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Reviewed, UniProtKB/Swiss-Prot Q12805 (FBLN3_HUMAN)

Last modified July 7, 2009. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    EGF-containing fibulin-like extracellular matrix protein 1
Alternative name(s):
    Fibulin-3
      Short name=FIBL-3
    Fibrillin-like protein
    Extracellular protein S1-5
Gene names
Name: EFEMP1
Synonyms: FBLN3, FBNL
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length493 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Subcellular location

Secreted.

Involvement in disease

Defects in EFEMP1 are a cause of Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]; also known as malattia leventinese (MLVT OR ML). DHRD is an autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. Ref.6 Ref.7

Sequence similarities

Belongs to the fibulin family.

Contains 6 EGF-like domains.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainEGF-like domain
Repeat
Signal
   LigandCalcium
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processvisual perception Ref.6

Traceable author statement. Source: ProtInc

   Cellular componentproteinaceous extracellular matrix Ref.6

Traceable author statement. Source: ProtInc

   Molecular functioncalcium ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ARAFP103983EBI-536772,EBI-365961

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q12805-1)

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.
Isoform 2 (identifier: Q12805-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: Missing.
Isoform 3 (identifier: Q12805-3)

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: Missing.
Isoform 4 (identifier: Q12805-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 493476EGF-containing fibulin-like extracellular matrix protein 1
PRO_0000007570

Regions

Domain26 – 7146EGF-like 1; atypical
Domain173 – 21341EGF-like 2; calcium-binding Potential
Domain214 – 25340EGF-like 3; calcium-binding Potential
Domain254 – 29340EGF-like 4; calcium-binding Potential
Domain294 – 33340EGF-like 5; calcium-binding Potential
Domain334 – 37845EGF-like 6; calcium-binding Potential

Amino acid modifications

Glycosylation2491N-linked (GlcNAc...) Potential
Disulfide bond177 ↔ 190 By similarity
Disulfide bond184 ↔ 199 By similarity
Disulfide bond201 ↔ 212 By similarity
Disulfide bond218 ↔ 228 By similarity
Disulfide bond224 ↔ 237 By similarity
Disulfide bond239 ↔ 252 By similarity
Disulfide bond258 ↔ 268 By similarity
Disulfide bond264 ↔ 277 By similarity
Disulfide bond279 ↔ 292 By similarity
Disulfide bond298 ↔ 309 By similarity
Disulfide bond305 ↔ 318 By similarity
Disulfide bond320 ↔ 332 By similarity
Disulfide bond338 ↔ 350 By similarity
Disulfide bond344 ↔ 359 By similarity
Disulfide bond365 ↔ 377 By similarity

Natural variations

Alternative sequence1 – 88Missing in isoform 2.
VSP_001392
Alternative sequence581Missing in isoform 3.
VSP_001393
Alternative sequence1061Missing in isoform 4.
VSP_001394
Natural variant2201I → F Ref.6
VAR_009512
Natural variant3451R → W in DHRD. Ref.6 Ref.7
VAR_009513

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: 128CA5ED140DF414

FASTA49354,641
        10         20         30         40         50         60 
MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK 

        70         80         90        100        110        120 
CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA 

       130        140        150        160        170        180 
SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG 

       190        200        210        220        230        240 
THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECTI PPYCHQRCVN TPGSFYCQCS 

       250        260        270        280        290        300 
PGFQLAANNY TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT 

       310        320        330        340        350        360 
SSYLCQYQCV NEPGKFSCMC PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY 

       370        380        390        400        410        420 
PRNPCQDPYI LTPENRCVCP VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTIYA 

       430        440        450        460        470        480 
NTINTFRIKS GNENGEFYLR QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS 

       490 
VLRLTIIVGP FSF 

« Hide

Isoform 2.

Checksum: CF3DF7CCD89C58AC
Show »

FASTA48553,722
Isoform 3.

Checksum: FD09CF260582EA63
Show »

FASTA49254,583
Isoform 4.

