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Entry version 196 (05 Jun 2019)
Sequence version 2 (01 Dec 2000)
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Protein

EGF-containing fibulin-like extracellular matrix protein 1

Gene

EFEMP1

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

Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.3 Publications

Miscellaneous

Up-regulated in malignant gliomas. May increase glioma cell adhesiveness and invasive properties.

<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

GO - Biological processi

<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
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2129379 Molecules associated with elastic fibres

<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:
EGF-containing fibulin-like extracellular matrix protein 1
Alternative name(s):
Extracellular protein S1-5
Fibrillin-like protein
Fibulin-3
Short name:
FIBL-3
<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:EFEMP1
Synonyms:FBLN3, FBNL
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3218 EFEMP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601548 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12805

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, 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

Doyne honeycomb retinal dystrophy (DHRD)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.
Related information in OMIM
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_009513345R → W in DHRD; misfolded, accumulates in cells due to inefficient secretion; induces the formation of deposits between Bruch's membrane and the retinal pigment epithelium where it accumulates. 4 PublicationsCorresponds to variant dbSNP:rs121434491EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2202

MalaCards human disease database

More...
MalaCardsi
EFEMP1
MIMi126600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115380

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

More...
Orphaneti
75376 Familial drusen

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27652

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFEMP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
9973182

<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 – 17Sequence analysisAdd BLAST17
<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_000000757018 – 493EGF-containing fibulin-like extracellular matrix protein 1Add BLAST476

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 bondi177 ↔ 190PROSITE-ProRule annotation
Disulfide bondi184 ↔ 199PROSITE-ProRule annotation
Disulfide bondi201 ↔ 212PROSITE-ProRule annotation
Disulfide bondi218 ↔ 228PROSITE-ProRule annotation
Disulfide bondi224 ↔ 237PROSITE-ProRule annotation
Disulfide bondi239 ↔ 252PROSITE-ProRule annotation
<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>Glycosylationi249N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi258 ↔ 268PROSITE-ProRule annotation
Disulfide bondi264 ↔ 277PROSITE-ProRule annotation
Disulfide bondi279 ↔ 292PROSITE-ProRule annotation
Disulfide bondi298 ↔ 309PROSITE-ProRule annotation
Disulfide bondi305 ↔ 318PROSITE-ProRule annotation
Disulfide bondi320 ↔ 332PROSITE-ProRule annotation
Disulfide bondi338 ↔ 350PROSITE-ProRule annotation
Disulfide bondi344 ↔ 359PROSITE-ProRule annotation
Disulfide bondi365 ↔ 377PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q12805

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q12805

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q12805

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

More...
PaxDbi
Q12805

PeptideAtlas

More...
PeptideAtlasi
Q12805

PRoteomics IDEntifications database

More...
PRIDEi
Q12805

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58959
58960 [Q12805-2]
58961 [Q12805-3]
58962 [Q12805-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q12805

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

More...
PhosphoSitePlusi
Q12805

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q12805

<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

In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115380 Expressed in 226 organ(s), highest expression level in thoracic aorta

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q12805 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q12805 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB016368
HPA049806
HPA070841
HPA071588

<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 ECM1. Interacts with TIMP3.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108496, 60 interactors

Protein interaction database and analysis system

More...
IntActi
Q12805, 61 interactors

Molecular INTeraction database

More...
MINTi
Q12805

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378058

<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

3D structure databases

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

More...
SMRi
Q12805

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini26 – 71EGF-like 1; atypicalPROSITE-ProRule annotationAdd BLAST46
Domaini173 – 213EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini214 – 253EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini254 – 293EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini294 – 333EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini334 – 378EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST45

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>Regioni259 – 493Mediates interaction with TIMP31 PublicationAdd BLAST235

<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 fibulin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR77 Eukaryota
ENOG410YCRW LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157837

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234337

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q12805

KEGG Orthology (KO)

More...
KOi
K18262

Identification of Orthologs from Complete Genome Data

More...
OMAi
YKYMSIQ

Database of Orthologous Groups

More...
OrthoDBi
1174178at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q12805

