LZTFL1

LZTFL1
Identifiers
AliasesLZTFL1, BBS17, leucine zipper transcription factor like 1
External IDsOMIM: 606568 MGI: 1934860 HomoloGene: 41368 GeneCards: LZTFL1
Orthologs
SpeciesHumanMouse
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 MbChr 9: 123.69 – 123.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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

Clinical significance

Mutations in the LZTFL1 gene are associated with Bardet-Biedl syndrome,[7] and the gene also acts as a tumor supressor[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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163818 - Ensembl, May 2017
  2. 1 2 3 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. ↑ "Mapping the human genetic architecture of COVID-19". Nature. July 2021. doi:10.1038/s41586-021-03767-x. 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: 1–10. doi:10.1038/s41588-021-00955-3.
  13. ↑ Zeberg, Hugo; Pääbo, Svante (30 September 2020). "The major genetic risk factor for severe COVID-19 is inherited from Neanderthals". Nature. 587: 610–612. doi:10.1038/s41586-020-2818-3. PMID 32998156. Retrieved 6 November 2021.
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