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UniProtKB - P02787 (TRFE_HUMAN)

Protein

Serotransferrin

Gene

TF

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

Transferrins are iron binding transport proteins which can bind two Fe3+ ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi82Iron 11
Metal bindingi114Iron 11
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei139Carbonate 11
Binding sitei143Carbonate 11
Binding sitei145Carbonate 1; via amide nitrogen1
Binding sitei146Carbonate 1; via amide nitrogen1
Metal bindingi207Iron 11
Metal bindingi268Iron 11
Metal bindingi411Iron 2PROSITE-ProRule annotation1
Metal bindingi445Iron 2PROSITE-ProRule annotation1
Binding sitei471Carbonate 2PROSITE-ProRule annotation1
Binding sitei475Carbonate 2PROSITE-ProRule annotation1
Binding sitei477Carbonate 2; via amide nitrogenPROSITE-ProRule annotation1
Binding sitei478Carbonate 2; via amide nitrogenPROSITE-ProRule annotation1
Metal bindingi536Iron 2PROSITE-ProRule annotation1
Metal bindingi604Iron 2PROSITE-ProRule annotation1

<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

  • ferric iron binding Source: InterPro
  • ferric iron transmembrane transporter activity Source: InterPro
  • ferrous iron binding Source: BHF-UCL
  • iron chaperone activity Source: BHF-UCL
  • transferrin receptor binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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

Biological processIon transport, Iron transport, Transport
LigandIron, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608 Platelet degranulation
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-917937 Iron uptake and transport
R-HSA-917977 Transferrin endocytosis and recycling

SIGNOR Signaling Network Open Resource

More...SIGNORi		P02787

Protein family/group databases

MEROPS protease database

More...MEROPSi		S60.975

<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:
Serotransferrin
Short name:
Transferrin
Alternative name(s):
Beta-1 metal-binding globulin
Siderophilin
<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:TF
ORF Names:PRO1400
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000091513.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:11740 TF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		190000 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P02787

<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

Keywords - Cellular componenti

Secreted

<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

Atransferrinemia (ATRAF)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.
See also OMIM:209300
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_03881077D → N in ATRAF. 1 PublicationCorresponds to variant dbSNP:rs121918681EnsemblClinVar.1
Natural variantiVAR_012997477A → P in ATRAF. 1 PublicationCorresponds to variant dbSNP:rs121918679EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		7018

MalaCards human disease database

More...MalaCardsi		TF
MIMi209300 phenotype

Open Targets

More...OpenTargetsi		ENSG00000091513

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

More...Orphaneti		1195 Congenital atransferrinemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36457

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4865

Drug and drug target database

More...DrugBanki		DB01370 Aluminium
DB01294 Bismuth Subsalicylate
DB05260 Gallium nitrate
DB00893 Iron Dextran
DB09146 Iron saccharate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TF

Domain mapping of disease mutations (DMDM)

More...DMDMi		313104271

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 191 PublicationAdd BLAST19
<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_000003571520 – 698SerotransferrinAdd BLAST679

