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Entry version 139 (12 Aug 2020)
Sequence version 1 (01 Oct 2000)
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Protein

Leucine zipper transcription factor-like protein 1

Gene

LZTFL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NQ48

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620922, BBSome-mediated cargo-targeting to cilium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Leucine zipper transcription factor-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LZTFL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000163818.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6741, LZTFL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606568, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQ48

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07010487L → P in BBS17. 1 PublicationCorresponds to variant dbSNP:rs515726135EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi24 – 25KR → AS: Increases BBS4, BBS8 and BBS9 ciliary localization. 1 Publication2

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Obesity

Organism-specific databases

DisGeNET

More...
DisGeNETi
54585

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
LZTFL1

MalaCards human disease database

More...
MalaCardsi
LZTFL1
MIMi615994, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163818

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
110, Bardet-Biedl syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30505

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NQ48, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LZTFL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74734310

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003187571 – 299Leucine zipper transcription factor-like protein 1Add BLAST299

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NQ48

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NQ48

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NQ48

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NQ48

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NQ48

PeptideAtlas

More...
PeptideAtlasi
Q9NQ48

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQ48

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
3643
82080 [Q9NQ48-1]

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
IPI00478250

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQ48

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NQ48

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163818, Expressed in amniotic fluid and 228 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NQ48, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NQ48, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000163818, Tissue enhanced (lymphoid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
120062, 33 interactors

Protein interaction database and analysis system

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IntActi
Q9NQ48, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000296135

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NQ48, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NQ48

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni145 – 299Interaction with BSS9Add BLAST155

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili96 – 296Sequence analysisAdd BLAST201

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LZTFL1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QRGB, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016415

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_083519_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NQ48

KEGG Orthology (KO)

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KOi
K19400

Identification of Orthologs from Complete Genome Data

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OMAi
SQAEKWH

Database of Orthologous Groups

More...
OrthoDBi
1107668at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NQ48

TreeFam database of animal gene trees

More...
TreeFami
TF329023

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026157, LZTFL1

The PANTHER Classification System

More...
PANTHERi
PTHR21635, PTHR21635, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15294, Leu_zip, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C488H7C488_HUMAN
Leucine zipper transcription factor...
LZTFL1
235Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J0R9C9J0R9_HUMAN
Leucine zipper transcription factor...
LZTFL1
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z2E6F2Z2E6_HUMAN
Leucine zipper transcription factor...
LZTFL1
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WB22F8WB22_HUMAN
Leucine zipper transcription factor...
LZTFL1
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2731.1 [Q9NQ48-1]
CCDS63608.1 [Q9NQ48-2]
CCDS63609.1 [Q9NQ48-3]

NCBI Reference Sequences

More...
RefSeqi
NP_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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000296135; ENSP00000296135; ENSG00000163818 [Q9NQ48-1]
ENST00000536047; ENSP00000439522; ENSG00000163818 [Q9NQ48-2]
ENST00000539217; ENSP00000441784; ENSG00000163818 [Q9NQ48-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54585

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54585

UCSC genome browser

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UCSCi
uc003cox.3, human [Q9NQ48-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

SMRiQ9NQ48
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120062, 33 interactors
IntActiQ9NQ48, 24 interactors
STRINGi9606.ENSP00000296135

PTM databases

iPTMnetiQ9NQ48
PhosphoSitePlusiQ9NQ48

Polymorphism and mutation databases

BioMutaiLZTFL1
DMDMi74734310

2D gel databases

REPRODUCTION-2DPAGEiIPI00478250

Proteomic databases

EPDiQ9NQ48
jPOSTiQ9NQ48
MassIVEiQ9NQ48
MaxQBiQ9NQ48
PaxDbiQ9NQ48
PeptideAtlasiQ9NQ48
PRIDEiQ9NQ48
ProteomicsDBi3643
82080 [Q9NQ48-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
29604, 248 antibodies

The DNASU plasmid repository

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DNASUi
54585

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54585
DisGeNETi54585
EuPathDBiHostDB:ENSG00000163818.16

GeneCards: human genes, protein and diseases

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GeneCardsi
LZTFL1
GeneReviewsiLZTFL1
HGNCiHGNC:6741, LZTFL1
HPAiENSG00000163818, Tissue enhanced (lymphoid)
MalaCardsiLZTFL1
MIMi606568, gene
615994, phenotype
neXtProtiNX_Q9NQ48
OpenTargetsiENSG00000163818
Orphaneti110, Bardet-Biedl syndrome
PharmGKBiPA30505

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QRGB, Eukaryota
GeneTreeiENSGT00390000016415
HOGENOMiCLU_083519_0_0_1
InParanoidiQ9NQ48
KOiK19400
OMAiSQAEKWH
OrthoDBi1107668at2759
PhylomeDBiQ9NQ48
TreeFamiTF329023

Enzyme and pathway databases

PathwayCommonsiQ9NQ48
ReactomeiR-HSA-5620922, BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
54585, 3 hits in 870 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
LZTFL1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54585
PharosiQ9NQ48, Tbio

Protein Ontology

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PROi
PR:Q9NQ48
RNActiQ9NQ48, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163818, Expressed in amniotic fluid and 228 other tissues
ExpressionAtlasiQ9NQ48, baseline and differential
GenevisibleiQ9NQ48, HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLZTL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NQ48
Secondary accession number(s): B3KSI9
, B4E0K7, Q8TC61, Q9NQ56
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: October 1, 2000
Last modified: August 12, 2020
This is version 139 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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