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UniProtKB - P01133 (EGF_HUMAN)

Protein

Pro-epidermal growth factor

Gene

EGF

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

EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro (PubMed:10964941).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 - Molecular functioni

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

Molecular functionGrowth factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608 Platelet degranulation
R-HSA-1227986 Signaling by ERBB2
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-1236394 Signaling by ERBB4
R-HSA-1250196 SHC1 events in ERBB2 signaling
R-HSA-1251932 PLCG1 events in ERBB2 signaling
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-177929 Signaling by EGFR
R-HSA-179812 GRB2 events in EGFR signaling
R-HSA-180292 GAB1 signalosome
R-HSA-180336 SHC1 events in EGFR signaling
R-HSA-182971 EGFR downregulation
R-HSA-1963640 GRB2 events in ERBB2 signaling
R-HSA-1963642 PI3K events in ERBB2 signaling
R-HSA-212718 EGFR interacts with phospholipase C-gamma
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5637810 Constitutive Signaling by EGFRvIII
R-HSA-5638303 Inhibition of Signaling by Overexpressed EGFR
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6785631 ERBB2 Regulates Cell Motility
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8847993 ERBB2 Activates PTK6 Signaling
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8863795 Downregulation of ERBB2 signaling
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P01133

SIGNOR Signaling Network Open Resource

More...SIGNORi		P01133

<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:
Pro-epidermal growth factor
Short name:
EGF
Cleaved into the following chain:
Epidermal growth factor
Alternative name(s):
Urogastrone
<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:EGF
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000138798.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:3229 EGF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		131530 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P01133

<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

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 domaini23 – 1032ExtracellularSequence analysisAdd BLAST1010
<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>Transmembranei1033 – 1053HelicalSequence analysisAdd BLAST21
Topological domaini1054 – 1207CytoplasmicSequence analysisAdd BLAST154

Keywords - Cellular componenti

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

Hypomagnesemia 4 (HOMG4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.
See also OMIM:611718
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_0394741070P → L in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation. 1 PublicationCorresponds to variant dbSNP:rs121434567EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary hypomagnesemia

Organism-specific databases

DisGeNET

More...DisGeNETi		1950

MalaCards human disease database

More...MalaCardsi		EGF
MIMi611718 phenotype

Open Targets

More...OpenTargetsi		ENSG00000138798

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

More...Orphaneti		210159 Adult hepatocellular carcinoma
34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27664

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5734

Drug and drug target database

More...DrugBanki		DB04454 Alpha-Aminobutyric Acid
DB00364 Sucralfate
DB05007 XL647

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EGF

Domain mapping of disease mutations (DMDM)

More...DMDMi		251757262

<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 – 22Sequence analysisAdd BLAST22
<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_000000754023 – 1207Pro-epidermal growth factorAdd BLAST1185
ChainiPRO_0000007541971 – 1023Epidermal growth factorAdd BLAST53

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi38N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi104N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi117N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi148N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi318 ↔ 330PROSITE-ProRule annotation
Glycosylationi324N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi325 ↔ 339PROSITE-ProRule annotation
Disulfide bondi341 ↔ 354PROSITE-ProRule annotation
Disulfide bondi360 ↔ 371PROSITE-ProRule annotation
Disulfide bondi367 ↔ 380PROSITE-ProRule annotation
Disulfide bondi382 ↔ 395PROSITE-ProRule annotation
Disulfide bondi401 ↔ 412PROSITE-ProRule annotation
Glycosylationi404N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi408 ↔ 421PROSITE-ProRule annotation
Disulfide bondi423 ↔ 436PROSITE-ProRule annotation
Disulfide bondi439 ↔ 451PROSITE-ProRule annotation
Disulfide bondi447 ↔ 461PROSITE-ProRule annotation
Disulfide bondi463 ↔ 476PROSITE-ProRule annotation
Glycosylationi596N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi745 ↔ 756PROSITE-ProRule annotation
Disulfide bondi752 ↔ 765PROSITE-ProRule annotation
Disulfide bondi767 ↔ 780PROSITE-ProRule annotation
Glycosylationi815N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi835 ↔ 846PROSITE-ProRule annotation
Disulfide bondi840 ↔ 855PROSITE-ProRule annotation
Disulfide bondi857 ↔ 868PROSITE-ProRule annotation
Disulfide bondi874 ↔ 888PROSITE-ProRule annotation
Disulfide bondi881 ↔ 897PROSITE-ProRule annotation
Disulfide bondi899 ↔ 910PROSITE-ProRule annotation
Disulfide bondi916 ↔ 929PROSITE-ProRule annotation
Disulfide bondi923 ↔ 938PROSITE-ProRule annotation
Glycosylationi926N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi940 ↔ 951PROSITE-ProRule annotation
Disulfide bondi976 ↔ 990
Disulfide bondi984 ↔ 1001
Disulfide bondi1003 ↔ 1012

