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Protein

Filaggrin

Gene

FLG

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

Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi62 – 73PROSITE-ProRule annotationAdd BLAST12

<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

  • calcium ion binding Source: InterPro
  • structural constituent of epidermis Source: CAFA
  • structural molecule activity Source: UniProtKB
  • transition metal ion binding Source: InterPro

GO - Biological processi

  • cornification Source: Reactome
  • establishment of skin barrier Source: UniProtKB
  • keratinocyte differentiation Source: BHF-UCL
  • multicellular organism development Source: UniProtKB
  • peptide cross-linking Source: CAFA

<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>Keywordsi

Molecular functionDevelopmental protein
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-6809371 Formation of the cornified envelope

SIGNOR Signaling Network Open Resource

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SIGNORi
P20930

<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:
Filaggrin
<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:FLG
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143631.10

Human Gene Nomenclature Database

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HGNCi
HGNC:3748 FLG

Online Mendelian Inheritance in Man (OMIM)

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MIMi
135940 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P20930

<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; Source: COMPARTMENTS

<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

Ichthyosis vulgaris (VI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever.
See also OMIM:146700
Dermatitis atopic 2 (ATOD2)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAtopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee.
See also OMIM:605803

Keywords - Diseasei

Ichthyosis

Organism-specific databases

DisGeNET

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DisGeNETi
2312

MalaCards human disease database

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MalaCardsi
FLG
MIMi146700 phenotype
605803 phenotype

Open Targets

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OpenTargetsi
ENSG00000143631

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

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Orphaneti
462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28169

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FLG

Domain mapping of disease mutations (DMDM)

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DMDMi
84028206

<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_00001440361 – 4061FilaggrinAdd BLAST4061

<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

Filaggrin is initially synthesized as a large, insoluble, highly phosphorylated precursor containing many tandem copies of 324 AA, which are not separated by large linker sequences. During terminal differentiation it is dephosphorylated and proteolytically cleaved. The N-terminal of the mature protein is heterogeneous, and is blocked by the formation of pyroglutamate.
Undergoes deimination of some arginine residues (citrullination).1 Publication

Keywords - PTMi

Citrullination, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P20930

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

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PaxDbi
P20930

PeptideAtlas

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PeptideAtlasi
P20930

PRoteomics IDEntifications database

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PRIDEi
P20930

ProteomicsDB human proteome resource

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ProteomicsDBi
53826

Consortium for Top Down Proteomics

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TopDownProteomicsi
P20930

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P20930

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

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PhosphoSitePlusi
P20930

<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 skin, thymus, stomach, tonsils, testis, placenta, kidney, pancreas, mammary gland, bladder, thyroid, salivary gland and trachea, but not detected in heart, brain, liver, lung, bone marrow, small intestine, spleen, prostate, colon, or adrenal gland (PubMed:19384417). In the skin, mainly expressed in stratum granulosum of the epidermis (PubMed:1429717) (PubMed:19384417).2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

In cultured foreskin fibroblasts, up-regulated in response to Ca2+ stimulation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000143631 Expressed in 105 organ(s), highest expression level in mammalian vulva

CleanEx database of gene expression profiles

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CleanExi
HS_FLG

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P20930 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB002210
HPA027505
HPA030188
HPA030189

<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%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

WithEntry#Exp.IntActNotes
KLK5Q9Y3374EBI-1058782,EBI-9057524

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108601, 29 interactors

Protein interaction database and analysis system

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IntActi
P20930, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000357789

<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

14061
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4PCWX-ray2.20A/B/C/D1-92[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P20930

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

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SMRi
P20930

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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>Domaini6 – 43EF-hand 1PROSITE-ProRule annotationAdd BLAST38
Domaini49 – 84EF-hand 2PROSITE-ProRule annotationAdd BLAST36
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati258 – 306Filaggrin 1Add BLAST49
Repeati374 – 428Filaggrin 2Add BLAST55
Repeati579 – 630Filaggrin 3Add BLAST52
Repeati698 – 753Filaggrin 4Add BLAST56
Repeati904 – 955Filaggrin 5Add BLAST52
Repeati1023 – 1077Filaggrin 6Add BLAST55
Repeati1228 – 1279Filaggrin 7Add BLAST52
Repeati1347 – 1401Filaggrin 8Add BLAST55
Repeati1552 – 1603Filaggrin 9Add BLAST52
Repeati1671 – 1725Filaggrin 10Add BLAST55
Repeati1876 – 1927Filaggrin 11Add BLAST52
Repeati1995 – 2050Filaggrin 12Add BLAST56
Repeati2201 – 2252Filaggrin 13Add BLAST52
Repeati2320 – 2374Filaggrin 14Add BLAST55
Repeati2525 – 2576Filaggrin 15Add BLAST52
Repeati2644 – 2698Filaggrin 16Add BLAST55
Repeati2849 – 2900Filaggrin 17Add BLAST52
Repeati2968 – 3022Filaggrin 18Add BLAST55
Repeati3173 – 3224Filaggrin 19Add BLAST52
Repeati3292 – 3346Filaggrin 20Add BLAST55
Repeati3497 – 3548Filaggrin 21Add BLAST52
Repeati3616 – 3670Filaggrin 22Add BLAST55
Repeati3821 – 3872Filaggrin 23Add BLAST52

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 coili186 – 216Sequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi260 – 3955Ser-richAdd BLAST3696
Compositional biasi4057 – 4060Poly-Tyr4

<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 S100-fused protein family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IX7U Eukaryota
ENOG410ZH9F LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154467

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112591

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P20930

Identification of Orthologs from Complete Genome Data

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OMAi
QDTIRGH

Database of Orthologous Groups

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OrthoDBi
30610at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P20930

TreeFam database of animal gene trees

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TreeFami
TF338665

Family and domain databases

Conserved Domains Database

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CDDi
cd00213 S-100, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR003303 Filaggrin
IPR034325 S-100_dom
IPR001751 S100/CaBP-9k_CS
IPR013787 S100_Ca-bd_sub

Pfam protein domain database

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Pfami
View protein in Pfam
PF03516 Filaggrin, 23 hits
PF01023 S_100, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00487 FILAGGRIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01394 S_100, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 2 hits
PS00303 S100_CABP, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<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.

