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UniProtKB - Q8NFG4 (FLCN_HUMAN)

Entry version 144 (18 Sep 2019)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
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Protein

Folliculin

Gene

FLCN

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

May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.3 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8NFG4

<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_and_taxonomy_section">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:
Folliculin
Alternative name(s):
BHD skin lesion fibrofolliculoma protein
Birt-Hogg-Dube syndrome protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:FLCN
Synonyms:BHD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:27310 FLCN

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607273 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NFG4

<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, Nucleus

<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

Birt-Hogg-Dube syndrome (BHD)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients.
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_066023108S → I in BHD. 1 Publication1
Natural variantiVAR_066029508K → R in BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin. 2 PublicationsCorresponds to variant dbSNP:rs199643834EnsemblClinVar.1
Primary spontaneous pneumothorax (PSP)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCondition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066024132E → K in PSP. 1 Publication1
Natural variantiVAR_066025157Missing in PSP; impaired protein stability. 2 Publications1
Natural variantiVAR_066028429H → Y in PSP. 1 PublicationCorresponds to variant dbSNP:rs375082054EnsemblClinVar.1
Renal cell carcinoma (RCC)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionRenal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066026239R → C in RCC; impaired protein stability. 2 PublicationsCorresponds to variant dbSNP:rs78683075EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		201163

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

More...GeneReviewsi		FLCN

MalaCards human disease database

More...MalaCardsi		FLCN
MIMi135150 phenotype
144700 phenotype
173600 phenotype

Open Targets

More...OpenTargetsi		ENSG00000154803

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

More...Orphaneti		122 Birt-Hogg-Dube syndrome
2903 Familial spontaneous pneumothorax
422526 Hereditary clear cell renal cell carcinoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134901005

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FLCN

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751276

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002239401 – 579FolliculinAdd BLAST579

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei62PhosphoserineCombined sources1
Modified residuei73PhosphoserineCombined sources1
Modified residuei302PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated. Several different phosphorylated forms exist.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NFG4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NFG4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NFG4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NFG4

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

More...PaxDbi		Q8NFG4

PeptideAtlas

More...PeptideAtlasi		Q8NFG4

PRoteomics IDEntifications database

More...PRIDEi		Q8NFG4

ProteomicsDB human proteome resource

More...ProteomicsDBi		73302 [Q8NFG4-1]
73303 [Q8NFG4-2]
73304 [Q8NFG4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NFG4

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

More...PhosphoSitePlusi		Q8NFG4

<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 most tissues tested, including skin, lung, kidney, heart, testis and stomach.1 Publication

<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 fetal lung, kidney, liver, and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000154803 Expressed in 212 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NFG4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NFG4 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB015158
HPA028760

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via C-terminus) with FNIP1 and FNIP2 (via C-terminus). This mediates indirect interaction with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5'-AMP-activated protein kinase (PubMed:17028174, PubMed:18403135, PubMed:18663353, PubMed:27353360).

Interacts with HSP90AA1 in the presence of FNIP1.

Interacts with HSP70, STUB1, CDC37, AHSA1, CCT2, STIP1, PTGES3 and PPP5C (PubMed:27353360).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		128366, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8NFG4

Database of interacting proteins

More...DIPi		DIP-61287N

Protein interaction database and analysis system

More...IntActi		Q8NFG4, 26 interactors

Molecular INTeraction database

More...MINTi		Q8NFG4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000285071

<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

Secondary structure

1579
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q8NFG4

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini86 – 242uDENN FLCN/SMCR8-typePROSITE-ProRule annotationAdd BLAST157
Domaini339 – 491cDENN FLCN/SMCR8-typePROSITE-ProRule annotationAdd BLAST153
Domaini493 – 558dDENN FLCN/SMCR8-typePROSITE-ProRule annotationAdd BLAST66

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 coili287 – 310Sequence analysisAdd BLAST24

<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 folliculin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3715 Eukaryota
ENOG410XQ9Y LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009864

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000052507

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NFG4

KEGG Orthology (KO)

More...KOi		K09594

Identification of Orthologs from Complete Genome Data

More...OMAi		CYCALTG

Database of Orthologous Groups

More...OrthoDBi		188544at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NFG4

TreeFam database of animal gene trees

More...TreeFami		TF315084

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037521 FLCN/SMCR8_DENN
IPR021713 Folliculin
IPR037520 Folliculin/SMCR8_N
IPR032035 Folliculin_C

The PANTHER Classification System

More...PANTHERi		PTHR31441 PTHR31441, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF11704 Folliculin, 1 hit
PF16692 Folliculin_C, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51834 DENN_FLCN_SMCR8, 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFG4-1) [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
MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG 
        60         70         80         90        100
GIQMNSRMRA HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK 
       110        120        130        140        150
ETSIKYVSHQ HPSHPQLFSI VRQACVRSLS CEVCPGREGP IFFGDEQHGF 
       160        170        180        190        200
VFSHTFFIKD SLARGFQRWY SIITIMMDRI YLINSWPFLL GKVRGIIDEL 
       210        220        230        240        250
QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS LTSLTSDDNL 
       260        270        280        290        300
WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD 
       310        320        330        340        350
NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR 
       360        370        380        390        400
HMRQVLGAPS FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV 
       410        420        430        440        450
RIIPYSSQYE EAYRCNFLGL SPHVQIPPHV LSSEFAVIVE VHAAARSTLH 
       460        470        480        490        500
PVGCEDDQSL SKYEFVVTSG SPVAADRVGP TILNKIEAAL TNQNLSVDVV 
       510        520        530        540        550
DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG ASEEDNVKLL 
       560        570 
KFWMTGLSKT YKSHLMSTVR SPTASESRN
Length:579
Mass (Da):64,473
Last modified:October 1, 2002 - 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:iE168EB34544C6336
GO
Isoform 2 (identifier: Q8NFG4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     291-342: DLEEESESWD...SGCGSWQPRK → GEAGVLLPGP...LREAHPPISV
     343-579: Missing.

Note: No experimental confirmation available.
Show »
Length:342
Mass (Da):37,742
Checksum:i3147596F8D7DF849
GO
Isoform 3 (identifier: Q8NFG4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     134-197: CPGREGPIFF...FLLGKVRGII → SLVATEPVSV...ELREESCWTC
     198-579: Missing.

Note: No experimental confirmation available.
Show »
Length:197
Mass (Da):20,877
Checksum:i8B2D060B096D7F7B
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J4C4C9J4C4_HUMAN
Folliculin
FLCN
153Annotation 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>
J3QQZ7J3QQZ7_HUMAN
Folliculin
FLCN
37Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02535679S → W in a sporadic colorectal carcinoma; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137852930EnsemblClinVar.1
Natural variantiVAR_066023108S → I in BHD. 1 Publication1
Natural variantiVAR_066024132E → K in PSP. 1 Publication1
Natural variantiVAR_066025157Missing in PSP; impaired protein stability. 2 Publications1
Natural variantiVAR_025357238A → V in a renal cell carcinoma cell line. 1 Publication1
Natural variantiVAR_066026239R → C in RCC; impaired protein stability. 2 PublicationsCorresponds to variant dbSNP:rs78683075EnsemblClinVar.1
Natural variantiVAR_025358320R → Q in a primary colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs143483053EnsemblClinVar.1
Natural variantiVAR_066027362R → C Found in a colorectal cell line; impaired protein stability. 1 PublicationCorresponds to variant dbSNP:rs557336321EnsemblClinVar.1
Natural variantiVAR_025359392R → G in a primary colorectal cancer; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1060502374Ensembl.1
Natural variantiVAR_066028429H → Y in PSP. 1 PublicationCorresponds to variant dbSNP:rs375082054EnsemblClinVar.1
Natural variantiVAR_025360444A → S in a primary clear-cell renal cell carcinoma; somatic mutation. 1 Publication1
Natural variantiVAR_025361445A → T in a sporadic colorectal carcinoma; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs41419545EnsemblClinVar.1
Natural variantiVAR_066029508K → R in BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin. 2 PublicationsCorresponds to variant dbSNP:rs199643834EnsemblClinVar.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_017312134 – 197CPGRE…VRGII → SLVATEPVSVGAHMLPGALG GLGASIAQGGRHWSSLRADP QISTAQGTGRLPCPELREES CWTC in isoform 3. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_017313198 – 579Missing in isoform 3. 1 PublicationAdd BLAST382
Alternative sequenceiVSP_017314291 – 342DLEEE…WQPRK → GEAGVLLPGPWPGWPWGGTS CLLSWQESLREGNAALNQPR TSLREAHPPISV in isoform 2. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_017315343 – 579Missing in isoform 2. 1 PublicationAdd BLAST237

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF517523 mRNA Translation: AAM94803.1
AK127912 mRNA Translation: BAC87186.1
AK126951 mRNA Translation: BAC86760.1
AC055811 Genomic DNA No translation available.
CH471196 Genomic DNA Translation: EAW55716.1
BC015687 mRNA Translation: AAH15687.1
BC015725 mRNA Translation: AAH15725.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32579.1 [Q8NFG4-1]
CCDS32580.1 [Q8NFG4-2]

NCBI Reference Sequences

More...RefSeqi		NP_653207.1, NM_144606.5 [Q8NFG4-2]
NP_659434.2, NM_144997.5 [Q8NFG4-1]
XP_016879795.1, XM_017024306.1
XP_016879796.1, XM_017024307.1
XP_016879797.1, XM_017024308.1 [Q8NFG4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000285071; ENSP00000285071; ENSG00000154803 [Q8NFG4-1]
ENST00000389169; ENSP00000373821; ENSG00000154803 [Q8NFG4-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		201163

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:201163

UCSC genome browser

More...UCSCi		uc002gra.5 human [Q8NFG4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Leiden Open Variation Database

Folliculin (FLCN)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF517523 mRNA Translation: AAM94803.1
AK127912 mRNA Translation: BAC87186.1
AK126951 mRNA Translation: BAC86760.1
AC055811 Genomic DNA No translation available.
CH471196 Genomic DNA Translation: EAW55716.1
BC015687 mRNA Translation: AAH15687.1
BC015725 mRNA Translation: AAH15725.2
CCDSiCCDS32579.1 [Q8NFG4-1]
CCDS32580.1 [Q8NFG4-2]
RefSeqiNP_653207.1, NM_144606.5 [Q8NFG4-2]
NP_659434.2, NM_144997.5 [Q8NFG4-1]
XP_016879795.1, XM_017024306.1
XP_016879796.1, XM_017024307.1
XP_016879797.1, XM_017024308.1 [Q8NFG4-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3V42X-ray2.00A/B341-566[»]
SMRiQ8NFG4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi128366, 42 interactors
CORUMiQ8NFG4
DIPiDIP-61287N
IntActiQ8NFG4, 26 interactors
MINTiQ8NFG4
STRINGi9606.ENSP00000285071

PTM databases

iPTMnetiQ8NFG4
PhosphoSitePlusiQ8NFG4

Polymorphism and mutation databases

BioMutaiFLCN
DMDMi74751276

Proteomic databases

EPDiQ8NFG4
jPOSTiQ8NFG4
MassIVEiQ8NFG4
MaxQBiQ8NFG4
PaxDbiQ8NFG4
PeptideAtlasiQ8NFG4
PRIDEiQ8NFG4
ProteomicsDBi73302 [Q8NFG4-1]
73303 [Q8NFG4-2]
73304 [Q8NFG4-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		201163
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000285071; ENSP00000285071; ENSG00000154803 [Q8NFG4-1]
ENST00000389169; ENSP00000373821; ENSG00000154803 [Q8NFG4-2]
GeneIDi201163
KEGGihsa:201163
UCSCiuc002gra.5 human [Q8NFG4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		201163
DisGeNETi201163

GeneCards: human genes, protein and diseases

More...GeneCardsi		FLCN
GeneReviewsiFLCN
HGNCiHGNC:27310 FLCN
HPAiCAB015158
HPA028760
MalaCardsiFLCN
MIMi135150 phenotype
144700 phenotype
173600 phenotype
607273 gene
neXtProtiNX_Q8NFG4
OpenTargetsiENSG00000154803
Orphaneti122 Birt-Hogg-Dube syndrome
2903 Familial spontaneous pneumothorax
422526 Hereditary clear cell renal cell carcinoma
PharmGKBiPA134901005

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3715 Eukaryota
ENOG410XQ9Y LUCA
GeneTreeiENSGT00390000009864
HOGENOMiHOG000052507
InParanoidiQ8NFG4
KOiK09594
OMAiCYCALTG
OrthoDBi188544at2759
PhylomeDBiQ8NFG4
TreeFamiTF315084

Enzyme and pathway databases

SIGNORiQ8NFG4

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Folliculin

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

More...GenomeRNAii		201163

Pharos

More...Pharosi		Q8NFG4

Protein Ontology

More...PROi		PR:Q8NFG4

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000154803 Expressed in 212 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ8NFG4 baseline and differential
GenevisibleiQ8NFG4 HS

Family and domain databases

InterProiView protein in InterPro
IPR037521 FLCN/SMCR8_DENN
IPR021713 Folliculin
IPR037520 Folliculin/SMCR8_N
IPR032035 Folliculin_C
PANTHERiPTHR31441 PTHR31441, 1 hit
PfamiView protein in Pfam
PF11704 Folliculin, 1 hit
PF16692 Folliculin_C, 1 hit
PROSITEiView protein in PROSITE
PS51834 DENN_FLCN_SMCR8, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiFLCN_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: Q8NFG4
Secondary accession number(s): A6NJJ8
, Q6ZRX1, Q96BD2, Q96BE4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: October 1, 2002
Last modified: September 18, 2019
This is version 144 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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