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UniProtKB - O95644 (NFAC1_HUMAN)

Entry version 202 (08 May 2019)
Sequence version 3 (01 Dec 2000)
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Protein

Nuclear factor of activated T-cells, cytoplasmic 1

Gene

NFATC1

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

Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi439 – 4468

<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 ...

<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 functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2025928 Calcineurin activates NFAT
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-4086398 Ca2+ pathway
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation

SIGNOR Signaling Network Open Resource

More...SIGNORi		O95644

<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:
Nuclear factor of activated T-cells, cytoplasmic 1
Short name:
NF-ATc1
Short name:
NFATc1
Alternative name(s):
NFAT transcription complex cytosolic component
Short name:
NF-ATc
Short name:
NFATc
<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:NFATC1
Synonyms:NFAT2, NFATC
<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 18

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7775 NFATC1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600489 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95644

<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

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi169S → A: No effect on subcellular localization. 1
Mutagenesisi172S → A: Partial nuclear translocation. 1 Publication1
Mutagenesisi187S → A: No effect on subcellular localization. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		4772

Open Targets

More...OpenTargetsi		ENSG00000131196

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31582

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3876

Drug and drug target database

More...DrugBanki		DB00852 Pseudoephedrine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NFATC1

<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_00000303291 – 943Nuclear factor of activated T-cells, cytoplasmic 1Add BLAST943

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 residuei233PhosphoserineCombined sources1
Modified residuei237PhosphoserineBy similarity1
Modified residuei245Phosphoserine; by PKA1 Publication1
Modified residuei269Phosphoserine; by PKA1 Publication1
Modified residuei294Phosphoserine; by PKA1 Publication1

<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 by NFATC-kinase and GSK3B; phosphorylation induces NFATC1 nuclear exit and dephosphorylation by calcineurin promotes nuclear import. Phosphorylation by PKA and DYRK2 negatively modulates nuclear accumulation, and promotes subsequent phosphorylation by GSK3B or casein kinase 1.3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O95644

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O95644

MaxQB - The MaxQuant DataBase

More...MaxQBi		O95644

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

More...PaxDbi		O95644

PeptideAtlas

More...PeptideAtlasi		O95644

PRoteomics IDEntifications database

More...PRIDEi		O95644

ProteomicsDB human proteome resource

More...ProteomicsDBi		50973
50974 [O95644-2]
50975 [O95644-3]
50976 [O95644-4]
50977 [O95644-5]
50978 [O95644-6]
50979 [O95644-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95644

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

More...PhosphoSitePlusi		O95644

<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 thymus, peripheral leukocytes as T-cells and spleen. Isoforms A are preferentially expressed in effector T-cells (thymus and peripheral leukocytes) whereas isoforms B and isoforms C are preferentially expressed in naive T-cells (spleen). Isoforms B are expressed in naive T-cells after first antigen exposure and isoforms A are expressed in effector T-cells after second antigen exposure. Isoforms IA are widely expressed but not detected in liver nor pancreas, neural expression is strongest in corpus callosum. Isoforms IB are expressed mostly in muscle, cerebellum, placenta and thymus, neural expression in fetal and adult brain, strongest in corpus callosum.1 Publication

<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

Only isoforms A are inducibly expressed in T lymphocytes upon activation of the T-cell receptor (TCR) complex. Induced after co-addition of phorbol 12-myristate 13-acetate (PMA) and ionomycin. Also induced after co-addition of 12-O-tetradecanoylphorbol-13-acetate (TPA) and ionomycin. Weakly induced with PMA, ionomycin and cyclosporin A.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000131196 Expressed in 198 organ(s), highest expression level in muscle organ

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95644 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95644 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB004513
HPA071732

<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

Member of the multicomponent NFATC transcription complex that consists of at least two components, a pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other members such as NFATC4, NFATC3 or members of the activating protein-1 family, MAF, GATA4 and Cbp/p300 can also bind the complex. NFATC proteins bind to DNA as monomers (PubMed:9506523). Interacts with HOMER2 and HOMER3; this interaction may compete with calcineurin/PPP3CA-binding and hence prevent NFATC1 dephosphorylation and activation (PubMed:18218901).2 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		110845, 143 interactors

