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LZTFL1 (NM_020347) - leucine zipper transcription factor like 1

Leucine Zipper Transcription Factor-Like Protein 1 Isoform 1

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of LZTFL1 protein. View all 3 isoforms
LZTFL1: leucine zipper transcription factor-like protein 1 isoform 1
Description:

This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013].

Strand
-
Chromosome
3
Protein
299 residues
All mutations
44
PTM sites
13
CDS
45,867,805 - 45,883,483
Transcription
45,864,809 - 45,883,650
6.35% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 54585
UniProt
Ensembl