<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

O-glycosylated with core 1-like and core 2-like glycans. It is uncertain if Ser-954 or Thr-955 is O-glycosylated. The modification here shows glycan heterogeneity: HexHexNAc (major) and Hex2HexNAc2 (minor).1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P01133

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

More...PaxDbi		P01133

PeptideAtlas

More...PeptideAtlasi		P01133

PRoteomics IDEntifications database

More...PRIDEi		P01133

ProteomicsDB human proteome resource

More...ProteomicsDBi		12632 [P01133-2]
51330
51331 [P01133-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		709

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P01133

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

More...PhosphoSitePlusi		P01133

UniCarbKB; an annotated and curated database of glycan structures

More...UniCarbKBi		P01133

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		P01133

<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 kidney, salivary gland, cerebrum and prostate.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000138798 Expressed in 147 organ(s), highest expression level in renal medulla

CleanEx database of gene expression profiles

More...CleanExi		HS_EGF

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P01133 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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with EGFR and promotes EGFR dimerization. Interacts with RHBDF2 (By similarity). Interacts with RHBDF1; may retain EGF in the endoplasmic reticulum and regulates its degradation through the endoplasmic reticulum-associated degradation (ERAD).By similarity5 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

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108270, 16 interactors

Database of interacting proteins

More...DIPi		DIP-5767N

Protein interaction database and analysis system

More...IntActi		P01133, 9 interactors

Molecular INTeraction database

More...MINTi		P01133

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265171

<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

11207
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
1IVOX-ray3.30C/D971-1023[»]
1JL9X-ray3.00A/B971-1021[»]
1NQLX-ray2.80B971-1023[»]
1P9JNMR-A976-1022[»]
2KV4NMR-A971-1023[»]
3NJPX-ray3.30C/D975-1021[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P01133

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

More...SMRi		P01133

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		P01133

<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>Repeati86 – 127LDL-receptor class B 1Add BLAST42
Repeati128 – 169LDL-receptor class B 2Add BLAST42
Repeati170 – 211LDL-receptor class B 3Add BLAST42
Repeati212 – 258LDL-receptor class B 4Add BLAST47
<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>Domaini314 – 355EGF-like 1PROSITE-ProRule annotationAdd BLAST42
Domaini356 – 396EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini397 – 437EGF-like 3PROSITE-ProRule annotationAdd BLAST41
Domaini435 – 477EGF-like 4PROSITE-ProRule annotationAdd BLAST43
Repeati483 – 523LDL-receptor class B 5Add BLAST41
Repeati524 – 566LDL-receptor class B 6Add BLAST43
Repeati567 – 609LDL-receptor class B 7Add BLAST43
Repeati610 – 653LDL-receptor class B 8Add BLAST44
Repeati654 – 696LDL-receptor class B 9Add BLAST43
Domaini741 – 781EGF-like 5PROSITE-ProRule annotationAdd BLAST41
Domaini831 – 869EGF-like 6PROSITE-ProRule annotationAdd BLAST39
Domaini870 – 911EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini912 – 952EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini972 – 1013EGF-like 9PROSITE-ProRule annotationAdd BLAST42

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>Regioni801 – 807O-glycosylated at one site7

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IPSY Eukaryota
ENOG410ZVIM LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158366

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000112345

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG003858

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P01133

KEGG Orthology (KO)

More...KOi		K04357

Identification of Orthologs from Complete Genome Data

More...OMAi		LPDRKTC

Database of Orthologous Groups

More...OrthoDBi		1174178at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P01133

TreeFam database of animal gene trees

More...TreeFami		TF315253

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.120.10.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR000033 LDLR_classB_rpt
IPR016317 Pro-epidermal_GF

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00008 EGF, 1 hit
PF07645 EGF_CA, 3 hits
PF00058 Ldl_recept_b, 4 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF001778 Pro-epidermal_growth_factor, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00181 EGF, 9 hits
SM00179 EGF_CA, 5 hits
SM00135 LY, 9 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57184 SSF57184, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00010 ASX_HYDROXYL, 3 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 7 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 3 hits
PS51120 LDLRB, 9 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>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P01133-1) [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.

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        10         20         30         40         50
MLLTLIILLP VVSKFSFVSL SAPQHWSCPE GTLAGNGNST CVGPAPFLIF 
        60         70         80         90        100
SHGNSIFRID TEGTNYEQLV VDAGVSVIMD FHYNEKRIYW VDLERQLLQR 
       110        120        130        140        150
VFLNGSRQER VCNIEKNVSG MAINWINEEV IWSNQQEGII TVTDMKGNNS 
       160        170        180        190        200
HILLSALKYP ANVAVDPVER FIFWSSEVAG SLYRADLDGV GVKALLETSE 
       210        220        230        240        250
KITAVSLDVL DKRLFWIQYN REGSNSLICS CDYDGGSVHI SKHPTQHNLF 
       260        270        280        290        300
AMSLFGDRIF YSTWKMKTIW IANKHTGKDM VRINLHSSFV PLGELKVVHP 
       310        320        330        340        350
LAQPKAEDDT WEPEQKLCKL RKGNCSSTVC GQDLQSHLCM CAEGYALSRD 
       360        370        380        390        400
RKYCEDVNEC AFWNHGCTLG CKNTPGSYYC TCPVGFVLLP DGKRCHQLVS 
       410        420        430        440        450
CPRNVSECSH DCVLTSEGPL CFCPEGSVLE RDGKTCSGCS SPDNGGCSQL 
       460        470        480        490        500
CVPLSPVSWE CDCFPGYDLQ LDEKSCAASG PQPFLLFANS QDIRHMHFDG 
       510        520        530        540        550
TDYGTLLSQQ MGMVYALDHD PVENKIYFAH TALKWIERAN MDGSQRERLI 
       560        570        580        590        600
EEGVDVPEGL AVDWIGRRFY WTDRGKSLIG RSDLNGKRSK IITKENISQP 
       610        620        630        640        650
RGIAVHPMAK RLFWTDTGIN PRIESSSLQG LGRLVIASSD LIWPSGITID 
       660        670        680        690        700
FLTDKLYWCD AKQSVIEMAN LDGSKRRRLT QNDVGHPFAV AVFEDYVWFS 
       710        720        730        740        750
DWAMPSVMRV NKRTGKDRVR LQGSMLKPSS LVVVHPLAKP GADPCLYQNG 
       760        770        780        790        800
GCEHICKKRL GTAWCSCREG FMKASDGKTC LALDGHQLLA GGEVDLKNQV 
       810        820        830        840        850
TPLDILSKTR VSEDNITESQ HMLVAEIMVS DQDDCAPVGC SMYARCISEG 
       860        870        880        890        900
EDATCQCLKG FAGDGKLCSD IDECEMGVPV CPPASSKCIN TEGGYVCRCS 
       910        920        930        940        950
EGYQGDGIHC LDIDECQLGE HSCGENASCT NTEGGYTCMC AGRLSEPGLI 
       960        970        980        990       1000
CPDSTPPPHL REDDHHYSVR NSDSECPLSH DGYCLHDGVC MYIEALDKYA 
      1010       1020       1030       1040       1050
CNCVVGYIGE RCQYRDLKWW ELRHAGHGQQ QKVIVVAVCV VVLVMLLLLS 
      1060       1070       1080       1090       1100
LWGAHYYRTQ KLLSKNPKNP YEESSRDVRS RRPADTEDGM SSCPQPWFVV 
      1110       1120       1130       1140       1150
IKEHQDLKNG GQPVAGEDGQ AADGSMQPTS WRQEPQLCGM GTEQGCWIPV 
      1160       1170       1180       1190       1200
SSDKGSCPQV MERSFHMPSY GTQTLEGGVE KPHSLLSANP LWQQRALDPP 

HQMELTQ
Length:1,207
Mass (Da):133,994
Last modified:July 7, 2009 - v2
<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:i3C787F1D405CFAF1
GO
Isoform 2 (identifier: P01133-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     314-355: Missing.

Show »
Length:1,165
Mass (Da):129,256
Checksum:i5449AE11FA9276B5
GO
Isoform 3 (identifier: P01133-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     912-952: Missing.

