Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Efemp1provided by MGI
Official Full Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 1provided by MGI
Primary source: MGI:MGI:1339998
See related: Ensembl:ENSMUSG00000020467 AllianceGenome:MGI:1339998
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable epidermal growth factor receptor activity and epidermal growth factor receptor binding activity. Predicted to be involved in several processes, including negative regulation of chondrocyte differentiation; peptidyl-tyrosine phosphorylation; and regulation of cell projection organization. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; male reproductive gland or organ; and skeleton. Used to study Doyne honeycomb retinal dystrophy. Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy and cutis laxa. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 63.1), bladder adult (RPKM 60.9) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A3.3; 11 16.32 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (28803154..28876743)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (28853154..28926743)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse.
Title: Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse.
Fibulin-3 is necessary to prevent cardiac rupture following myocardial infarction.
Title: Fibulin-3 is necessary to prevent cardiac rupture following myocardial infarction.
PUM2 regulates the formation of thoracic aortic dissection through EFEMP1.
Title: PUM2 regulates the formation of thoracic aortic dissection through EFEMP1.
The results of this study suggest that Fib3 is involved in the pathogenesis of psoriasis by promoting angiogenesis. Fib3 could serve as a potential target for treating psoriasis.
Title: Overexpressed fibulin-3 contributes to the pathogenesis of psoriasis by promoting angiogenesis.
TWEAK promotes migration and invasion in murine embryonic fibroblasts through a mechanism dependent on ERKs activation and Fibulin 3 down-regulation.
Title: TWEAK promotes migration and invasion in MEFs through a mechanism dependent on ERKs activation and Fibulin 3 down-regulation.
Mutant fibulin-3 causes proteoglycan accumulation, reduction of MMP-2 and MMP-9, but increase of TIMP-3, and impairs diffusion across Bruch's membrane.
Title: Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane.
Define the Efemp1-p27(Kip1) axis as a potential marker module of PDAC cell sensitivity towards dual PI3K-mTOR inhibitors.
Title: Efemp1 and p27(Kip1) modulate responsiveness of pancreatic cancer cells towards a dual PI3K/mTOR inhibitor in preclinical models.
Data suggest a role for fibulin-3 in tissue maintenance and regeneration in the adult olfactory pathway.
Title: Lack of fibulin-3 alters regenerative tissue responses in the primary olfactory pathway.
both fibulin-3 and -5 are important in maintaining pelvic organ support in mice.
Title: Failure of pelvic organ support in mice deficient in fibulin-3.
The Efemp1 knock-in mice reconstitute the most important histopathologic symptoms of both Malattia leventinese and age-related macular degeneration.
Title: Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Mit172 (e-PCR), detects polymorphism
- UniSTS:126367

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables epidermal growth factor receptor activity	ISO Inferred from Sequence Orthology more info
enables epidermal growth factor receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables epidermal growth factor receptor binding	ISO Inferred from Sequence Orthology more info
enables epidermal growth factor receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in embryonic eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of chondrocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell projection organization	ISO Inferred from Sequence Orthology more info
involved_in post-embryonic eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of glial cell migration	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basement membrane	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: EGF-containing fibulin-like extracellular matrix protein 1

Names: FIBL-3; fibulin-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_146015.2 → NP_666127.2 EGF-containing fibulin-like extracellular matrix protein 1 precursor

See identical proteins and their annotated locations for NP_666127.2

Status: VALIDATED

Source sequence(s)

AK077302, AY251056

Consensus CDS

CCDS48761.1

UniProtKB/Swiss-Prot

Q6Y3N6, Q8BPB5

Related

ENSMUSP00000020759.6, ENSMUST00000020759.12

Conserved Domains (3) summary

smart00179
Location:214 → 244

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:173 → 206

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:274 → 297

cEGF; Complement Clr-like EGF-like

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

28803154..28876743

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245798.1 → XP_030101658.1 EGF-containing fibulin-like extracellular matrix protein 1 isoform X2

Conserved Domains (3) summary

smart00179
Location:214 → 244

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:173 → 206

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:234 → 257

cEGF; Complement Clr-like EGF-like
XM_006514660.1 → XP_006514723.1 EGF-containing fibulin-like extracellular matrix protein 1 isoform X1

See identical proteins and their annotated locations for XP_006514723.1

UniProtKB/Swiss-Prot

Q6Y3N6, Q8BPB5

Conserved Domains (3) summary

smart00179
Location:214 → 244

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:173 → 206

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:274 → 297

cEGF; Complement Clr-like EGF-like