TreeFam database of animal gene trees

More...
TreeFami
TF317514

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026823 cEGF
IPR032973 EFEMP1
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

The PANTHER Classification System

More...
PANTHERi
PTHR24034:SF102 PTHR24034:SF102, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184 SSF57184, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 4 hits
PS01187 EGF_CA, 6 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)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 5 <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
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 5 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12805-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI
60 70 80 90 100
VPDACKGGMK CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG
110 120 130 140 150
VVAASSMATS GVLPGGGFVA SAAAVAGPEM QTGRNNFVIR RNPADPQRIP
160 170 180 190 200
SNPSHRIQCA AGYEQSEHNV CQDIDECTAG THNCRADQVC INLRGSFACQ
210 220 230 240 250
CPPGYQKRGE QCVDIDECTI PPYCHQRCVN TPGSFYCQCS PGFQLAANNY
260 270 280 290 300
TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT
310 320 330 340 350
SSYLCQYQCV NEPGKFSCMC PQGYQVVRSR TCQDINECET TNECREDEMC
360 370 380 390 400
WNYHGGFRCY PRNPCQDPYI LTPENRCVCP VSNAMCRELP QSIVYKYMSI
410 420 430 440 450
RSDRSVPSDI FQIQATTIYA NTINTFRIKS GNENGEFYLR QTSPVSAMLV
460 470 480 490
LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS VLRLTIIVGP FSF
Length:493
Mass (Da):54,641
Last modified:December 1, 2000 - 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:i128CA5ED140DF414
GO
Isoform 2 (identifier: Q12805-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: Missing.

Show »
Length:485
Mass (Da):53,722
Checksum:iCF3DF7CCD89C58AC
GO
Isoform 3 (identifier: Q12805-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: Missing.

Show »
Length:492
Mass (Da):54,583
Checksum:iFD09CF260582EA63
GO
Isoform 4 (identifier: Q12805-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-106: Missing.

Show »
Length:492
Mass (Da):54,553
Checksum:iEF7B59437CAA3C67
GO
Isoform 5 (identifier: Q12805-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.
     214-293: Missing.

Note: No experimental confirmation available.
Show »
Length:355
Mass (Da):39,195
Checksum:i3E9B55D15D9331EE
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J4J8C9J4J8_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
106Annotation 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>
Q580Q6Q580Q6_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
172Annotation 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>
C9JPZ9C9JPZ9_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
119Annotation 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>
C9JQX7C9JQX7_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
87Annotation 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>
A0A0U1RQV3A0A0U1RQV3_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
280Annotation 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>
C9JUM4C9JUM4_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
61Annotation 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>
C9J8S9C9J8S9_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
51Annotation 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>
A0A0U1RRL0A0A0U1RRL0_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
46Annotation 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>
C9J4H7C9J4H7_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
27Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009512220I → F1 PublicationCorresponds to variant dbSNP:rs748965004Ensembl.1
Natural variantiVAR_009513345R → W in DHRD; misfolded, accumulates in cells due to inefficient secretion; induces the formation of deposits between Bruch's membrane and the retinal pigment epithelium where it accumulates. 4 PublicationsCorresponds to variant dbSNP:rs121434491EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0543721 – 58Missing in isoform 5. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_0013921 – 8Missing in isoform 2. Curated8
Alternative sequenceiVSP_00139358Missing in isoform 3. Curated1
Alternative sequenceiVSP_001394106Missing in isoform 4. Curated1
Alternative sequenceiVSP_054373214 – 293Missing in isoform 5. 1 PublicationAdd BLAST80

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U03877 mRNA Translation: AAA65590.1
AY004330
, AY004321, AY004322, AY004325, AY004324, AY004323, AY004326, AY004328, AY004329, AY004327 Genomic DNA Translation: AAK11491.1
AK290599 mRNA Translation: BAF83288.1
AK301402 mRNA Translation: BAG62937.1
AC010895 Genomic DNA No translation available.
AC096549 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00080.1
CH471053 Genomic DNA Translation: EAX00081.1
CH471053 Genomic DNA Translation: EAX00082.1
BC014410 mRNA Translation: AAH14410.1
BC098561 mRNA Translation: AAH98561.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1857.1 [Q12805-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I38449

