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Efemp1
Gene Detail
 Symbol
Name
ID
Efemp1
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
MGI:1339998
Feature Type protein coding gene
Genetic Map
Chromosome 11
16.32 cM, cytoband A4
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:28853204-28926743 bp, + strand
From VEGA annotation of GRCm38

  73540 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3028  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Efemp1

Human
homologs
Human Homolog EFEMP1, EGF containing fibulin-like extracellular matrix protein 1
NCBI Gene ID 2202
neXtProt AC  NX_Q12805
Human Synonyms  DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5
Human Chr (Location)  2p16; chr2:55865962-55924163 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human EFEMP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions in this gene display a normal phenotype. Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium.
 
Human Diseases Modeled Using Mouse Efemp1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Efemp1 interacts with 109 markers (Mir29a, Mir32, Mir96, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process epidermal growth factor receptor signaling pathway, negative regulation of chondrocyte differentiation, ...
Component extracellular matrix, extracellular region, ...
Function calcium ion binding, epidermal growth factor-activated receptor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (32)    Tissues (7)    Images (22)
Theiler Stages: 13, 15, 17, 23
Assay TypeResults
RNA in situ 26
RT-PCR 6
cDNA source data(29)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) cDNA(29) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000005315 (Evidence)
Ensembl Gene ModelENSMUSG00000020467 (Evidence)
Entrez Gene216616 (Evidence)
UniGene44176
DFCITC1581531
DoTSDT.486220
NIA Mouse Gene IndexU012400
Consensus CDS ProjectCCDS48761.1
International Mouse Knockout Project StatusEfemp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005315 VEGA Gene Model | MGI Sequence Detail 73540 C57BL/6J ±  kb
transcript OTTMUST00000011842 VEGA | MGI Sequence Detail 2037 Not Applicable 
polypeptide OTTMUSP00000005484 VEGA | MGI Sequence Detail 493 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(10) UniProt(5)
Polymorphisms SNPs within 2kb(613 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
Protein Ontology PR:000006913 EGF-containing fibulin-like extracellular matrix protein 1
References (Earliest) J:55512 Stone EM, et al., A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999 Jun;22(2):199-202
(Latest) J:203123 Garland DL, et al., Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. Hum Mol Genet. 2014 Jan 1;23(1):52-68
All references(43)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory