed protein which localizes to the cytoplasm and in humans is encoded by the LZTFL1 gene.

Function

This protein regulates protein trafficking to the ciliary membrane through interaction with the Bardet-Biedl syndrome (BBS) complex of proteins.

Clinical significance

Mutations in the LZTFL1 gene are associated with Bardet-Biedl syndrome, and the gene also acts as a tumor suppressor through regulation of epithelial-mesenchymal transition.

Identified as the gene on chromosome 3 at location 3p21.31 responsible for mediating an associated with genetic susceptibility to SARS-CoV-2 infection and COVID-19 respiratory failure. The DNA segment conferring the risk is inherited from Neanderthals.