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi28 ↔ 67PROSITE-ProRule annotation1 Publication
Disulfide bondi38 ↔ 58PROSITE-ProRule annotation1 Publication
<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 residuei42Dimethylated arginineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>GlycosylationiCAR_00007351O-linked (GalNAc...) serine1
Disulfide bondi137 ↔ 213PROSITE-ProRule annotation1 Publication
Disulfide bondi156 ↔ 350PROSITE-ProRule annotation1 Publication
Disulfide bondi177 ↔ 193PROSITE-ProRule annotation1 Publication
Disulfide bondi180 ↔ 196PROSITE-ProRule annotation1 Publication
Disulfide bondi190 ↔ 198PROSITE-ProRule annotation1 Publication
Disulfide bondi246 ↔ 260PROSITE-ProRule annotation1 Publication
Disulfide bondi358 ↔ 615PROSITE-ProRule annotation1 Publication
Disulfide bondi364 ↔ 396PROSITE-ProRule annotation1 Publication
Disulfide bondi374 ↔ 387PROSITE-ProRule annotation1 Publication
Modified residuei389Phosphoserine; by FAM20C1 Publication1
Disulfide bondi421 ↔ 693PROSITE-ProRule annotation1 Publication
GlycosylationiCAR_000074432N-linked (GlcNAc...) (complex) asparagine6 Publications1
Disulfide bondi437 ↔ 656PROSITE-ProRule annotation1 Publication
Disulfide bondi469 ↔ 542PROSITE-ProRule annotation1 Publication
Glycosylationi491N-linked (GlcNAc...) asparagine; atypical; partial1 Publication1
Disulfide bondi493 ↔ 684PROSITE-ProRule annotation1 Publication
Disulfide bondi503 ↔ 517PROSITE-ProRule annotation1 Publication
Disulfide bondi514 ↔ 525PROSITE-ProRule annotation1 Publication
Disulfide bondi582 ↔ 596PROSITE-ProRule annotation1 Publication
GlycosylationiCAR_000075630N-linked (GlcNAc...) (complex) asparagine8 Publications1
Disulfide bondi634 ↔ 639PROSITE-ProRule annotation1 Publication
Modified residuei685Phosphoserine; by FAM20C1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P02787

MaxQB - The MaxQuant DataBase

More...MaxQBi		P02787

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

More...PaxDbi		P02787

PeptideAtlas

More...PeptideAtlasi		P02787

PRoteomics IDEntifications database

More...PRIDEi		P02787

ProteomicsDB human proteome resource

More...ProteomicsDBi		12708
51596

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P02787

2D gel databases

DOSAC-COBS 2D-PAGE database

More...DOSAC-COBS-2DPAGEi		P02787

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00022463
P02787

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P02787

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P02787

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P02787

GlyConnect protein glycosylation platform

More...GlyConnecti		558

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P02787

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

More...PhosphoSitePlusi		P02787

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P02787

UniCarbKB; an annotated and curated database of glycan structures

More...UniCarbKBi		P02787

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		P02787

<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 by the liver and secreted in plasma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000091513 Expressed in 193 organ(s), highest expression level in inferior vagus X ganglion

CleanEx database of gene expression profiles

More...CleanExi		HS_TF

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P02787 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P02787 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB009538
HPA001527
HPA005692

<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

Monomer.

<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

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112876, 44 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P02787

Database of interacting proteins

More...DIPi		DIP-2738N

Protein interaction database and analysis system

More...IntActi		P02787, 54 interactors

Molecular INTeraction database

More...MINTi		P02787

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000385834

<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

1698
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P02787

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

More...SMRi		P02787

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		P02787

<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>Domaini25 – 347Transferrin-like 1PROSITE-ProRule annotationAdd BLAST323
Domaini361 – 683Transferrin-like 2PROSITE-ProRule annotationAdd BLAST323

<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 transferrin family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IEAI Eukaryota
ENOG410XQ36 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154388

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000252723

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG000055

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P02787

KEGG Orthology (KO)

More...KOi		K14736

Identification of Orthologs from Complete Genome Data

More...OMAi		REGTCPE

Database of Orthologous Groups

More...OrthoDBi		EOG091G0242

Database for complete collections of gene phylogenies

More...PhylomeDBi		P02787

TreeFam database of animal gene trees

More...TreeFami		TF324013

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR030685 Serotransferrin_mammal
IPR016357 Transferrin
IPR001156 Transferrin-like_dom
IPR018195 Transferrin_Fe_BS

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00405 Transferrin, 2 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF500682 Serotransferrin, 1 hit
PIRSF002549 Transferrin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00422 TRANSFERRIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00094 TR_FER, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00205 TRANSFERRIN_LIKE_1, 1 hit
PS00206 TRANSFERRIN_LIKE_2, 2 hits
PS00207 TRANSFERRIN_LIKE_3, 2 hits
PS51408 TRANSFERRIN_LIKE_4, 2 hits

