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)[1]
End	45,916,042 bp[1]
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)[2]
End	123,546,762 bp[2]
RNA expression pattern
	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
	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
	54585
	93730
	ENSG00000163818
	ENSMUSG00000025245
	Q9NQ48
	Q9JHQ5
	NM_001276378; NM_001276379; NM_020347; NM_001386451; NM_001386452
	NM_033322
	NP_001263307; NP_001263308; NP_065080
	NP_201579
	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

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 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

GRCh38: Ensembl release 89: ENSG00000163818 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000025245 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"LZTFL1 leucine zipper transcription factor like 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-17.
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.
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.
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.
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.
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.
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.
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.
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. Bibcode:2020Natur.587..610Z. doi:10.1038/s41586-020-2818-3. PMID 32998156. S2CID 222148977.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163818 - Ensembl, May 2017

[refGRCm38Ensembl-2] 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. Bibcode:2020Natur.587..610Z. doi:10.1038/s41586-020-2818-3. PMID 32998156. S2CID 222148977.