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Protein

EGF-containing fibulin-like extracellular matrix protein 1

Gene

EFEMP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGrowth factor
LigandCalcium

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000115380.19
HGNCiHGNC:3218 EFEMP1
MIMi601548 gene
neXtProtiNX_Q12805

Subcellular locationi

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

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

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.
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 dbSNP:rs121434491EnsemblClinVar.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...) 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

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

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 Expressed in 226 organ(s), highest expression level in thoracic aorta
CleanExiHS_EFEMP1
ExpressionAtlasiQ12805 baseline and differential
GenevisibleiQ12805 HS

Organism-specific databases

HPAiCAB016368
HPA049806
HPA070841
HPA071588

Interactioni

Subunit structurei

Interacts with ECM1. Interacts with TIMP3.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108496, 57 interactors
IntActiQ12805, 55 interactors
MINTiQ12805
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

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

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

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
IPR037287 Fibulin_3/4/5
IPR009030 Growth_fac_rcpt_cys_sf
PANTHERiPTHR44074 PTHR44074, 1 hit
PTHR44074:SF2 PTHR44074:SF2, 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

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.

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
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

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q580Q6Q580Q6_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
172Annotation score:
C9JQX7C9JQX7_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
87Annotation score:
C9JPZ9C9JPZ9_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
119Annotation score:
C9J4J8C9J4J8_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
106Annotation score:
A0A0U1RQV3A0A0U1RQV3_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
280Annotation score:
C9JUM4C9JUM4_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
61Annotation score:
C9J8S9C9J8S9_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
51Annotation score:
A0A0U1RRL0A0A0U1RRL0_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
46Annotation score:
C9J4H7C9J4H7_HUMAN
EGF-containing fibulin-like extrace...
EFEMP1
27Annotation score:

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
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

Similar proteinsi

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, 57 interactors
IntActiQ12805, 55 interactors
MINTiQ12805
STRINGi9606.ENSP00000347596

PTM databases

iPTMnetiQ12805
PhosphoSitePlusiQ12805
SwissPalmiQ12805

Polymorphism and mutation databases

BioMutaiEFEMP1
DMDMi9973182

Proteomic databases

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

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
EuPathDBiHostDB:ENSG00000115380.19
GeneCardsiEFEMP1
HGNCiHGNC:3218 EFEMP1
HPAiCAB016368
HPA049806
HPA070841
HPA071588
MalaCardsiEFEMP1
MIMi126600 phenotype
601548 gene
neXtProtiNX_Q12805
OpenTargetsiENSG00000115380
Orphaneti75376 Familial drusen
PharmGKBiPA27652
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

ChiTaRSiEFEMP1 human
GeneWikiiEFEMP1
GenomeRNAii2202
PROiPR:Q12805
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115380 Expressed in 226 organ(s), highest expression level in thoracic aorta
CleanExiHS_EFEMP1
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
IPR037287 Fibulin_3/4/5
IPR009030 Growth_fac_rcpt_cys_sf
PANTHERiPTHR44074 PTHR44074, 1 hit
PTHR44074:SF2 PTHR44074:SF2, 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
ProtoNetiSearch...

Entry informationi

Entry nameiFBLN3_HUMAN
AccessioniPrimary (citable) accession number: Q12805
Secondary accession number(s): A8K3I4
, B4DW75, D6W5D2, Q541U7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: October 10, 2018
This is version 190 of the entry and version 2 of the sequence. See 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

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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