<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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

P02787-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRLAVGALLV CAVLGLCLAV PDKTVRWCAV SEHEATKCQS FRDHMKSVIP 
        60         70         80         90        100
SDGPSVACVK KASYLDCIRA IAANEADAVT LDAGLVYDAY LAPNNLKPVV 
       110        120        130        140        150
AEFYGSKEDP QTFYYAVAVV KKDSGFQMNQ LRGKKSCHTG LGRSAGWNIP 
       160        170        180        190        200
IGLLYCDLPE PRKPLEKAVA NFFSGSCAPC ADGTDFPQLC QLCPGCGCST 
       210        220        230        240        250
LNQYFGYSGA FKCLKDGAGD VAFVKHSTIF ENLANKADRD QYELLCLDNT 
       260        270        280        290        300
RKPVDEYKDC HLAQVPSHTV VARSMGGKED LIWELLNQAQ EHFGKDKSKE 
       310        320        330        340        350
FQLFSSPHGK DLLFKDSAHG FLKVPPRMDA KMYLGYEYVT AIRNLREGTC 
       360        370        380        390        400
PEAPTDECKP VKWCALSHHE RLKCDEWSVN SVGKIECVSA ETTEDCIAKI 
       410        420        430        440        450
MNGEADAMSL DGGFVYIAGK CGLVPVLAEN YNKSDNCEDT PEAGYFAIAV 
       460        470        480        490        500
VKKSASDLTW DNLKGKKSCH TAVGRTAGWN IPMGLLYNKI NHCRFDEFFS 
       510        520        530        540        550
EGCAPGSKKD SSLCKLCMGS GLNLCEPNNK EGYYGYTGAF RCLVEKGDVA 
       560        570        580        590        600
FVKHQTVPQN TGGKNPDPWA KNLNEKDYEL LCLDGTRKPV EEYANCHLAR 
       610        620        630        640        650
APNHAVVTRK DKEACVHKIL RQQQHLFGSN VTDCSGNFCL FRSETKDLLF 
       660        670        680        690 
RDDTVCLAKL HDRNTYEKYL GEEYVKAVGN LRKCSTSSLL EACTFRRP
Length:698
Mass (Da):77,064
Last modified:November 30, 2010 - 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:i9A73B90D8C5671E9
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WCI6F8WCI6_HUMAN
Serotransferrin
TF
120Annotation 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>
F8WEK9F8WEK9_HUMAN
Serotransferrin
TF
115Annotation 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>
F8WC57F8WC57_HUMAN
Serotransferrin
TF
102Annotation 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>
H7C5E8H7C5E8_HUMAN
Serotransferrin
TF
143Annotation 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>
C9JVG0C9JVG0_HUMAN
Serotransferrin
TF
134Annotation 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>
C9JB55C9JB55_HUMAN
Serotransferrin
TF
75Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF22007 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti216D → N in AAH59367 (PubMed:15489334).Curated1
Sequence conflicti264Q → E AA sequence (PubMed:6833213).Curated1
Sequence conflicti329D → N AA sequence (PubMed:6833213).Curated1
Sequence conflicti329D → N in AAA61141 (PubMed:3858812).Curated1
Sequence conflicti351P → Q in AAH59367 (PubMed:15489334).Curated1
Sequence conflicti380 – 381NS → SD AA sequence (PubMed:6833213).Curated2
Sequence conflicti436N → D AA sequence (PubMed:6833213).Curated1
Sequence conflicti558 – 561PQNT → TQNP AA sequence (PubMed:6833213).Curated4
Sequence conflicti591E → Q AA sequence (PubMed:6833213).Curated1
Sequence conflicti672E → Q AA sequence (PubMed:6833213).Curated1
Sequence conflicti691E → G in AAA61142 (PubMed:6322780).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1).

