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Protein

Leucine zipper transcription factor-like protein 1

Gene

LZTFL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.3 Publications

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein-containing complex binding Source: UniProtKB

GO - Biological processi

  • negative regulation of protein localization to ciliary membrane Source: GO_Central
  • negative regulation of protein localization to cilium Source: GO_Central

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine zipper transcription factor-like protein 1
Gene namesi
Name:LZTFL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163818.16
HGNCiHGNC:6741 LZTFL1
MIMi606568 gene
neXtProtiNX_Q9NQ48

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 17 (BBS17)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Patients carrying LZTFL1 mutations manifest mesoaxial polydactyly, a clinical feature very uncommon for Bardet-Biedl syndrome (PubMed:22510444 and PubMed:23692385). Some patients manifest situs inversus (PubMed:22510444).1 Publication
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:615994
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07010487L → P in BBS17. 1 PublicationCorresponds to variant dbSNP:rs515726135EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi24 – 25KR → AS: Increases BBS4, BBS8 and BBS9 ciliary localization. 1 Publication2

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Obesity

Organism-specific databases

DisGeNETi54585
MalaCardsiLZTFL1
MIMi615994 phenotype
OpenTargetsiENSG00000163818
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA30505

Polymorphism and mutation databases

DMDMi74734310

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003187571 – 299Leucine zipper transcription factor-like protein 1Add BLAST299

Proteomic databases

EPDiQ9NQ48
MaxQBiQ9NQ48
PaxDbiQ9NQ48
PeptideAtlasiQ9NQ48
PRIDEiQ9NQ48

2D gel databases

REPRODUCTION-2DPAGEiIPI00478250

PTM databases

iPTMnetiQ9NQ48
PhosphoSitePlusiQ9NQ48

Expressioni

Tissue specificityi

Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal muscle, thymus, spleen, small intestine, and peripheral blood leukocytes.2 Publications

Developmental stagei

Expressed in brain, lung, liver, and kidney.1 Publication

Gene expression databases

BgeeiENSG00000163818
CleanExiHS_LZTFL1
ExpressionAtlasiQ9NQ48 baseline and differential
GenevisibleiQ9NQ48 HS

Organism-specific databases

HPAiHPA043466
HPA048447

Interactioni

Subunit structurei

Self-associates. Interacts with BBS9; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi120062, 31 interactors
IntActiQ9NQ48, 18 interactors
STRINGi9606.ENSP00000296135

Structurei

3D structure databases

ProteinModelPortaliQ9NQ48
SMRiQ9NQ48
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni145 – 299Interaction with BSS9Add BLAST155

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili96 – 296Sequence analysisAdd BLAST201

Sequence similaritiesi

Belongs to the LZTFL1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGWZ Eukaryota
ENOG410ZUNH LUCA
GeneTreeiENSGT00390000016415
HOGENOMiHOG000067838
HOVERGENiHBG054284
InParanoidiQ9NQ48
KOiK19400
OMAiMQDAMND
OrthoDBiEOG091G0N7U
PhylomeDBiQ9NQ48
TreeFamiTF329023

Family and domain databases

InterProiView protein in InterPro
IPR026157 LZTFL1
PANTHERiPTHR21635 PTHR21635, 1 hit
PfamiView protein in Pfam
PF15294 Leu_zip, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NQ48-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAELGLNEHH QNEVINYMRF ARSKRGLRLK TVDSCFQDLK ESRLVEDTFT
60 70 80 90 100
IDEVSEVLNG LQAVVHSEVE SELINTAYTN VLLLRQLFAQ AEKWYLKLQT
110 120 130 140 150
DISELENREL LEQVAEFEKA EITSSNKKPI LDVTKPKLAP LNEGGTAELL
160 170 180 190 200
NKEILRLQEE NEKLKSRLKT IEIQATNALD EKSKLEKALQ DLQLDQGNQK
210 220 230 240 250
DFIKAQDLSN LENTVAALKS EFQKTLNDKT ENQKSLEENL ATAKHDLLRV
260 270 280 290
QEQLHMAEKE LEKKFQQTAA YRNMKEILTK KNDQIKDLRK RLAQYEPED
Length:299
Mass (Da):34,592
Last modified:October 1, 2000 - v1
Checksum:iDCCD59AB98ED2C8A
GO
Isoform 2 (identifier: Q9NQ48-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.

Show »
Length:282
Mass (Da):32,599
Checksum:i93484845102E01AB
GO
Isoform 3 (identifier: Q9NQ48-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: MAELGLNEHH...SCFQDLKESR → MRNQDPGKMG...SWAKFQEKAL
     260-299: ELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED → I

Show »
Length:256
Mass (Da):29,332
Checksum:i6A4C0DBFF9E07403
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti108R → Q in AAH25988 (PubMed:15489334).Curated1
Sequence conflicti224K → R in BAG64469 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07010487L → P in BBS17. 1 PublicationCorresponds to variant dbSNP:rs515726135EnsemblClinVar.1
Natural variantiVAR_038877152K → E1 PublicationCorresponds to variant dbSNP:rs17855512Ensembl.1
Natural variantiVAR_038878246D → N1 PublicationCorresponds to variant dbSNP:rs1129183Ensembl.1
Natural variantiVAR_038879251Q → R1 PublicationCorresponds to variant dbSNP:rs17852322Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0534281 – 43MAELG…LKESR → MRNQDPGKMGRQRKSIKLYP THPLVTFPRSWAKFQEKAL in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0534291 – 17Missing in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_053430260 – 299ELEKK…YEPED → I in isoform 3. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ289880 Genomic DNA Translation: CAB96873.1
AJ297351 mRNA Translation: CAB95836.1
BX640604 mRNA Translation: CAE45710.1
AK093705 mRNA Translation: BAG52751.1
AK303416 mRNA Translation: BAG64469.1
AC098476 Genomic DNA No translation available.
AC099782 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64749.1
CH471055 Genomic DNA Translation: EAW64750.1
BC025988 mRNA Translation: AAH25988.1
BC042483 mRNA Translation: AAH42483.1
CCDSiCCDS2731.1 [Q9NQ48-1]
CCDS63608.1 [Q9NQ48-2]
CCDS63609.1 [Q9NQ48-3]
RefSeqiNP_001263307.1, NM_001276378.1 [Q9NQ48-2]
NP_001263308.1, NM_001276379.1 [Q9NQ48-3]
NP_065080.1, NM_020347.3 [Q9NQ48-1]
XP_011532140.1, XM_011533838.2 [Q9NQ48-2]
XP_016862133.1, XM_017006644.1 [Q9NQ48-2]
UniGeneiHs.30824

Genome annotation databases

EnsembliENST00000296135; ENSP00000296135; ENSG00000163818 [Q9NQ48-1]
ENST00000536047; ENSP00000439522; ENSG00000163818 [Q9NQ48-2]
ENST00000539217; ENSP00000441784; ENSG00000163818 [Q9NQ48-3]
GeneIDi54585
KEGGihsa:54585
UCSCiuc003cox.3 human [Q9NQ48-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLZTL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NQ48
Secondary accession number(s): B3KSI9
, B4E0K7, Q8TC61, Q9NQ56
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: October 1, 2000
Last modified: May 23, 2018
This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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