P20930-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSTLLENIFA IINLFKQYSK KDKNTDTLSK KELKELLEKE FRQILKNPDD
60 70 80 90 100
PDMVDVFMDH LDIDHNKKID FTEFLLMVFK LAQAYYESTR KENLPISGHK
110 120 130 140 150
HRKHSHHDKH EDNKQEENKE NRKRPSSLER RNNRKGNKGR SKSPRETGGK
160 170 180 190 200
RHESSSEKKE RKGYSPTHRE EEYGKNHHNS SKKEKNKTEN TRLGDNRKRL
210 220 230 240 250
SERLEEKEDN EEGVYDYENT GRMTQKWIQS GHIATYYTIQ DEAYDTTDSL
260 270 280 290 300
LEENKIYERS RSSDGKSSSQ VNRSRHENTS QVPLQESRTR KRRGSRVSQD
310 320 330 340 350
RDSEGHSEDS ERHSGSASRN HHGSAWEQSR DGSRHPRSHD EDRASHGHSA
360 370 380 390 400
DSSRQSGTRH AETSSRGQTA SSHEQARSSP GERHGSGHQQ SADSSRHSAT
410 420 430 440 450
GRGQASSAVS DRGHRGSSGS QASDSEGHSE NSDTQSVSGH GKAGLRQQSH
460 470 480 490 500
QESTRGRSGE RSGRSGSSLY QVSTHEQPDS AHGRTGTSTG GRQGSHHEQA
510 520 530 540 550
RDSSRHSASQ EGQDTIRGHP GSSRGGRQGS HHEQSVNRSG HSGSHHSHTT
560 570 580 590 600
SQGRSDASHG QSGSRSASRQ TRNEEQSGDG TRHSGSRHHE ASSQADSSRH
610 620 630 640 650
SQVGQGQSSG PRTSRNQGSS VSQDSDSQGH SEDSERWSGS ASRNHHGSAQ
660 670 680 690 700
EQSRDGSRHP RSHHEDRAGH GHSADSSRKS GTRHTQNSSS GQAASSHEQA
710 720 730 740 750
RSSAGERHGS RHQLQSADSS RHSGTGHGQA SSAVRDSGHR GSSGSQATDS
760 770 780 790 800
EGHSEDSDTQ SVSGHGQAGH HQQSHQESAR DRSGERSRRS GSFLYQVSTH
810 820 830 840 850
KQSESSHGWT GPSTGVRQGS HHEQARDNSR HSASQDGQDT IRGHPGSSRR
860 870 880 890 900
GRQGSHHEQS VDRSGHSGSH HSHTTSQGRS DASRGQSGSR SASRTTRNEE
910 920 930 940 950
QSRDGSRHSG SRHHEASSHA DISRHSQAGQ GQSEGSRTSR RQGSSVSQDS
960 970 980 990 1000
DSEGHSEDSE RWSGSASRNH RGSAQEQSRH GSRHPRSHHE DRAGHGHSAD
1010 1020 1030 1040 1050
SSRQSGTPHA ETSSGGQAAS SHEQARSSPG ERHGSRHQQS ADSSRHSGIP
1060 1070 1080 1090 1100
RRQASSAVRD SGHWGSSGSQ ASDSEGHSEE SDTQSVSGHG QDGPHQQSHQ
1110 1120 1130 1140 1150
ESARDWSGGR SGRSGSFIYQ VSTHEQSESA HGRTRTSTGR RQGSHHEQAR
1160 1170 1180 1190 1200
DSSRHSASQE GQDTIRAHPG SRRGGRQGSH HEQSVDRSGH SGSHHSHTTS
1210 1220 1230 1240 1250
QGRSDASHGQ SGSRSASRQT RKDKQSGDGS RHSGSRHHEA ASWADSSRHS
1260 1270 1280 1290 1300
QVGQEQSSGS RTSRHQGSSV SQDSDSERHS DDSERLSGSA SRNHHGSSRE
1310 1320 1330 1340 1350
QSRDGSRHPG FHQEDRASHG HSADSSRQSG THHTESSSHG QAVSSHEQAR
1360 1370 1380 1390 1400
SSPGERHGSR HQQSADSSRH SGIGHRQASS AVRDSGHRGS SGSQVTNSEG
1410 1420 1430 1440 1450
