LZTFL1

GENERAL INFORMATION

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Gene name

LZTFL1

Gene description

Leucine zipper transcription factor-like 1

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression mainly in respiratory epithelia, fallopian tube, testis and epididymis.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA043466 , HPA048447
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

LZTFL1 (HGNC Symbol)

Synonyms

BBS17

Description

Leucine zipper transcription factor-like 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

3

Cytoband

p21.31

Chromosome location (bp)

45823316 - 45916042

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163818 (version 78.38)

Entrez gene

54585

UniProt

Q9NQ48 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NQ48

Antibodypedia

LZTFL1 antibodies


PROTEIN BROWSER

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ENST00000296135
 
ENST00000440576
 
ENST00000445698
 
ENST00000536047
 
ENST00000539217
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LZTFL1-001 ENSP00000296135
ENST00000296135
Q9NQ48
Show all »
Show » Show » 299 34.6 No 0
LZTFL1-008 ENSP00000412240
ENST00000445698
C9J0R9
Show all »
Show » 91 10.6 No 0
LZTFL1-010 ENSP00000416083
ENST00000440576
Show » 235 26.8 No 0
LZTFL1-201 ENSP00000439522
ENST00000536047
Q9NQ48
Show all »
Show » Show » 282 32.6 No 0
LZTFL1-202 ENSP00000441784
ENST00000539217
Q9NQ48
Show all »
Show » Show » 256 29.3 No 0