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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • epidermal growth factor-activated receptor activity Source: UniProtKB
  • epidermal growth factor receptor binding Source: UniProtKB

GO - Biological processi

  • camera-type eye development Source: UniProtKB
  • embryonic eye morphogenesis Source: UniProtKB
  • epidermal growth factor receptor signaling pathway Source: UniProtKB
  • negative regulation of chondrocyte differentiation Source: UniProtKB
  • peptidyl-tyrosine phosphorylation Source: UniProtKB
  • post-embryonic eye morphogenesis Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Growth factor

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115380-MONOMER.
ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Names & Taxonomyi

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
Gene namesi
Name:EFEMP1
Synonyms:FBLN3, FBNL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:3218. EFEMP1.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Doyne honeycomb retinal dystrophy (DHRD)2 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.
See also OMIM:126600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs121434491dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2202.
MalaCardsiEFEMP1.
MIMi126600. phenotype.
OpenTargetsiENSG00000115380.
Orphaneti75376. Familial drusen.
PharmGKBiPA27652.

Polymorphism and mutation databases

BioMutaiEFEMP1.
DMDMi9973182.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000000757018 – 493EGF-containing fibulin-like extracellular matrix protein 1Add BLAST476

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Glycosylationi249N-linked (GlcNAc...)Sequence 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

MaxQBiQ12805.
PaxDbiQ12805.
PeptideAtlasiQ12805.
PRIDEiQ12805.

PTM databases

iPTMnetiQ12805.
PhosphoSitePlusiQ12805.
SwissPalmiQ12805.

Expressioni

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

BgeeiENSG00000115380.
CleanExiHS_EFEMP1.
ExpressionAtlasiQ12805. baseline and differential.
GenevisibleiQ12805. HS.

Organism-specific databases

HPAiCAB016368.

Interactioni

Subunit structurei

Interacts with ECM1. Interacts with TIMP3.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Q9WMX22EBI-536772,EBI-6863748From a different organism.
ARAFP103983EBI-536772,EBI-365961
ATN1P542593EBI-536772,EBI-945980
BAG6P463793EBI-536772,EBI-347552
RIC8AQ9NPQ8-43EBI-536772,EBI-9091816
SGTAO437656EBI-536772,EBI-347996
TRAF2Q129335EBI-536772,EBI-355744
TXNDC5Q86UY03EBI-536772,EBI-2825190

GO - Molecular functioni

  • epidermal growth factor receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108496. 52 interactors.
IntActiQ12805. 32 interactors.
MINTiMINT-1466511.
STRINGi9606.ENSP00000347596.

Structurei

3D structure databases

ProteinModelPortaliQ12805.
SMRiQ12805.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Regioni259 – 493Mediates interaction with TIMP31 PublicationAdd BLAST235

Sequence similaritiesi

Belongs to the fibulin family.Curated
Contains 6 EGF-like domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR77. Eukaryota.
ENOG410YCRW. LUCA.
GeneTreeiENSGT00760000118806.
HOGENOMiHOG000234337.
HOVERGENiHBG051560.
InParanoidiQ12805.
KOiK18262.
OMAiVQTGRNN.
OrthoDBiEOG091G04QP.
PhylomeDBiQ12805.
TreeFamiTF317514.

Family and domain databases

InterProiIPR026823. 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_.
[Graphical view]
PANTHERiPTHR24044:SF310. PTHR24044:SF310. 2 hits.
PfamiPF12662. cEGF. 2 hits.
PF07645. EGF_CA. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 5 hits.
SM00179. EGF_CA. 6 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 4 hits.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 4 hits.
PS01187. EGF_CA. 6 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.
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
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009512220I → F.1 PublicationCorresponds to variant rs748965004dbSNPEnsembl.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 rs121434491dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.732348.
Hs.76224.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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]
UniGeneiHs.732348.
Hs.76224.

3D structure databases

ProteinModelPortaliQ12805.
SMRiQ12805.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108496. 52 interactors.
IntActiQ12805. 32 interactors.
MINTiMINT-1466511.
STRINGi9606.ENSP00000347596.

PTM databases

iPTMnetiQ12805.
PhosphoSitePlusiQ12805.
SwissPalmiQ12805.

Polymorphism and mutation databases

BioMutaiEFEMP1.
DMDMi9973182.

Proteomic databases

MaxQBiQ12805.
PaxDbiQ12805.
PeptideAtlasiQ12805.
PRIDEiQ12805.

Protocols and materials databases

DNASUi2202.
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

CTDi2202.
DisGeNETi2202.
GeneCardsiEFEMP1.
HGNCiHGNC:3218. EFEMP1.
HPAiCAB016368.
MalaCardsiEFEMP1.
MIMi126600. phenotype.
601548. gene.
neXtProtiNX_Q12805.
OpenTargetsiENSG00000115380.
Orphaneti75376. Familial drusen.
PharmGKBiPA27652.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR77. Eukaryota.
ENOG410YCRW. LUCA.
GeneTreeiENSGT00760000118806.
HOGENOMiHOG000234337.
HOVERGENiHBG051560.
InParanoidiQ12805.
KOiK18262.
OMAiVQTGRNN.
OrthoDBiEOG091G04QP.
PhylomeDBiQ12805.
TreeFamiTF317514.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115380-MONOMER.
ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Miscellaneous databases

ChiTaRSiEFEMP1. human.
GeneWikiiEFEMP1.
GenomeRNAii2202.
PROiQ12805.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115380.
CleanExiHS_EFEMP1.
ExpressionAtlasiQ12805. baseline and differential.
GenevisibleiQ12805. HS.

Family and domain databases

InterProiIPR026823. 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_.
[Graphical view]
PANTHERiPTHR24044:SF310. PTHR24044:SF310. 2 hits.
PfamiPF12662. cEGF. 2 hits.
PF07645. EGF_CA. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 5 hits.
SM00179. EGF_CA. 6 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 4 hits.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 4 hits.
PS01187. EGF_CA. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFBLN3_HUMAN
AccessioniPrimary (citable) accession number: Q12805
Secondary accession number(s): A8K3I4
, B4DW75, D6W5D2, Q541U7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: November 30, 2016
This is version 173 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.