HSEDSDTQSV SAHGQAGPHQ QSHKESARGQ SGESSGRSRS FLYQVSSHEQ
1460 1470 1480 1490 1500
SESTHGQTAP STGGRQGSRH EQARNSSRHS ASQDGQDTIR GHPGSSRGGR
1510 1520 1530 1540 1550
QGSYHEQSVD RSGHSGYHHS HTTPQGRSDA SHGQSGPRSA SRQTRNEEQS
1560 1570 1580 1590 1600
GDGSRHSGSR HHEPSTRAGS SRHSQVGQGE SAGSKTSRRQ GSSVSQDRDS
1610 1620 1630 1640 1650
EGHSEDSERR SESASRNHYG SAREQSRHGS RNPRSHQEDR ASHGHSAESS
1660 1670 1680 1690 1700
RQSGTRHAET SSGGQAASSQ EQARSSPGER HGSRHQQSAD SSTDSGTGRR
1710 1720 1730 1740 1750
QDSSVVGDSG NRGSSGSQAS DSEGHSEESD TQSVSAHGQA GPHQQSHQES
1760 1770 1780 1790 1800
TRGQSGERSG RSGSFLYQVS THEQSESAHG RTGPSTGGRQ RSRHEQARDS
1810 1820 1830 1840 1850
SRHSASQEGQ DTIRGHPGSS RGGRQGSHYE QSVDSSGHSG SHHSHTTSQE
1860 1870 1880 1890 1900
RSDVSRGQSG SRSVSRQTRN EKQSGDGSRH SGSRHHEASS RADSSRHSQV
1910 1920 1930 1940 1950
GQGQSSGPRT SRNQGSSVSQ DSDSQGHSED SERWSGSASR NHLGSAWEQS
1960 1970 1980 1990 2000
RDGSRHPGSH HEDRAGHGHS ADSSRQSGTR HTESSSRGQA ASSHEQARSS
2010 2020 2030 2040 2050
AGERHGSHHQ LQSADSSRHS GIGHGQASSA VRDSGHRGYS GSQASDSEGH
2060 2070 2080 2090 2100
SEDSDTQSVS AQGKAGPHQQ SHKESARGQS GESSGRSGSF LYQVSTHEQS
2110 2120 2130 2140 2150
ESTHGQSAPS TGGRQGSHYD QAQDSSRHSA SQEGQDTIRG HPGPSRGGRQ
2160 2170 2180 2190 2200
GSHQEQSVDR SGHSGSHHSH TTSQGRSDAS RGQSGSRSAS RKTYDKEQSG
2210 2220 2230 2240 2250
DGSRHSGSHH HEASSWADSS RHSLVGQGQS SGPRTSRPRG SSVSQDSDSE
2260 2270 2280 2290 2300
GHSEDSERRS GSASRNHHGS AQEQSRDGSR HPRSHHEDRA GHGHSAESSR
2310 2320 2330 2340 2350
QSGTHHAENS SGGQAASSHE QARSSAGERH GSHHQQSADS SRHSGIGHGQ
2360 2370 2380 2390 2400
ASSAVRDSGH RGSSGSQASD SEGHSEDSDT QSVSAHGQAG PHQQSHQEST
2410 2420 2430 2440 2450
RGRSAGRSGR SGSFLYQVST HEQSESAHGR TGTSTGGRQG SHHKQARDSS
2460 2470 2480 2490 2500
RHSTSQEGQD TIHGHPGSSS GGRQGSHYEQ LVDRSGHSGS HHSHTTSQGR
2510 2520 2530 2540 2550
SDASHGHSGS RSASRQTRND EQSGDGSRHS GSRHHEASSR ADSSGHSQVG
2560 2570 2580 2590 2600
QGQSEGPRTS RNWGSSFSQD SDSQGHSEDS ERWSGSASRN HHGSAQEQLR
2610 2620 2630 2640 2650
DGSRHPRSHQ EDRAGHGHSA DSSRQSGTRH TQTSSGGQAA SSHEQARSSA
2660 2670 2680 2690 2700
GERHGSHHQQ SADSSRHSGI GHGQASSAVR DSGHRGYSGS QASDNEGHSE
2710 2720 2730 2740 2750
DSDTQSVSAH GQAGSHQQSH QESARGRSGE TSGHSGSFLY QVSTHEQSES
2760 2770 2780 2790 2800
