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)[1]

Band| 3p21.31| Start| 45,823,316 bp[1]
End| 45,916,042 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 9 (mouse)[2]

Band| 9 F4|9 74.36 cM| Start| 123,523,481 bp[2]
End| 123,546,762 bp[2]
| RNA expression pattern

Bgee| | 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

More reference expression data
BioGPS| | n/a

| Gene ontology

Molecular function|

* GO:0001948 protein binding
* identical protein binding
* GO:0032403 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| [3]| [4]
Wikidata
| View/Edit Human| View/Edit Mouse

|

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.[5]

## Function[edit]

This protein regulates protein trafficking to the ciliary membrane through interaction with the Bardet-Biedl syndrome (BBS) complex of proteins.[6]

## Clinical significance[edit]

Mutations in the LZTFL1 gene are associated with Bardet-Biedl syndrome,[7] and the gene also acts as a tumor suppressor[8] through regulation of epithelial-mesenchymal transition.[9]

Identified as the gene on chromosome 3 at location 3p21.31 responsible for mediating an associated with genetic susceptibility to SARS-CoV-2 infection[10] and COVID-19 respiratory failure.[11][12] The DNA segment conferring the risk is inherited from Neanderthals.[13]

## References[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163818 \- Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025245 \- Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "LZTFL1 leucine zipper transcription factor like 1 [Homo sapiens (human)] \- Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-17.
6. ^ Seo S, Zhang Q, Bugge K, Breslow DK, Searby CC, Nachury MV, Sheffield VC (November 2011). "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened". PLOS Genetics. 7 (11): e1002358. doi:10.1371/journal.pgen.1002358. PMC 3207910. PMID 22072986.
7. ^ Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, et al. (May 2012). "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". Journal of Medical Genetics. 49 (5): 317–321. doi:10.1136/jmedgenet-2012-100737. PMID 22510444. S2CID 33467850.
8. ^ Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, et al. (April 2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3". Genomics. 73 (1): 10–19. doi:10.1006/geno.2000.6498. PMID 11352561.
9. ^ Wei Q, Zhou W, Wang W, Gao B, Wang L, Cao J, Liu ZP (April 2010). "Tumor-suppressive functions of leucine zipper transcription factor-like 1". Cancer Research. 70 (7): 2942–2950. doi:10.1158/0008-5472.CAN-09-3826. PMC 2848875. PMID 20233871.
10. ^ Niemi, Mari E. K.; et al. (July 2021). "Mapping the human genetic architecture of COVID-19". Nature. 600 (7889): 472–477. doi:10.1038/s41586-021-03767-x. PMC 8674144. PMID 34237774. S2CID 235776838.
11. ^ Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, et al. (October 2020). "Genomewide Association Study of Severe Covid-19 with Respiratory Failure". The New England Journal of Medicine. 383 (16): 1522–1534. doi:10.1056/NEJMoa2020283. PMC 7315890. PMID 32558485.
12. ^ Downes DJ, Cross AR, Hua P, Roberts N, Schwessinger R, Cutler AJ, Munis AM, Brown J, Mielczarek O, de Andrea CE, Melero I (2021-11-04). "Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus". Nature Genetics. 53 (11): 1606–1615. doi:10.1038/s41588-021-00955-3. PMC 7611960. PMID 34737427.
13. ^ Zeberg, Hugo; Pääbo, Svante (30 September 2020). "The major genetic risk factor for severe COVID-19 is inherited from Neanderthals". Nature. 587 (7835): 610–612. doi:10.1038/s41586-020-2818-3. PMID 32998156. S2CID 222148977. Retrieved 6 November 2021.