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; 2 chimpanzee; 1 cattle; 1 dog; 1 chicken; 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; chr2:56093097-56151298 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EFEMP1

Alleles and phenotypes

All alleles(7) : Targeted(7)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (12 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 Type	Results
RNA in situ	26
RT-PCR	6

cDNA source data(29)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(30) cDNA(29) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000005315 (Evidence)
Ensembl Gene Model	ENSMUSG00000020467 (Evidence)
Entrez Gene	216616 (Evidence)
UniGene	44176
DFCI	TC1581531
DoTS	DT.486220
NIA Mouse Gene Index	U012400
Consensus CDS Project	CCDS48761.1
International Mouse Knockout Project Status	Efemp1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005315	VEGA Gene Model | MGI Sequence Detail	73540	C57BL/6J
transcript	OTTMUST00000011842	VEGA | MGI Sequence Detail	2037	Not Applicable
polypeptide	OTTMUSP00000005484	VEGA | MGI Sequence Detail	493	Not Applicable

All sequences(31) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(247 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR026823	Complement Clr-like EGF domain
InterPro	IPR026824	EGF-containing fibulin-like extracellular matrix protein 1/2
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
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:185190 Lutter S, et al., Smooth muscle-endothelial cell communication activates Reelin signaling and regulates lymphatic vessel formation. J Cell Biol. 2012 Jun 11;197(6):837-49
All references(41)