NCBI Reference Sequences

More...
RefSeqi
NP_001034437.1, NM_001039348.2 [Q12805-1]
NP_001034438.1, NM_001039349.2 [Q12805-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355426; ENSP00000347596; ENSG00000115380 [Q12805-1]
ENST00000394555; ENSP00000378058; ENSG00000115380 [Q12805-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2202

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2202

UCSC genome browser

More...
UCSCi
uc002rzi.4 human [Q12805-1]

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

Mutations of the EFEMP1 gene

Retina International's Scientific Newsletter

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03877 mRNA Translation: AAA65590.1
AY004330
, AY004321, AY004322, AY004325, AY004324, AY004323, AY004326, AY004328, AY004329, AY004327 Genomic DNA Translation: AAK11491.1
AK290599 mRNA Translation: BAF83288.1
AK301402 mRNA Translation: BAG62937.1
AC010895 Genomic DNA No translation available.
AC096549 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00080.1
CH471053 Genomic DNA Translation: EAX00081.1
CH471053 Genomic DNA Translation: EAX00082.1
BC014410 mRNA Translation: AAH14410.1
BC098561 mRNA Translation: AAH98561.1
CCDSiCCDS1857.1 [Q12805-1]
PIRiI38449
RefSeqiNP_001034437.1, NM_001039348.2 [Q12805-1]
NP_001034438.1, NM_001039349.2 [Q12805-1]

3D structure databases

SMRiQ12805
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108496, 60 interactors
IntActiQ12805, 61 interactors
MINTiQ12805
STRINGi9606.ENSP00000378058

PTM databases

iPTMnetiQ12805
PhosphoSitePlusiQ12805
SwissPalmiQ12805

Polymorphism and mutation databases

BioMutaiEFEMP1
DMDMi9973182

Proteomic databases

EPDiQ12805
jPOSTiQ12805
MaxQBiQ12805
PaxDbiQ12805
PeptideAtlasiQ12805
PRIDEiQ12805
ProteomicsDBi58959
58960 [Q12805-2]
58961 [Q12805-3]
58962 [Q12805-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2202
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355426; ENSP00000347596; ENSG00000115380 [Q12805-1]
ENST00000394555; ENSP00000378058; ENSG00000115380 [Q12805-1]
GeneIDi2202
KEGGihsa:2202
UCSCiuc002rzi.4 human [Q12805-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2202
DisGeNETi2202

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EFEMP1
HGNCiHGNC:3218 EFEMP1
HPAiCAB016368
HPA049806
HPA070841
HPA071588
MalaCardsiEFEMP1
MIMi126600 phenotype
601548 gene
neXtProtiNX_Q12805
OpenTargetsiENSG00000115380
Orphaneti75376 Familial drusen
PharmGKBiPA27652

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR77 Eukaryota
ENOG410YCRW LUCA
GeneTreeiENSGT00940000157837
HOGENOMiHOG000234337
InParanoidiQ12805
KOiK18262
OMAiYKYMSIQ
OrthoDBi1174178at2759
PhylomeDBiQ12805
TreeFamiTF317514

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

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

More...
ChiTaRSi
EFEMP1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EFEMP1

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

More...
GenomeRNAii
2202

Protein Ontology

More...
PROi
PR:Q12805

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115380 Expressed in 226 organ(s), highest expression level in thoracic aorta
ExpressionAtlasiQ12805 baseline and differential
GenevisibleiQ12805 HS

Family and domain databases

InterProiView protein in InterPro
IPR026823 cEGF
IPR032973 EFEMP1
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
PANTHERiPTHR24034:SF102 PTHR24034:SF102, 1 hit
PfamiView protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 3 hits
SMARTiView protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 6 hits
SUPFAMiSSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 4 hits
PS01187 EGF_CA, 6 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 nameiFBLN3_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: Q12805
Secondary accession number(s): A8K3I4
, B4DW75, D6W5D2, Q541U7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: June 5, 2019
This is version 196 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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