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

Gene ID: 216616, updated on 26-Sep-2022

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 binding activity and epidermal growth factor-activated receptor 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. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in subcutaneous fat pad adult (RPKM 63.1), bladder adult (RPKM 60.9) and 17 other tissues See more
Orthologs
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Genomic context

See Efemp1 in Genome Data Viewer
Location:
11; 11 A3.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 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_000077.7Genomic Context describing neighboring genes Neighboring gene microRNA 217 host gene Neighboring gene microRNA 217 Neighboring gene predicted gene, 34185 Neighboring gene ribosomal protein SA, pseudogene 5 Neighboring gene polyribonucleotide nucleotidyltransferase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (6)  1 citation
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC37612

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 binding ISO
Inferred from Sequence Orthology
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
 
Component Evidence Code Pubs
located_in basement membrane ISO
Inferred from Sequence Orthology
more info
 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_146015.2NP_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:214244
    EGF_CA; Calcium-binding EGF-like domain
    pfam07645
    Location:173206
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:274297
    cEGF; Complement Clr-like EGF-like

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    28803154..28876743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    smart00179
    Location:214244
    EGF_CA; Calcium-binding EGF-like domain
    pfam07645
    Location:173206
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:234257
    cEGF; Complement Clr-like EGF-like
  2. XM_006514660.1XP_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:214244
    EGF_CA; Calcium-binding EGF-like domain
    pfam07645
    Location:173206
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:274297
    cEGF; Complement Clr-like EGF-like