SHGWTGPSTR GRQGSRHEQA QDSSRHSASQ DGQDTIRGHP GSSRGGRQGY
2810 2820 2830 2840 2850
HHEHSVDSSG HSGSHHSHTT SQGRSDASRG QSGSRSASRT TRNEEQSGDG
2860 2870 2880 2890 2900
SRHSGSRHHE ASTHADISRH SQAVQGQSEG SRRSRRQGSS VSQDSDSEGH
2910 2920 2930 2940 2950
SEDSERWSGS ASRNHHGSAQ EQLRDGSRHP RSHQEDRAGH GHSADSSRQS
2960 2970 2980 2990 3000
GTRHTQTSSG GQAASSHEQA RSSAGERHGS HHQQSADSSR HSGIGHGQAS
3010 3020 3030 3040 3050
SAVRDSGHRG YSGSQASDNE GHSEDSDTQS VSAHGQAGSH QQSHQESARG
3060 3070 3080 3090 3100
RSGETSGHSG SFLYQVSTHE QSESSHGWTG PSTRGRQGSR HEQAQDSSRH
3110 3120 3130 3140 3150
SASQYGQDTI RGHPGSSRGG RQGYHHEHSV DSSGHSGSHH SHTTSQGRSD
3160 3170 3180 3190 3200
ASRGQSGSRS ASRTTRNEEQ SGDSSRHSVS RHHEASTHAD ISRHSQAVQG
3210 3220 3230 3240 3250
QSEGSRRSRR QGSSVSQDSD SEGHSEDSER WSGSASRNHR GSVQEQSRHG
3260 3270 3280 3290 3300
SRHPRSHHED RAGHGHSADR SRQSGTRHAE TSSGGQAASS HEQARSSPGE
3310 3320 3330 3340 3350
RHGSRHQQSA DSSRHSGIPR GQASSAVRDS RHWGSSGSQA SDSEGHSEES
3360 3370 3380 3390 3400
DTQSVSGHGQ AGPHQQSHQE SARDRSGGRS GRSGSFLYQV STHEQSESAH
3410 3420 3430 3440 3450
GRTRTSTGRR QGSHHEQARD SSRHSASQEG QDTIRGHPGS SRRGRQGSHY
3460 3470 3480 3490 3500
EQSVDRSGHS GSHHSHTTSQ GRSDASRGQS GSRSASRQTR NDEQSGDGSR
3510 3520 3530 3540 3550
HSWSHHHEAS TQADSSRHSQ SGQGQSAGPR TSRNQGSSVS QDSDSQGHSE
3560 3570 3580 3590 3600
DSERWSGSAS RNHRGSAQEQ SRDGSRHPTS HHEDRAGHGH SAESSRQSGT
3610 3620 3630 3640 3650
HHAENSSGGQ AASSHEQARS SAGERHGSHH QQSADSSRHS GIGHGQASSA
3660 3670 3680 3690 3700
VRDSGHRGSS GSQASDSEGH SEDSDTQSVS AHGQAGPHQQ SHQESTRGRS
3710 3720 3730 3740 3750
AGRSGRSGSF LYQVSTHEQS ESAHGRAGPS TGGRQGSRHE QARDSSRHSA
3760 3770 3780 3790 3800
SQEGQDTIRG HPGSRRGGRQ GSYHEQSVDR SGHSGSHHSH TTSQGRSDAS
3810 3820 3830 3840 3850
HGQSGSRSAS RETRNEEQSG DGSRHSGSRH HEASTQADSS RHSQSGQGES
3860 3870 3880 3890 3900
AGSRRSRRQG SSVSQDSDSE AYPEDSERRS ESASRNHHGS SREQSRDGSR
3910 3920 3930 3940 3950
HPGSSHRDTA SHVQSSPVQS DSSTAKEHGH FSSLSQDSAY HSGIQSRGSP
3960 3970 3980 3990 4000
HSSSSYHYQS EGTERQKGQS GLVWRHGSYG SADYDYGESG FRHSQHGSVS
4010 4020 4030 4040 4050
YNSNPVVFKE RSDICKASAF GKDHPRYYAT YINKDPGLCG HSSDISKQLG
4060
FSQSQRYYYY E
Length:4,061
Mass (Da):435,170
Last modified:December 20, 2005 - v3
<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:i3F4B1181F04AD9C0
GO

