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LZTFL1

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Protein-coding gene in the species Homo sapiens

LZTFL1
Identifiers
AliasesLZTFL1, BBS17, leucine zipper transcription factor like 1
External IDsOMIM: 606568; MGI: 1934860; HomoloGene: 41368; GeneCards: LZTFL1; OMA:LZTFL1 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)
Chromosome 3 (human)Genomic location for LZTFL1Genomic location for LZTFL1
Band3p21.31Start45,823,316 bp
End45,916,042 bp
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)
Chromosome 9 (mouse)Genomic location for LZTFL1Genomic location for LZTFL1
Band9 F4|9 74.36 cMStart123,523,481 bp
End123,546,762 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bronchial epithelial cell

  • sperm

  • Brodmann area 23

  • caput epididymis

  • endothelial cell

  • Epithelium of choroid plexus

  • middle temporal gyrus

  • left testis

  • right testis

  • tendon of biceps brachii
Top expressed in
  • spermatid

  • spermatocyte

  • tail of embryo

  • genital tubercle

  • seminiferous tubule

  • zygote

  • secondary oocyte

  • olfactory epithelium

  • thymus

  • parotid gland
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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
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.

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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000163818 – Ensembl, May 2017
  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, 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.
  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, 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.
  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.
  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, 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.
  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.
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