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03456942R → L. Corresponds to variant dbSNP:rs41298293Ensembl.1
Natural variantiVAR_02928055S → R1 PublicationCorresponds to variant dbSNP:rs8177318Ensembl.1
Natural variantiVAR_03457076A → V. Corresponds to variant dbSNP:rs41298977Ensembl.1
Natural variantiVAR_03881077D → N in ATRAF. 1 PublicationCorresponds to variant dbSNP:rs121918681EnsemblClinVar.1
Natural variantiVAR_011997142G → S1 PublicationCorresponds to variant dbSNP:rs1799830Ensembl.1
Natural variantiVAR_011998277G → S in allele TF*C3; associated with a reduction in total iron binding capacity; risk factor for iron deficiency anemia in menstruating white women. 3 PublicationsCorresponds to variant dbSNP:rs1799899EnsemblClinVar.1
Natural variantiVAR_007544296D → G in allele TF*D1. 1 PublicationCorresponds to variant dbSNP:rs8177238EnsemblClinVar.1
Natural variantiVAR_007545319H → R in allele TF*CHI. Corresponds to variant dbSNP:rs41295774EnsemblClinVar.1
Natural variantiVAR_011999377W → C. Corresponds to variant dbSNP:rs1804498Ensembl.1
Natural variantiVAR_058199448I → VCombined sources12 PublicationsCorresponds to variant dbSNP:rs2692696Ensembl.1
Natural variantiVAR_012997477A → P in ATRAF. 1 PublicationCorresponds to variant dbSNP:rs121918679EnsemblClinVar.1
Natural variantiVAR_034571562G → V. Corresponds to variant dbSNP:rs41296590Ensembl.1
Natural variantiVAR_012000589P → S in allele TF*C2. 4 PublicationsCorresponds to variant dbSNP:rs1049296EnsemblClinVar.1
Natural variantiVAR_012001645T → P. Corresponds to variant dbSNP:rs1130537Ensembl.1
Natural variantiVAR_012998646K → E in allele TF*BV. 1 PublicationCorresponds to variant dbSNP:rs121918678EnsemblClinVar.1
Natural variantiVAR_012999671G → E in allele TF*B2. 1 PublicationCorresponds to variant dbSNP:rs121918677EnsemblClinVar.1

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
M12530 mRNA Translation: AAA61140.1
M17611, M17610 Genomic DNA Translation: AAA61147.1
M17614, M17612, M17613 Genomic DNA Translation: AAA61148.1
S95936 mRNA Translation: AAB22049.1
AF288144
, AF294270, AF294271, AF288139, AF288140, AF288141, AF288142, AF288143 Genomic DNA Translation: AAK77664.1
AY308797 Genomic DNA Translation: AAP45055.1
DQ525716 Genomic DNA Translation: ABF47110.1
AC080128 mRNA No translation available.
AC083905 mRNA No translation available.
CH471052 Genomic DNA Translation: EAW79167.1
BC059367 mRNA Translation: AAH59367.1
M21569, M15673 Genomic DNA Translation: AAA61143.2
M21570 Genomic DNA Translation: AAA61145.1
X04600 Genomic DNA Translation: CAA28265.1
AJ252279 mRNA Translation: CAB96907.1
M11372
, M11361, M11362, M11363, M11364, M11365, M11366, M11367, M11368, M11369, M11370, M11371 Genomic DNA Translation: AAA61141.1
AF118063 mRNA Translation: AAF22007.1 Different initiation.
M12525 mRNA Translation: AAA61142.1
U88581 mRNA Translation: AAB97880.1
AF058327 Genomic DNA Translation: AAC63506.1
M26641 mRNA Translation: AAA61233.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3080.1

Protein sequence database of the Protein Information Resource

More...PIRi		A20981 TFHUP

NCBI Reference Sequences

More...RefSeqi		NP_001054.1, NM_001063.3
XP_016862578.1, XM_017007089.1
XP_016862579.1, XM_017007090.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.518267

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000402696; ENSP00000385834; ENSG00000091513