Note: No experimental confirmation available. Gene prediction based on cDNA data.
Show »
Length:1,166
Mass (Da):129,746
Checksum:i4872256969C28678
GO

<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 AAR84237 differs from that shown. Reason: Erroneous gene model prediction.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 conflicti302A → T in BAG61319 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02016116S → R1 PublicationCorresponds to variant dbSNP:rs11568849EnsemblClinVar.1
Natural variantiVAR_033825151H → Y. Corresponds to variant dbSNP:rs9991664EnsemblClinVar.1
Natural variantiVAR_020968257D → H1 PublicationCorresponds to variant dbSNP:rs11568911EnsemblClinVar.1
Natural variantiVAR_033826292L → H. Corresponds to variant dbSNP:rs35191533Ensembl.1
Natural variantiVAR_020162431R → K1 PublicationCorresponds to variant dbSNP:rs11568943EnsemblClinVar.1
Natural variantiVAR_020969638S → R1 PublicationCorresponds to variant dbSNP:rs11568992Ensembl.1
Natural variantiVAR_002275708M → I1 PublicationCorresponds to variant dbSNP:rs2237051EnsemblClinVar.1
Natural variantiVAR_020163723G → R. Corresponds to variant dbSNP:rs6413481Ensembl.1
Natural variantiVAR_020164784D → V1 PublicationCorresponds to variant dbSNP:rs11569017EnsemblClinVar.1
Natural variantiVAR_020165842M → T1 PublicationCorresponds to variant dbSNP:rs11569046EnsemblClinVar.1
Natural variantiVAR_020970920E → V2 PublicationsCorresponds to variant dbSNP:rs4698803EnsemblClinVar.1
Natural variantiVAR_020971981D → E1 PublicationCorresponds to variant dbSNP:rs11569086Ensembl.1
Natural variantiVAR_0201661043L → F1 PublicationCorresponds to variant dbSNP:rs11569098EnsemblClinVar.1
Natural variantiVAR_0394741070P → L in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation. 1 PublicationCorresponds to variant dbSNP:rs121434567EnsemblClinVar.1
Natural variantiVAR_0209721084A → G1 PublicationCorresponds to variant dbSNP:rs11569111Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_041586314 – 355Missing in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_047190912 – 952Missing in isoform 3. CuratedAdd BLAST41

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
X04571 mRNA Translation: CAA28240.1
AY506357 Genomic DNA Translation: AAR84237.1 Sequence problems.
AK299306 mRNA Translation: BAG61319.1
AC004050 Genomic DNA No translation available.
AC005509 Genomic DNA No translation available.
BC093731 mRNA Translation: AAH93731.1
BC113461 mRNA Translation: AAI13462.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3689.1 [P01133-1]
CCDS54794.1 [P01133-3]
CCDS54795.1 [P01133-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A25531 EGHU

NCBI Reference Sequences

More...RefSeqi		NP_001171601.1, NM_001178130.2 [P01133-3]
NP_001171602.1, NM_001178131.2 [P01133-2]
NP_001954.2, NM_001963.5 [P01133-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.419815

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265171; ENSP00000265171; ENSG00000138798 [P01133-1]
ENST00000503392; ENSP00000421384; ENSG00000138798 [P01133-3]
ENST00000509793; ENSP00000424316; ENSG00000138798 [P01133-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1950

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1950

UCSC genome browser

More...UCSCi		uc003hzy.5 human [P01133-1]

Keywords - Coding sequence diversityi

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

<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

NIEHS-SNPs
Wikipedia

Epidermal growth factor entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04571 mRNA Translation: CAA28240.1
AY506357 Genomic DNA Translation: AAR84237.1 Sequence problems.
AK299306 mRNA Translation: BAG61319.1
AC004050 Genomic DNA No translation available.
AC005509 Genomic DNA No translation available.
BC093731 mRNA Translation: AAH93731.1
BC113461 mRNA Translation: AAI13462.1
CCDSiCCDS3689.1 [P01133-1]
CCDS54794.1 [P01133-3]
CCDS54795.1 [P01133-2]
PIRiA25531 EGHU
RefSeqiNP_001171601.1, NM_001178130.2 [P01133-3]
NP_001171602.1, NM_001178131.2 [P01133-2]
NP_001954.2, NM_001963.5 [P01133-1]
UniGeneiHs.419815