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 conflicti2444K → Q in AAA52454 (PubMed:2740331).Curated1
Sequence conflicti2466P → R in AAA52454 (PubMed:2740331).Curated1
Sequence conflicti2652E → D in AAA52454 (PubMed:2740331).Curated1
Sequence conflicti2804H → Q in AAA52454 (PubMed:2740331).Curated1

Natural variant

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_061049332G → V. Corresponds to variant dbSNP:rs41267154Ensembl.1
Natural variantiVAR_061050444G → R. Corresponds to variant dbSNP:rs11588170Ensembl.1
Natural variantiVAR_059155454T → A. Corresponds to variant dbSNP:rs2011331Ensembl.1
Natural variantiVAR_059156478P → S. Corresponds to variant dbSNP:rs11584340Ensembl.1
Natural variantiVAR_059157725T → I. Corresponds to variant dbSNP:rs3120655Ensembl.1
Natural variantiVAR_061051742S → Y. Corresponds to variant dbSNP:rs3120654Ensembl.1
Natural variantiVAR_0459681184S → L. Corresponds to variant dbSNP:rs3120649Ensembl.1
Natural variantiVAR_0459691376R → G. Corresponds to variant dbSNP:rs11581433Ensembl.1
Natural variantiVAR_0459701437R → C. Corresponds to variant dbSNP:rs12750571Ensembl.1
Natural variantiVAR_0591581482S → Y. Corresponds to variant dbSNP:rs11204978Ensembl.1
Natural variantiVAR_0610521684R → H. Corresponds to variant dbSNP:rs12407807Ensembl.1
Natural variantiVAR_0591591699R → C. Corresponds to variant dbSNP:rs12405278Ensembl.1
Natural variantiVAR_0591601750S → F. Corresponds to variant dbSNP:rs3120647Ensembl.1
Natural variantiVAR_0459711805A → V. Corresponds to variant dbSNP:rs12405241Ensembl.1
Natural variantiVAR_0591611816H → Q. Corresponds to variant dbSNP:rs12073613Ensembl.1
Natural variantiVAR_0591621891R → Q. Corresponds to variant dbSNP:rs12407748Ensembl.1
Natural variantiVAR_0459721961H → Q. Corresponds to variant dbSNP:rs3126079Ensembl.1
Natural variantiVAR_0459732022I → T. Corresponds to variant dbSNP:rs142592778Ensembl.1
Natural variantiVAR_0591632108A → V. Corresponds to variant dbSNP:rs7522925Ensembl.1
Natural variantiVAR_0591642119Y → H. Corresponds to variant dbSNP:rs7512553Ensembl.1
Natural variantiVAR_0591652194Y → H. Corresponds to variant dbSNP:rs2184953Ensembl.1
Natural variantiVAR_0459742507H → Q. Corresponds to variant dbSNP:rs3126074Ensembl.1
Natural variantiVAR_0484722540R → Q. Corresponds to variant dbSNP:rs148050570Ensembl.1
Natural variantiVAR_0591662545G → R. Corresponds to variant dbSNP:rs3126072Ensembl.1
Natural variantiVAR_0484732781D → Y. Corresponds to variant dbSNP:rs759244716Ensembl.1
Natural variantiVAR_0591673105Y → D. Corresponds to variant dbSNP:rs2065958Ensembl.1
Natural variantiVAR_0591683179V → G. Corresponds to variant dbSNP:rs2065957Ensembl.1
Natural variantiVAR_0484743371S → F. Corresponds to variant dbSNP:rs3120647Ensembl.1
Natural variantiVAR_0484753396S → P. Corresponds to variant dbSNP:rs528344105Ensembl.1
Natural variantiVAR_0484763415H → Y. Corresponds to variant dbSNP:rs7512553Ensembl.1
Natural variantiVAR_0484773427S → Y. Corresponds to variant dbSNP:rs11204978Ensembl.1
Natural variantiVAR_0339313436G → A. Corresponds to variant dbSNP:rs2065955Ensembl.1
Natural variantiVAR_0484783437H → Q. Corresponds to variant dbSNP:rs12073613Ensembl.1
Natural variantiVAR_0484793490R → C. Corresponds to variant dbSNP:rs113933537Ensembl.1
Natural variantiVAR_0591693503W → G. Corresponds to variant dbSNP:rs12728908Ensembl.1
Natural variantiVAR_0484803512Q → R. Corresponds to variant dbSNP:rs571269174Ensembl.1
Natural variantiVAR_0591703564R → H. Corresponds to variant dbSNP:rs7518080Ensembl.1
Natural variantiVAR_0484813584D → N. Corresponds to variant dbSNP:rs3814300Ensembl.1
Natural variantiVAR_0591713593E → D. Corresponds to variant dbSNP:rs12083389Ensembl.1
Natural variantiVAR_0591723630H → Y. Corresponds to variant dbSNP:rs9436065Ensembl.1
Natural variantiVAR_0484823695S → F. Corresponds to variant dbSNP:rs3120647Ensembl.1
Natural variantiVAR_0484833696T → A. Corresponds to variant dbSNP:rs537909579Ensembl.1
Natural variantiVAR_0484843720S → P. Corresponds to variant dbSNP:rs11584340Ensembl.1
Natural variantiVAR_0484853739H → Y. Corresponds to variant dbSNP:rs7512553Ensembl.1
Natural variantiVAR_0484863751S → Y. Corresponds to variant dbSNP:rs776603551Ensembl.1
Natural variantiVAR_0484873760G → A. Corresponds to variant dbSNP:rs768192328Ensembl.1
Natural variantiVAR_0484883761H → Q. Corresponds to variant dbSNP:rs755367746Ensembl.1
Natural variantiVAR_0484893814R → C. Corresponds to variant dbSNP:rs146212122Ensembl.1
Natural variantiVAR_0484903827G → W. Corresponds to variant dbSNP:rs140464988Ensembl.1
Natural variantiVAR_0484913908D → N. Corresponds to variant dbSNP:rs3814300Ensembl.1
Natural variantiVAR_0484923935S → P. Corresponds to variant dbSNP:rs3126065Ensembl.1
Natural variantiVAR_0484933970S → L. Corresponds to variant dbSNP:rs3814299Ensembl.1

