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Entry version 128 (08 May 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Fat storage-inducing transmembrane protein 2

Gene

FITM2

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 an important role in lipid droplet accumulation. Plays a role in the regulation of cell morphology and cytoskeletal organization.2 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 - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8964572 Lipid particle organization

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.B.287.1.1 the fat storage-inducing transmembrane protein 2 (fit2) family

<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:
Fat storage-inducing transmembrane protein 2
Alternative name(s):
Fat-inducing protein 2
<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:FITM2
Synonyms:C20orf142, FIT2
<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 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:16135 FITM2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612029 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6M3

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 23CytoplasmicSequence analysisAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei24 – 44HelicalSequence analysisAdd BLAST21
Topological domaini45 – 57ExtracellularSequence analysisAdd BLAST13
Transmembranei58 – 78HelicalSequence analysisAdd BLAST21
Topological domaini79 – 93CytoplasmicSequence analysisAdd BLAST15
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Topological domaini115 – 145ExtracellularSequence analysisAdd BLAST31
Transmembranei146 – 166HelicalSequence analysisAdd BLAST21
Topological domaini167 – 190CytoplasmicSequence analysisAdd BLAST24
Transmembranei191 – 211HelicalSequence analysisAdd BLAST21
Topological domaini212 – 218ExtracellularSequence analysis7
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Topological domaini240 – 262CytoplasmicSequence analysisAdd BLAST23

<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

Endoplasmic reticulum, Membrane

<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

FITM2 mutations may be the cause of Siddiqi syndrome, an autosomal recessive deafness-dystonia syndrome characterized by progressive hearing impairment, delayed development and subsequent regression of motor skills, dystonia, and low body mass index. Additional features include ichthyosis-like whitish scaling of the skin, scarring alopecia, and signs of small fiber neuropathy. A homozygous mutation predicted to cause protein truncation from the N-terminus segregates with the disease in a consanguineous family.1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Dystonia, Mental retardation

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000197296

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25685

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FITM2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
28212210

<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_00000210351 – 262Fat storage-inducing transmembrane protein 2Add BLAST262

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N6M3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N6M3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N6M3

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

More...
PaxDbi
Q8N6M3

PeptideAtlas

More...
PeptideAtlasi
Q8N6M3

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6M3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72192

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6M3

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

More...
PhosphoSitePlusi
Q8N6M3

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197296 Expressed in 197 organ(s), highest expression level in cardiac muscle of right atrium

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6M3 HS

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126125, 33 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6M3, 4 interactors

Molecular INTeraction database

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MINTi
Q8N6M3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000380037

<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

<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 FIT family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3750 Eukaryota
ENOG4111CNJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063693

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000089942

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6M3

Identification of Orthologs from Complete Genome Data

More...
OMAi
ERCAWFL

Database of Orthologous Groups

More...
OrthoDBi
1621925at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6M3

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019388 FIT

The PANTHER Classification System

More...
PANTHERi
PTHR23129 PTHR23129, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10261 Scs3p, 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>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.

Q8N6M3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEHLERCEWL LRGTLVRAAV RRYLPWALVA SMLAGSLLKE LSPLPESYLS
60 70 80 90 100
NKRNVLNVYF VKVAWAWTFC LLLPFIALTN YHLTGKAGLV LRRLSTLLVG
110 120 130 140 150
TAIWYICTSI FSNIEHYTGS CYQSPALEGV RKEHQSKQQC HQEGGFWHGF
160 170 180 190 200
DISGHSFLLT FCALMIVEEM SVLHEVKTDR SHCLHTAITT LVVALGILTF
210 220 230 240 250
IWVLMFLCTA VYFHNLSQKV FGTLFGLLSW YGTYGFWYPK AFSPGLPPQS
260
CSLNLKQDSY KK
Length:262
Mass (Da):29,855
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:i3822E7CEFBB6CDEB
GO

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_0812192 – 262Missing Probable disease-associated mutation found in patients with Siddiqi syndrome. 1 PublicationAdd BLAST261

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL117382 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75929.1
BC130446 mRNA Translation: AAI30447.1
BC136640 mRNA Translation: AAI36641.1
BC029662 mRNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33473.1

NCBI Reference Sequences

More...
RefSeqi
NP_001073941.1, NM_001080472.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000396825; ENSP00000380037; ENSG00000197296

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
128486

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:128486

UCSC genome browser

More...
UCSCi
uc002xlr.2 human

<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
AL117382 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75929.1
BC130446 mRNA Translation: AAI30447.1
BC136640 mRNA Translation: AAI36641.1
BC029662 mRNA No translation available.
CCDSiCCDS33473.1
RefSeqiNP_001073941.1, NM_001080472.3

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi126125, 33 interactors
IntActiQ8N6M3, 4 interactors
MINTiQ8N6M3
STRINGi9606.ENSP00000380037

Protein family/group databases

TCDBi9.B.287.1.1 the fat storage-inducing transmembrane protein 2 (fit2) family

PTM databases

iPTMnetiQ8N6M3
PhosphoSitePlusiQ8N6M3

Polymorphism and mutation databases

BioMutaiFITM2
DMDMi28212210

Proteomic databases

EPDiQ8N6M3
jPOSTiQ8N6M3
MaxQBiQ8N6M3
PaxDbiQ8N6M3
PeptideAtlasiQ8N6M3
PRIDEiQ8N6M3
ProteomicsDBi72192

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396825; ENSP00000380037; ENSG00000197296
GeneIDi128486
KEGGihsa:128486
UCSCiuc002xlr.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
128486

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FITM2
HGNCiHGNC:16135 FITM2
MIMi612029 gene
neXtProtiNX_Q8N6M3
OpenTargetsiENSG00000197296
PharmGKBiPA25685

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3750 Eukaryota
ENOG4111CNJ LUCA
GeneTreeiENSGT00530000063693
HOGENOMiHOG000089942
InParanoidiQ8N6M3
OMAiERCAWFL
OrthoDBi1621925at2759
PhylomeDBiQ8N6M3

Enzyme and pathway databases

ReactomeiR-HSA-8964572 Lipid particle organization

Miscellaneous databases

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

More...
ChiTaRSi
FITM2 human

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

More...
GenomeRNAii
128486

Protein Ontology

More...
PROi
PR:Q8N6M3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197296 Expressed in 197 organ(s), highest expression level in cardiac muscle of right atrium
GenevisibleiQ8N6M3 HS

Family and domain databases

InterProiView protein in InterPro
IPR019388 FIT
PANTHERiPTHR23129 PTHR23129, 1 hit
PfamiView protein in Pfam
PF10261 Scs3p, 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 nameiFITM2_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: Q8N6M3
Secondary accession number(s): A1L492
, B9EGQ4, Q5TE59, Q9H3Y1
<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, 2003
Last sequence update: October 1, 2002
Last modified: May 8, 2019
This is version 128 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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