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7018

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7018

UCSC genome browser

More...UCSCi		uc003epv.2 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

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

Wikipedia

Transferrin entry

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M12530 mRNA Translation: AAA61140.1
M17611, M17610 Genomic DNA Translation: AAA61147.1
M17614, M17612, M17613 Genomic DNA Translation: AAA61148.1
S95936 mRNA Translation: AAB22049.1
AF288144
, AF294270, AF294271, AF288139, AF288140, AF288141, AF288142, AF288143 Genomic DNA Translation: AAK77664.1
AY308797 Genomic DNA Translation: AAP45055.1
DQ525716 Genomic DNA Translation: ABF47110.1
AC080128 mRNA No translation available.
AC083905 mRNA No translation available.
CH471052 Genomic DNA Translation: EAW79167.1
BC059367 mRNA Translation: AAH59367.1
M21569, M15673 Genomic DNA Translation: AAA61143.2
M21570 Genomic DNA Translation: AAA61145.1
X04600 Genomic DNA Translation: CAA28265.1
AJ252279 mRNA Translation: CAB96907.1
M11372
, M11361, M11362, M11363, M11364, M11365, M11366, M11367, M11368, M11369, M11370, M11371 Genomic DNA Translation: AAA61141.1
AF118063 mRNA Translation: AAF22007.1 Different initiation.
M12525 mRNA Translation: AAA61142.1
U88581 mRNA Translation: AAB97880.1
AF058327 Genomic DNA Translation: AAC63506.1
M26641 mRNA Translation: AAA61233.1
CCDSiCCDS3080.1
PIRiA20981 TFHUP
RefSeqiNP_001054.1, NM_001063.3
XP_016862578.1, XM_017007089.1
XP_016862579.1, XM_017007090.1
UniGeneiHs.518267

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
1A8EX-ray1.60A22-350[»]
1A8FX-ray1.80A22-350[»]
1B3EX-ray2.50A23-352[»]
1BP5X-ray2.20A/B/C/D20-356[»]
1BTJX-ray3.20A/B20-356[»]
1D3KX-ray1.80A22-350[»]
1D4NX-ray2.00A22-350[»]
1DTGX-ray2.40A20-353[»]
1FQEX-ray1.80A20-350[»]
1FQFX-ray2.10A20-350[»]
1JQFX-ray1.85A20-353[»]
1N7WX-ray2.20A22-350[»]
1N7XX-ray2.10A20-350[»]
1N84X-ray2.05A20-350[»]
1OQGX-ray1.90A20-354[»]
1OQHX-ray2.40A20-354[»]
1RYOX-ray1.20A20-346[»]
1SUVelectron microscopy7.50C/D22-350[»]
2HAUX-ray2.70A/B23-698[»]
2HAVX-ray2.70A/B23-698[»]
2O7UX-ray2.80A/B/C/D/E/F/G/H/I20-356[»]
2O84X-ray2.60X20-356[»]
3FGSX-ray1.80A20-356[»]
3QYTX-ray2.80A20-698[»]
3S9LX-ray3.22C/D20-698[»]
3S9MX-ray3.32C/D20-698[»]
3S9NX-ray3.25C/D20-698[»]
3SKPX-ray1.70A358-698[»]
3V83X-ray2.10A/B/C/D/E/F1-698[»]
3V89X-ray3.10B356-698[»]
3V8XX-ray2.60B1-698[»]
3VE1X-ray2.96B/D20-698[»]
4H0WX-ray2.40A20-698[»]
4X1BX-ray2.45A20-698[»]
4X1DX-ray2.80A/B20-698[»]
5DYHX-ray2.68A/B1-698[»]
5H52X-ray3.00A20-698[»]
5WTDX-ray2.50A20-698[»]
5X5PX-ray2.70A20-698[»]
5Y6KX-ray2.86A20-698[»]
6CTCX-ray2.60A20-698[»]
6D03electron microscopy3.68C/D1-698[»]
6D04electron microscopy3.74C/D1-698[»]
6D05electron microscopy3.80C/D1-698[»]
ProteinModelPortaliP02787
SMRiP02787
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112876, 44 interactors
CORUMiP02787
DIPiDIP-2738N
IntActiP02787, 54 interactors
MINTiP02787
STRINGi9606.ENSP00000385834