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
AL356504 Genomic DNA No translation available.
L01089 Genomic DNA Translation: AAA60177.1
M24355 mRNA Translation: AAA52454.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30860.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A32947
A45135
A48118

NCBI Reference Sequences

More...
RefSeqi
NP_002007.1, NM_002016.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.654510

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000368799; ENSP00000357789; ENSG00000143631

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2312

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2312

UCSC genome browser

More...
UCSCi
uc001ezu.1 human

Keywords - Coding sequence diversityi

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
AL356504 Genomic DNA No translation available.
L01089 Genomic DNA Translation: AAA60177.1
M24355 mRNA Translation: AAA52454.1
CCDSiCCDS30860.1
PIRiA32947
A45135
A48118
RefSeqiNP_002007.1, NM_002016.1
UniGeneiHs.654510

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4PCWX-ray2.20A/B/C/D1-92[»]
ProteinModelPortaliP20930
SMRiP20930
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108601, 29 interactors
IntActiP20930, 9 interactors
STRINGi9606.ENSP00000357789

PTM databases

iPTMnetiP20930
PhosphoSitePlusiP20930

Polymorphism and mutation databases

BioMutaiFLG
DMDMi84028206

Proteomic databases

jPOSTiP20930
PaxDbiP20930
PeptideAtlasiP20930
PRIDEiP20930
ProteomicsDBi53826
TopDownProteomicsiP20930

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368799; ENSP00000357789; ENSG00000143631
GeneIDi2312
KEGGihsa:2312
UCSCiuc001ezu.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2312
DisGeNETi2312
EuPathDBiHostDB:ENSG00000143631.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FLG

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0022704
HGNCiHGNC:3748 FLG
HPAiCAB002210
HPA027505
HPA030188
HPA030189
MalaCardsiFLG
MIMi135940 gene
146700 phenotype
605803 phenotype
neXtProtiNX_P20930
OpenTargetsiENSG00000143631
Orphaneti462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
PharmGKBiPA28169

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IX7U Eukaryota
ENOG410ZH9F LUCA
GeneTreeiENSGT00940000154467
HOGENOMiHOG000112591
InParanoidiP20930
OMAiQDTIRGH
OrthoDBi30610at2759
PhylomeDBiP20930
TreeFamiTF338665

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope
SIGNORiP20930

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Filaggrin

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

More...
GenomeRNAii
2312

Protein Ontology

More...
PROi
PR:P20930

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143631 Expressed in 105 organ(s), highest expression level in mammalian vulva
CleanExiHS_FLG
GenevisibleiP20930 HS

Family and domain databases

CDDicd00213 S-100, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR003303 Filaggrin
IPR034325 S-100_dom
IPR001751 S100/CaBP-9k_CS
IPR013787 S100_Ca-bd_sub
PfamiView protein in Pfam
PF03516 Filaggrin, 23 hits
PF01023 S_100, 1 hit
PRINTSiPR00487 FILAGGRIN
SMARTiView protein in SMART
SM01394 S_100, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 2 hits
PS00303 S100_CABP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiFILA_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: P20930
Secondary accession number(s): Q01720, Q5T583, Q9UC71
<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 1, 1991
Last sequence update: December 20, 2005
Last modified: January 16, 2019
This is version 168 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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