Checksum: EF7B59437CAA3C67
Show »

FASTA49254,553

References

« Hide 'large scale' references
[1]"An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis."
Lecka-Czernik B., Lumpkin C.K. Jr., Goldstein S.
Mol. Cell. Biol. 15:120-128(1995) [PubMed: 7799918] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE ALTERNATIVE SPLICING.
Tissue: Skin.
[2]"Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin."
Ikegawa S., Toda T., Okui K., Nakamura Y.
Genomics 35:590-592(1996) [PubMed: 8812496] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4."
Giltay R., Timpl R., Kostka G.
Matrix Biol. 18:469-480(1999) [PubMed: 10601734] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"EFEMP1 is not associated with sporadic early onset drusen."
Sauer C.G., White K., Kellner U., Rudolph G., Jurklies B., Pauleikhoff D., Weber B.H.
Ophthalmic Genet. 22:27-34(2001) [PubMed: 11262647] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[6]"A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy."
Stone E.M., Lotery A.J., Munier F.L., Heon E., Piguet B., Guymer R.H., Vandenburgh K., Cousin P., Nishimura D., Swiderski R.E., Silvestri G., Mackey D.A., Hagerman G.S., Bird A.C., Sheffield V.C., Schorderet D.F.
Nat. Genet. 22:199-202(1999) [PubMed: 10369267] [Abstract]
Cited for: VARIANT DHRD TRP-345, VARIANT PHE-220.
[7]"Dominant radial drusen and Arg345Trp EFEMP1 mutation."
Matsumoto M., Traboulsi E.I.
Am. J. Ophthalmol. 131:810-812(2001) [PubMed: 11384588] [Abstract]
Cited for: VARIANT DHRD TRP-345.
+Additional computationally mapped references.

Web resources

Mutations of the EFEMP1 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

U03877 mRNA. Translation: AAA65590.1.
AY004330 expand/collapse EMBL AC list , AY004321, AY004322, AY004325, AY004324, AY004323, AY004326, AY004328, AY004329, AY004327 Genomic DNA. Translation: AAK11491.1.
BC014410 mRNA. Translation: AAH14410.1.
BC098561 mRNA. Translation: AAH98561.1.
IPIIPI00029658.
IPI00220813.
IPI00220814.
IPI00220815.
PIRI38449.
RefSeqNP_001034437.1.
NP_001034438.1.
NP_004096.2.
UniGeneHs.76224

3D structure databases

HSSPHSSP built from PDB template 1EMN based on UniProtKB P35555.
ModBaseSearch...

Protein-protein interaction databases

IntActQ12805. 6 interactions.

Proteomic databases

PRIDEQ12805.

Genome annotation databases

EnsemblENSG00000115380. Homo sapiens. [Contig view]
GeneID2202.
KEGGhsa:2202.
UCSCuc002rzh.1. human.

Organism-specific databases

GeneCardsGC02M056004.
H-InvDBHIX0002067.
HGNCHGNC:3218. EFEMP1.
MIM126600. phenotype.
601548. gene.
Orphanet99005. Doyne honeycomb retinal dystrophy (DHRD).
PharmGKBPA27652.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ12805.
HOVERGENQ12805.
OMAQ12805. VQTGRNN.

Gene expression databases

ArrayExpressQ12805.
BgeeQ12805.
CleanExHS_EFEMP1.
GermOnlineENSG00000115380. Homo sapiens.

Family and domain databases

InterProIPR013032. EGF-like_reg_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_CS.
IPR000742. EGF_3.
IPR001881. EGF_Ca_bd.
IPR013091. EGF_Ca_bd_2.
IPR018097. EGF_Ca_bd_CS.
[Graphical view]
PfamPF07645. EGF_CA. 6 hits.
[Graphical view]
SMARTSM00179. EGF_CA. 4 hits.
[Graphical view]
PROSITEPS00010. ASX_HYDROXYL. 4 hits.
PS00022. EGF_1. False negative.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 4 hits.
PS01187. EGF_CA. 6 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio8899.
SOURCESearch...

Entry information

Entry nameFBLN3_HUMAN
AccessionPrimary (citable) accession number: Q12805
Secondary accession number(s): Q541U7
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: July 7, 2009
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents