Wikipedia

LZTFL1

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]

LZTFL1
Identifiers
AliasesLZTFL1, BBS17, leucine zipper transcription factor like 1
External IDsOMIM: 606568; MGI: 1934860; HomoloGene: 41368; GeneCards: LZTFL1; OMA:LZTFL1 - orthologs
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: 123.52 – 123.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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

Clinical significance

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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

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  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, et al. (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 33467850.317-321&rft.date=2012-05&rft_id=https://api.semanticscholar.org/CorpusID:33467850#id-name=S2CID&rft_id=info:pmid/22510444&rft_id=info:doi/10.1136/jmedgenet-2012-100737&rft.aulast=Marion&rft.aufirst=V&rft.au=Stutzmann, F&rft.au=Gérard, M&rft.au=De Melo, C&rft.au=Schaefer, E&rft.au=Claussmann, A&rft.au=Hellé, S&rft.au=Delague, V&rft.au=Souied, E&rft.au=Barrey, C&rft.au=Verloes, A&rft.au=Stoetzel, C&rft.au=Dollfus, H&rfr_id=info:sid/en.wikipedia.org:LZTFL1" class="Z3988">
  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 11352561.10-19&rft.date=2001-04&rft_id=info:doi/10.1006/geno.2000.6498&rft_id=info:pmid/11352561&rft.aulast=Kiss&rft.aufirst=H&rft.au=Kedra, D&rft.au=Kiss, C&rft.au=Kost-Alimova, M&rft.au=Yang, Y&rft.au=Klein, G&rft.au=Imreh, S&rft.au=Dumanski, JP&rfr_id=info:sid/en.wikipedia.org:LZTFL1" class="Z3988">
  9. ^ Wei Q, Zhou W, Wang W, Gao B, Wang L, Cao J, et al. (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 20233871.2942-2950&rft.date=2010-04&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848875#id-name=PMC&rft_id=info:pmid/20233871&rft_id=info:doi/10.1158/0008-5472.CAN-09-3826&rft.aulast=Wei&rft.aufirst=Q&rft.au=Zhou, W&rft.au=Wang, W&rft.au=Gao, B&rft.au=Wang, L&rft.au=Cao, J&rft.au=Liu, ZP&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848875&rfr_id=info:sid/en.wikipedia.org:LZTFL1" class="Z3988">
  10. ^ Niemi ME, Karjalainen J, Liao RG, Neale BM, Daly M, Ganna A, et al. (July 2021). "Mapping the human genetic architecture of COVID-19". Nature. 600 (7889): 472–477. Bibcode:2021Natur.600..472C. doi:10.1038/s41586-021-03767-x. PMC 8674144. PMID 34237774. S2CID 235776838.472-477&rft.date=2021-07&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674144#id-name=PMC&rft_id=https://api.semanticscholar.org/CorpusID:235776838#id-name=S2CID&rft_id=info:bibcode/2021Natur.600..472C&rft_id=info:pmid/34237774&rft_id=info:doi/10.1038/s41586-021-03767-x&rft.aulast=Niemi&rft.aufirst=ME&rft.au=Karjalainen, J&rft.au=Liao, RG&rft.au=Neale, BM&rft.au=Daly, M&rft.au=Ganna, A&rft.au=Pathak, GA&rft.au=Andrews, SJ&rft.au=Kanai, M&rft.au=Veerapen, K&rft.au=Fernandez-Cadenas, I&rft.au=Schulte, EC&rft.au=Striano, P&rft.au=Marttila, M&rft.au=Minica, C&rft.au=Marouli, E&rft.au=Karim, MA&rft.au=Wendt, FR&rft.au=Savage, J&rft.au=Sloofman, L&rft.au=Butler-Laporte, G&rft.au=Kim, HN&rft.au=Kanoni, S&rft.au=Okada, Y&rft.au=Byun, J&rft.au=Han, Y&rft.au=Uddin, MJ&rft.au=Smith, GD&rft.au=Willer, CJ&rft.au=Buxbaum, JD&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674144&rfr_id=info:sid/en.wikipedia.org:LZTFL1" class="Z3988">
  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 32558485.1522-1534&rft.date=2020-10&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315890#id-name=PMC&rft_id=info:pmid/32558485&rft_id=info:doi/10.1056/NEJMoa2020283&rft.aulast=Ellinghaus&rft.aufirst=D&rft.au=Degenhardt, F&rft.au=Bujanda, L&rft.au=Buti, M&rft.au=Albillos, A&rft.au=Invernizzi, P&rft.au=Fernández, J&rft.au=Prati, D&rft.au=Baselli, G&rft.au=Asselta, R&rft.au=Grimsrud, MM&rft.au=Milani, C&rft.au=Aziz, F&rft.au=Kässens, J&rft.au=May, S&rft.au=Wendorff, M&rft.au=Wienbrandt, L&rft.au=Uellendahl-Werth, F&rft.au=Zheng, T&rft.au=Yi, X&rft.au=de