Database of interacting proteins

More...DIPi		DIP-44311N

Protein interaction database and analysis system

More...IntActi		O95644, 47 interactors

Molecular INTeraction database

More...MINTi		O95644

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000389377

<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

1943
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		O95644

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O95644

<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 ‘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>Repeati203 – 2191Add BLAST17
Repeati233 – 2492Add BLAST17
Repeati282 – 2983Add BLAST17
<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>Domaini410 – 592RHDPROSITE-ProRule annotationAdd BLAST183

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>Regioni118 – 123Calcineurin-binding6
Regioni126 – 218Trans-activation domain A (TAD-A)Add BLAST93
Regioni203 – 2983 X SP repeatsAdd BLAST96
Regioni703 – 943Trans-activation domain B (TAD-B)Add BLAST241

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi265 – 267Nuclear localization signal3
Motifi310 – 321Nuclear export signalAdd BLAST12
Motifi682 – 684Nuclear localization signal3
Motifi924 – 933Nuclear export signal10

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
The N-terminal transactivation domain (TAD-A) binds to and is activated by Cbp/p300. The dephosphorylated form contains two unmasked nuclear localization signals (NLS), which allow translocation of the protein to the nucleus.
Isoforms C have a C-terminal part with an additional trans-activation domain, TAD-B, which acts as a transcriptional activator. Isoforms B have a shorter C-terminal part without complete TAD-B which acts as a transcriptional repressor.

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IHFR Eukaryota
ENOG41105U2 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157616

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231780

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95644

KEGG Orthology (KO)

More...KOi		K04446

Identification of Orthologs from Complete Genome Data

More...OMAi		QIMMPPD

Database of Orthologous Groups

More...OrthoDBi		277998at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95644

TreeFam database of animal gene trees

More...TreeFami		TF326480

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 1 hit
2.60.40.340, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002909 IPT_dom
IPR008366 NFAT
IPR015647 NFAT1
IPR008967 p53-like_TF_DNA-bd
IPR032397 RHD_dimer
IPR011539 RHD_DNA_bind_dom
IPR037059 RHD_DNA_bind_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR12533 PTHR12533, 1 hit
PTHR12533:SF5 PTHR12533:SF5, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16179 RHD_dimer, 1 hit
PF00554 RHD_DNA_bind, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01789 NUCFACTORATC

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00429 IPT, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49417 SSF49417, 1 hit
SSF81296 SSF81296, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50254 REL_2, 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 (10+)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 10 <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 and alternative initiation. AlignAdd to basket
Note: Isoform C-alpha and isoform C-beta are the strongest activator of gene transcription, followed by isoform A-alpha and isoform A-beta, whereas isoform B-alpha and isoform B-beta are the weakest. Isoform B-alpha, isoform B-beta, isoform C-alpha and isoform C-beta, both present in T-cells, can modulate their transcriptional activity.

This entry has 10 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform C-alpha (identifier: O95644-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MPSTSFPVPS KFPLGPAAAV FGRGETLGPA PRAGGTMKSA EEEHYGYASS 
        60         70         80         90        100
NVSPALPLPT AHSTLPAPCH NLQTSTPGII PPADHPSGYG AALDGGPAGY 
       110        120        130        140        150
FLSSGHTRPD GAPALESPRI EITSCLGLYH NNNQFFHDVE VEDVLPSSKR 
       160        170        180        190        200
SPSTATLSLP SLEAYRDPSC LSPASSLSSR SCNSEASSYE SNYSYPYASP 
       210        220        230        240        250
QTSPWQSPCV SPKTTDPEEG FPRGLGACTL LGSPRHSPST SPRASVTEES 
       260        270        280        290        300
WLGARSSRPA SPCNKRKYSL NGRQPPYSPH HSPTPSPHGS PRVSVTDDSW 
       310        320        330        340        350
LGNTTQYTSS AIVAAINALT TDSSLDLGDG VPVKSRKTTL EQPPSVALKV 
       360        370        380        390        400
EPVGEDLGSP PPPADFAPED YSSFQHIRKG GFCDQYLAVP QHPYQWAKPK 
       410        420        430        440        450
PLSPTSYMSP TLPALDWQLP SHSGPYELRI EVQPKSHHRA HYETEGSRGA 
       460        470        480        490        500
VKASAGGHPI VQLHGYLENE PLMLQLFIGT ADDRLLRPHA FYQVHRITGK 
       510        520        530        540        550
TVSTTSHEAI LSNTKVLEIP LLPENSMRAV IDCAGILKLR NSDIELRKGE 
       560        570        580        590        600
TDIGRKNTRV RLVFRVHVPQ PSGRTLSLQV ASNPIECSQR SAQELPLVEK 
       610        620        630        640        650
QSTDSYPVVG GKKMVLSGHN FLQDSKVIFV EKAPDGHHVW EMEAKTDRDL 
       660        670        680        690        700
CKPNSLVVEI PPFRNQRITS PVHVSFYVCN GKRKRSQYQR FTYLPANVPI 
       710        720        730        740        750
IKTEPTDDYE PAPTCGPVSQ GLSPLPRPYY SQQLAMPPDP SSCLVAGFPP 
       760        770        780        790        800
CPQRSTLMPA APGVSPKLHD LSPAAYTKGV ASPGHCHLGL PQPAGEAPAV 
       810        820        830        840        850
QDVPRPVATH PGSPGQPPPA LLPQQVSAPP SSSCPPGLEH SLCPSSPSPP 
       860        870        880        890        900
LPPATQEPTC LQPCSPACPP ATGRPQHLPS TVRRDESPTA GPRLLPEVHE 
       910        920        930        940 
DGSPNLAPIP VTVKREPEEL DQLYLDDVNE IIRNDLSSTS THS
Length:943
Mass (Da):101,243
Last modified:December 1, 2000 - 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:iE72FAB10ECEB2D66
GO
Isoform A-alpha (identifier: O95644-2) [UniParc]FASTAAdd to basket
Also known as: IA-VIII

The sequence of this isoform differs from the canonical sequence as follows:
     698-716: VPIIKTEPTDDYEPAPTCG → GNAIFLTVSREHERVGCFF
     717-943: Missing.

Show »
Length:716
Mass (Da):77,785
Checksum:iC02F3B03F2019BB1
GO
Isoform A-beta (identifier: O95644-3) [UniParc]FASTAAdd to basket
Also known as: IB-VIII

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP
     698-716: VPIIKTEPTDDYEPAPTCG → GNAIFLTVSREHERVGCFF
     717-943: Missing.

Show »
Length:703
Mass (Da):76,879
Checksum:i57650B6E2A9A219C
GO
Isoform B-alpha (identifier: O95644-4) [UniParc]FASTAAdd to basket
Also known as: IA-IXS

The sequence of this isoform differs from the canonical sequence as follows:
     826-943: Missing.

Show »
Length:825
Mass (Da):88,763
Checksum:i28469C5BE89B00CC
GO
Isoform B-beta (identifier: O95644-5) [UniParc]FASTAAdd to basket
Also known as: IB-IXS

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP
     826-943: Missing.

Show »
Length:812
Mass (Da):87,857
Checksum:iDBF68E35846E998D
GO
Isoform C-beta (identifier: O95644-6) [UniParc]FASTAAdd to basket
Also known as: IB-IXL

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP

Show »
Length:930
Mass (Da):100,336
Checksum:i8708706F1C8938AC
GO
Isoform A-alpha' (identifier: O95644-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
     698-716: VPIIKTEPTDDYEPAPTCG → GNAIFLTVSREHERVGCFF
     717-943: Missing.

Note: Produced by alternative initiation at Met-37 of isoform A-alpha. No experimental confirmation available.
Show »
Length:680
Mass (Da):74,276
Checksum:iD9D7060FEB4E81DF
GO
Isoform IA-deltaIX (identifier: O95644-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     698-927: Missing.

Show »
Length:713
Mass (Da):77,376
Checksum:iB797CFCFF28F8976
GO
Isoform IB-deltaIX (identifier: O95644-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP
     698-927: Missing.

Show »
Length:700
Mass (Da):76,469
Checksum:i4A4F5475DF755F89
GO
Isoform 10 (identifier: O95644-17) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-472: Missing.
     826-943: Missing.

Note: No experimental evidence available.
Show »
Length:353
Mass (Da):38,626
Checksum:iAB8DEB0C451190DD
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ER53K7ER53_HUMAN
Nuclear factor of-activated T-cells...
NFATC1
639Annotation 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>
F5H4S8F5H4S8_HUMAN
Nuclear factor of-activated T-cells...
NFATC1
471Annotation 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>
K7EQ04K7EQ04_HUMAN
Nuclear factor of-activated T-cells...
NFATC1
71Annotation 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 conflicti232G → S in AAC50869 (PubMed:8702849).Curated1
Sequence conflicti235R → Q in AAA19601 (PubMed:8202141).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_05714568P → T. Corresponds to variant dbSNP:rs1051978Ensembl.1
Natural variantiVAR_036529315A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs779866756Ensembl.1
Natural variantiVAR_057146751C → G. Corresponds to variant dbSNP:rs754093Ensembl.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_0538061 – 472Missing in isoform 10. CuratedAdd BLAST472
Alternative sequenceiVSP_0055901 – 42MPSTS…KSAEE → MTGLEDQEFDFEFLFEFNQR DEGAAAAAP in isoform A-beta, isoform B-beta, isoform C-beta and isoform IB-deltaIX. 3 PublicationsAdd BLAST42
Alternative sequenceiVSP_0189781 – 36Missing in isoform A-alpha'. CuratedAdd BLAST36
Alternative sequenceiVSP_047820698 – 927Missing in isoform IA-deltaIX and isoform IB-deltaIX. 1 PublicationAdd BLAST230
Alternative sequenceiVSP_005591698 – 716VPIIK…APTCG → GNAIFLTVSREHERVGCFF in isoform A-alpha, isoform A-alpha' and isoform A-beta. 3 PublicationsAdd BLAST19
Alternative sequenceiVSP_005592717 – 943Missing in isoform A-alpha, isoform A-alpha' and isoform A-beta. 3 PublicationsAdd BLAST227
Alternative sequenceiVSP_005593826 – 943Missing in isoform B-alpha, isoform B-beta and isoform 10. 2 PublicationsAdd BLAST118

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
U08015 mRNA Translation: AAA19601.1
U59736 mRNA Translation: AAC50869.1
U80917 mRNA Translation: AAD00450.1
U80918 mRNA Translation: AAD00451.1
U80919 mRNA Translation: AAD00452.1
EU887559 mRNA Translation: ACG55579.1
EU887560 mRNA Translation: ACG55580.1
EU887561 mRNA Translation: ACG55581.1
EU887562 mRNA Translation: ACG55582.1
EU887563 mRNA Translation: ACG55583.1
EU887564 mRNA Translation: ACG55584.1
EU887565 mRNA Translation: ACG55585.1
EU887566 mRNA Translation: ACG55586.1
AC018445 Genomic DNA No translation available.
AC023090 Genomic DNA No translation available.
CH471117 Genomic DNA Translation: EAW66621.1
CH471117 Genomic DNA Translation: EAW66622.1
BC104753 mRNA Translation: AAI04754.1
BC112243 mRNA Translation: AAI12244.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12015.1 [O95644-4]
CCDS12016.1 [O95644-17]
CCDS32850.1 [O95644-6]
CCDS59326.1 [O95644-2]
CCDS59327.1 [O95644-5]
CCDS62467.1 [O95644-1]
CCDS62468.1 [O95644-10]
CCDS62469.1 [O95644-11]
CCDS62470.1 [O95644-3]

Protein sequence database of the Protein Information Resource

More...PIRi		S45262

NCBI Reference Sequences

More...RefSeqi		NP_001265598.1, NM_001278669.1 [O95644-1]
NP_001265599.1, NM_001278670.1 [O95644-10]
NP_001265601.1, NM_001278672.1 [O95644-11]
NP_001265602.1, NM_001278673.1
NP_001265604.1, NM_001278675.1 [O95644-3]
NP_006153.2, NM_006162.4 [O95644-4]
NP_765975.1, NM_172387.2 [O95644-6]
NP_765976.1, NM_172388.2 [O95644-17]
NP_765977.1, NM_172389.2 [O95644-5]
NP_765978.1, NM_172390.2 [O95644-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000253506; ENSP00000253506; ENSG00000131196 [O95644-4]
ENST00000318065; ENSP00000316553; ENSG00000131196 [O95644-5]
ENST00000329101; ENSP00000327850; ENSG00000131196 [O95644-6]
ENST00000397790; ENSP00000380892; ENSG00000131196 [O95644-17]
ENST00000427363; ENSP00000389377; ENSG00000131196 [O95644-1]
ENST00000542384; ENSP00000442435; ENSG00000131196 [O95644-10]
ENST00000586434; ENSP00000466489; ENSG00000131196 [O95644-11]
ENST00000591814; ENSP00000466194; ENSG00000131196 [O95644-2]
ENST00000592223; ENSP00000467181; ENSG00000131196 [O95644-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4772

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4772

UCSC genome browser

More...UCSCi		uc002lnc.3 human [O95644-1]

Keywords - Coding sequence diversityi

Alternative initiation, 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
U08015 mRNA Translation: AAA19601.1
U59736 mRNA Translation: AAC50869.1
U80917 mRNA Translation: AAD00450.1
U80918 mRNA Translation: AAD00451.1
U80919 mRNA Translation: AAD00452.1
EU887559 mRNA Translation: ACG55579.1
EU887560 mRNA Translation: ACG55580.1
EU887561 mRNA Translation: ACG55581.1
EU887562 mRNA Translation: ACG55582.1
EU887563 mRNA Translation: ACG55583.1
EU887564 mRNA Translation: ACG55584.1
EU887565 mRNA Translation: ACG55585.1
EU887566 mRNA Translation: ACG55586.1
AC018445 Genomic DNA No translation available.
AC023090 Genomic DNA No translation available.
CH471117 Genomic DNA Translation: EAW66621.1
CH471117 Genomic DNA Translation: EAW66622.1
BC104753 mRNA Translation: AAI04754.1
BC112243 mRNA Translation: AAI12244.1
CCDSiCCDS12015.1 [O95644-4]
CCDS12016.1 [O95644-17]
CCDS32850.1 [O95644-6]
CCDS59326.1 [O95644-2]
CCDS59327.1 [O95644-5]
CCDS62467.1 [O95644-1]
CCDS62468.1 [O95644-10]
CCDS62469.1 [O95644-11]
CCDS62470.1 [O95644-3]
PIRiS45262
RefSeqiNP_001265598.1, NM_001278669.1 [O95644-1]
NP_001265599.1, NM_001278670.1 [O95644-10]
NP_001265601.1, NM_001278672.1 [O95644-11]
NP_001265602.1, NM_001278673.1
NP_001265604.1, NM_001278675.1 [O95644-3]
NP_006153.2, NM_006162.4 [O95644-4]
NP_765975.1, NM_172387.2 [O95644-6]
NP_765976.1, NM_172388.2 [O95644-17]
NP_765977.1, NM_172389.2 [O95644-5]
NP_765978.1, NM_172390.2 [O95644-2]

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
1A66NMR-A414-591[»]
1NFANMR-A416-591[»]
5SVEX-ray2.60C384-400[»]
SMRiO95644
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110845, 143 interactors
DIPiDIP-44311N
IntActiO95644, 47 interactors
MINTiO95644
STRINGi9606.ENSP00000389377

Chemistry databases

ChEMBLiCHEMBL3876
DrugBankiDB00852 Pseudoephedrine

PTM databases

iPTMnetiO95644
PhosphoSitePlusiO95644

Polymorphism and mutation databases

BioMutaiNFATC1

Proteomic databases

EPDiO95644
jPOSTiO95644
MaxQBiO95644
PaxDbiO95644
PeptideAtlasiO95644
PRIDEiO95644
ProteomicsDBi50973
50974 [O95644-2]
50975 [O95644-3]
50976 [O95644-4]
50977 [O95644-5]
50978 [O95644-6]
50979 [O95644-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253506; ENSP00000253506; ENSG00000131196 [O95644-4]
ENST00000318065; ENSP00000316553; ENSG00000131196 [O95644-5]
ENST00000329101; ENSP00000327850; ENSG00000131196 [O95644-6]
ENST00000397790; ENSP00000380892; ENSG00000131196 [O95644-17]
ENST00000427363; ENSP00000389377; ENSG00000131196 [O95644-1]
ENST00000542384; ENSP00000442435; ENSG00000131196 [O95644-10]
ENST00000586434; ENSP00000466489; ENSG00000131196 [O95644-11]
ENST00000591814; ENSP00000466194; ENSG00000131196 [O95644-2]
ENST00000592223; ENSP00000467181; ENSG00000131196 [O95644-3]
GeneIDi4772
KEGGihsa:4772
UCSCiuc002lnc.3 human [O95644-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4772
DisGeNETi4772

GeneCards: human genes, protein and diseases

More...GeneCardsi		NFATC1
HGNCiHGNC:7775 NFATC1
HPAiCAB004513
HPA071732
MIMi600489 gene
neXtProtiNX_O95644
OpenTargetsiENSG00000131196
PharmGKBiPA31582

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IHFR Eukaryota
ENOG41105U2 LUCA
GeneTreeiENSGT00940000157616
HOGENOMiHOG000231780
InParanoidiO95644
KOiK04446
OMAiQIMMPPD
OrthoDBi277998at2759
PhylomeDBiO95644
TreeFamiTF326480

Enzyme and pathway databases

ReactomeiR-HSA-2025928 Calcineurin activates NFAT
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-4086398 Ca2+ pathway
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation
SIGNORiO95644

Miscellaneous databases

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

More...ChiTaRSi		NFATC1 human
EvolutionaryTraceiO95644

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NFATC1

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

More...GenomeRNAii		4772

Protein Ontology

More...PROi		PR:O95644

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000131196 Expressed in 198 organ(s), highest expression level in muscle organ
ExpressionAtlasiO95644 baseline and differential
GenevisibleiO95644 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
2.60.40.340, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002909 IPT_dom
IPR008366 NFAT
IPR015647 NFAT1
IPR008967 p53-like_TF_DNA-bd
IPR032397 RHD_dimer
IPR011539 RHD_DNA_bind_dom
IPR037059 RHD_DNA_bind_dom_sf
PANTHERiPTHR12533 PTHR12533, 1 hit
PTHR12533:SF5 PTHR12533:SF5, 1 hit
PfamiView protein in Pfam
PF16179 RHD_dimer, 1 hit
PF00554 RHD_DNA_bind, 1 hit
PRINTSiPR01789 NUCFACTORATC
SMARTiView protein in SMART
SM00429 IPT, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS50254 REL_2, 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 nameiNFAC1_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: O95644
Secondary accession number(s): B5B2M4
, B5B2M5, B5B2M6, B5B2M7, B5B2M8, B5B2M9, B5B2N1, Q12865, Q15793, Q2M1S3
<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: December 1, 2000
Last sequence update: December 1, 2000
Last modified: May 8, 2019
This is version 202 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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