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IVOX-ray3.30C/D971-1023[»]
1JL9X-ray3.00A/B971-1021[»]
1NQLX-ray2.80B971-1023[»]
1P9JNMR-A976-1022[»]
2KV4NMR-A971-1023[»]
3NJPX-ray3.30C/D975-1021[»]
ProteinModelPortaliP01133
SMRiP01133
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108270, 16 interactors
DIPiDIP-5767N
IntActiP01133, 9 interactors
MINTiP01133
STRINGi9606.ENSP00000265171

Chemistry databases

ChEMBLiCHEMBL5734
DrugBankiDB04454 Alpha-Aminobutyric Acid
DB00364 Sucralfate
DB05007 XL647

PTM databases

GlyConnecti709
iPTMnetiP01133
PhosphoSitePlusiP01133
UniCarbKBiP01133

Polymorphism and mutation databases

BioMutaiEGF
DMDMi251757262

Proteomic databases

jPOSTiP01133
PaxDbiP01133
PeptideAtlasiP01133
PRIDEiP01133
ProteomicsDBi12632 [P01133-2]
51330
51331 [P01133-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265171; ENSP00000265171; ENSG00000138798 [P01133-1]
ENST00000503392; ENSP00000421384; ENSG00000138798 [P01133-3]
ENST00000509793; ENSP00000424316; ENSG00000138798 [P01133-2]
GeneIDi1950
KEGGihsa:1950
UCSCiuc003hzy.5 human [P01133-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1950
DisGeNETi1950
EuPathDBiHostDB:ENSG00000138798.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		EGF
HGNCiHGNC:3229 EGF
MalaCardsiEGF
MIMi131530 gene
611718 phenotype
neXtProtiNX_P01133
OpenTargetsiENSG00000138798
Orphaneti210159 Adult hepatocellular carcinoma
34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia
PharmGKBiPA27664

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IPSY Eukaryota
ENOG410ZVIM LUCA
GeneTreeiENSGT00940000158366
HOGENOMiHOG000112345
HOVERGENiHBG003858
InParanoidiP01133
KOiK04357
OMAiLPDRKTC
OrthoDBi1174178at2759
PhylomeDBiP01133
TreeFamiTF315253

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-1227986 Signaling by ERBB2
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-1236394 Signaling by ERBB4
R-HSA-1250196 SHC1 events in ERBB2 signaling
R-HSA-1251932 PLCG1 events in ERBB2 signaling
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-177929 Signaling by EGFR
R-HSA-179812 GRB2 events in EGFR signaling
R-HSA-180292 GAB1 signalosome
R-HSA-180336 SHC1 events in EGFR signaling
R-HSA-182971 EGFR downregulation
R-HSA-1963640 GRB2 events in ERBB2 signaling
R-HSA-1963642 PI3K events in ERBB2 signaling
R-HSA-212718 EGFR interacts with phospholipase C-gamma
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5637810 Constitutive Signaling by EGFRvIII
R-HSA-5638303 Inhibition of Signaling by Overexpressed EGFR
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6785631 ERBB2 Regulates Cell Motility
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8847993 ERBB2 Activates PTK6 Signaling
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8863795 Downregulation of ERBB2 signaling
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
SignaLinkiP01133
SIGNORiP01133

Miscellaneous databases

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

More...ChiTaRSi		EGF human
EvolutionaryTraceiP01133

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Epidermal_growth_factor

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

More...GenomeRNAii		1950
PMAP-CutDBiP01133

Protein Ontology

More...PROi		PR:P01133

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000138798 Expressed in 147 organ(s), highest expression level in renal medulla
CleanExiHS_EGF
GenevisibleiP01133 HS

Family and domain databases

Gene3Di2.120.10.30, 2 hits
InterProiView protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR000033 LDLR_classB_rpt
IPR016317 Pro-epidermal_GF
PfamiView protein in Pfam
PF00008 EGF, 1 hit
PF07645 EGF_CA, 3 hits
PF00058 Ldl_recept_b, 4 hits
PIRSFiPIRSF001778 Pro-epidermal_growth_factor, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 9 hits
SM00179 EGF_CA, 5 hits
SM00135 LY, 9 hits
SUPFAMiSSF57184 SSF57184, 2 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 3 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 7 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 3 hits
PS51120 LDLRB, 9 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 nameiEGF_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: P01133
Secondary accession number(s): B4DRK7
, E7EVD2, E9PBF0, Q52LZ6
<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: July 7, 2009
Last modified: January 16, 2019
This is version 211 of the entry and version 2 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
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