Pablo, R&rft.au=Chercoles, AG&rft.au=Palom, A&rft.au=Garcia-Fernandez, AE&rft.au=Rodriguez-Frias, F&rft.au=Zanella, A&rft.au=Bandera, A&rft.au=Protti, A&rft.au=Aghemo, A&rft.au=Lleo, A&rft.au=Biondi, A&rft.au=Caballero-Garralda, A&rft.au=Gori, A&rft.au=Tanck, A&rft.au=Carreras Nolla, A&rft.au=Latiano, A&rft.au=Fracanzani, AL&rft.au=Peschuck, A&rft.au=Julià, A&rft.au=Pesenti, A&rft.au=Voza, A&rft.au=Jiménez, D&rft.au=Mateos, B&rft.au=Nafria Jimenez, B&rft.au=Quereda, C&rft.au=Paccapelo, C&rft.au=Gassner, C&rft.au=Angelini, C&rft.au=Cea, C&rft.au=Solier, A&rft.au=Pestaña, D&rft.au=Muñiz-Diaz, E&rft.au=Sandoval, E&rft.au=Paraboschi, EM&rft.au=Navas, E&rft.au=García Sánchez, F&rft.au=Ceriotti, F&rft.au=Martinelli-Boneschi, F&rft.au=Peyvandi, F&rft.au=Blasi, F&rft.au=Téllez, L&rft.au=Blanco-Grau, A&rft.au=Hemmrich-Stanisak, G&rft.au=Grasselli, G&rft.au=Costantino, G&rft.au=Cardamone, G&rft.au=Foti, G&rft.au=Aneli, S&rft.au=Kurihara, H&rft.au=ElAbd, H&rft.au=My, I&rft.au=Galván-Femenia, I&rft.au=Martín, J&rft.au=Erdmann, J&rft.au=Ferrusquía-Acosta, J&rft.au=Garcia-Etxebarria, K&rft.au=Izquierdo-Sanchez, L&rft.au=Bettini, LR&rft.au=Sumoy, L&rft.au=Terranova, L&rft.au=Moreira, L&rft.au=Santoro, L&rft.au=Scudeller, L&rft.au=Mesonero, F&rft.au=Roade, L&rft.au=Rühlemann, MC&rft.au=Schaefer, M&rft.au=Carrabba, M&rft.au=Riveiro-Barciela, M&rft.au=Figuera Basso, ME&rft.au=Valsecchi, MG&rft.au=Hernandez-Tejero, M&rft.au=Acosta-Herrera, M&rft.au=D'Angiò, M&rft.au=Baldini, M&rft.au=Cazzaniga, M&rft.au=Schulzky, M&rft.au=Cecconi, M&rft.au=Wittig, M&rft.au=Ciccarelli, M&rft.au=Rodríguez-Gandía, M&rft.au=Bocciolone, M&rft.au=Miozzo, M&rft.au=Montano, N&rft.au=Braun, N&rft.au=Sacchi, N&rft.au=Martínez, N&rft.au=Özer, O&rft.au=Palmieri, O&rft.au=Faverio, P&rft.au=Preatoni, P&rft.au=Bonfanti, P&rft.au=Omodei, P&rft.au=Tentorio, P&rft.au=Castro, P&rft.au=Rodrigues, PM&rft.au=Blandino Ortiz, A&rft.au=de Cid, R&rft.au=Ferrer, R&rft.au=Gualtierotti, R&rft.au=Nieto, R&rft.au=Goerg, S&rft.au=Badalamenti, S&rft.au=Marsal, S&rft.au=Matullo, G&rft.au=Pelusi, S&rft.au=Juzenas, S&rft.au=Aliberti, S&rft.au=Monzani, V&rft.au=Moreno, V&rft.au=Wesse, T&rft.au=Lenz, TL&rft.au=Pumarola, T&rft.au=Rimoldi, V&rft.au=Bosari, S&rft.au=Albrecht, W&rft.au=Peter, W&rft.au=Romero-Gómez, M&rft.au=D'Amato, M&rft.au=Duga, S&rft.au=Banales, JM&rft.au=Hov, JR&rft.au=Folseraas, T&rft.au=Valenti, L&rft.au=Franke, A&rft.au=Karlsen, TH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315890&rfr_id=info:sid/en.wikipedia.org:LZTFL1" class="Z3988">
  12. ^ Downes DJ, Cross AR, Hua P, Roberts N, Schwessinger R, Cutler AJ, et al. (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 34737427.1606-1615&rft.date=2021-11-04&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611960#id-name=PMC&rft_id=info:pmid/34737427&rft_id=info:doi/10.1038/s41588-021-00955-3&rft.aulast=Downes&rft.aufirst=DJ&rft.au=Cross, AR&rft.au=Hua, P&rft.au=Roberts, N&rft.au=Schwessinger, R&rft.au=Cutler, AJ&rft.au=Munis, AM&rft.au=Brown, J&rft.au=Mielczarek, O&rft.au=de Andrea, CE&rft.au=Melero, I&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611960&rfr_id=info:sid/en.wikipedia.org:LZTFL1" class="Z3988">
  13. ^ Zeberg H, Pääbo S (November 2020). "The major genetic risk factor for severe COVID-19 is inherited from Neanderthals". Nature. 587 (7835): 610–612. Bibcode:2020Natur.587..610Z. doi:10.1038/s41586-020-2818-3. hdl:21.11116/0000-0007-0F26-F. PMID 32998156. S2CID 222148977.610-612&rft.date=2020-11&rft_id=info:hdl/21.11116/0000-0007-0F26-F&rft_id=https://api.semanticscholar.org/CorpusID:222148977#id-name=S2CID&rft_id=info:bibcode/2020Natur.587..610Z&rft_id=info:pmid/32998156&rft_id=info:doi/10.1038/s41586-020-2818-3&rft.aulast=Zeberg&rft.aufirst=H&rft.au=Pääbo, S&rft_id=https://doi.org/10.1038%2Fs41586-020-2818-3&rfr_id=info:sid/en.wikipedia.org:LZTFL1" class="Z3988">
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