Chemistry databases

ChEMBLiCHEMBL4865
DrugBankiDB01370 Aluminium
DB01294 Bismuth Subsalicylate
DB05260 Gallium nitrate
DB00893 Iron Dextran
DB09146 Iron saccharate

Protein family/group databases

MEROPSiS60.975

PTM databases

CarbonylDBiP02787
GlyConnecti558
iPTMnetiP02787
PhosphoSitePlusiP02787
SwissPalmiP02787
UniCarbKBiP02787

Polymorphism and mutation databases

BioMutaiTF
DMDMi313104271

2D gel databases

DOSAC-COBS-2DPAGEiP02787
REPRODUCTION-2DPAGEiIPI00022463
P02787
SWISS-2DPAGEiP02787
UCD-2DPAGEiP02787

Proteomic databases

EPDiP02787
MaxQBiP02787
PaxDbiP02787
PeptideAtlasiP02787
PRIDEiP02787
ProteomicsDBi12708
51596
TopDownProteomicsiP02787

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000402696; ENSP00000385834; ENSG00000091513
GeneIDi7018
KEGGihsa:7018
UCSCiuc003epv.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7018
DisGeNETi7018
EuPathDBiHostDB:ENSG00000091513.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		TF
HGNCiHGNC:11740 TF
HPAiCAB009538
HPA001527
HPA005692
MalaCardsiTF
MIMi190000 gene
209300 phenotype
neXtProtiNX_P02787
OpenTargetsiENSG00000091513
Orphaneti1195 Congenital atransferrinemia
PharmGKBiPA36457

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IEAI Eukaryota
ENOG410XQ36 LUCA
GeneTreeiENSGT00940000154388
HOGENOMiHOG000252723
HOVERGENiHBG000055
InParanoidiP02787
KOiK14736
OMAiREGTCPE
OrthoDBiEOG091G0242
PhylomeDBiP02787
TreeFamiTF324013

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-917937 Iron uptake and transport
R-HSA-917977 Transferrin endocytosis and recycling
SIGNORiP02787

Miscellaneous databases

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

More...ChiTaRSi		TF human
EvolutionaryTraceiP02787

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Transferrin

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

More...GenomeRNAii		7018
PMAP-CutDBiP02787

Protein Ontology

More...PROi		PR:P02787

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000091513 Expressed in 193 organ(s), highest expression level in inferior vagus X ganglion
CleanExiHS_TF
ExpressionAtlasiP02787 baseline and differential
GenevisibleiP02787 HS

Family and domain databases

InterProiView protein in InterPro
IPR030685 Serotransferrin_mammal
IPR016357 Transferrin
IPR001156 Transferrin-like_dom
IPR018195 Transferrin_Fe_BS
PfamiView protein in Pfam
PF00405 Transferrin, 2 hits
PIRSFiPIRSF500682 Serotransferrin, 1 hit
PIRSF002549 Transferrin, 1 hit
PRINTSiPR00422 TRANSFERRIN
SMARTiView protein in SMART
SM00094 TR_FER, 2 hits
PROSITEiView protein in PROSITE
PS00205 TRANSFERRIN_LIKE_1, 1 hit
PS00206 TRANSFERRIN_LIKE_2, 2 hits
PS00207 TRANSFERRIN_LIKE_3, 2 hits
PS51408 TRANSFERRIN_LIKE_4, 2 hits

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 nameiTRFE_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: P02787
Secondary accession number(s): O43890
, Q1HBA5, Q9NQB8, Q9UHV0
<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: July 21, 1986
Last sequence update: November 30, 2010
Last modified: December 5, 2018
This is version 230 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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