Homo sapiens Gene: EFEMP1
Summary
InnateDB Gene IDBG-52693.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EFEMP1
Gene Name EGF containing fibulin-like extracellular matrix protein 1
Synonyms DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5;
Species Homo sapiens
Ensembl Gene ENSG00000115380
Encoded Proteins
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:55865967-55924139
Strand Reverse strand
Band p16.1
Transcripts
ENST00000355426 ENSP00000347596
ENST00000394555 ENSP00000378058
ENST00000438672 ENSP00000392055
ENST00000452161
ENST00000439193 ENSP00000408195
ENST00000440439 ENSP00000398345
ENST00000429909 ENSP00000389319
ENST00000452337 ENSP00000399480
ENST00000421664 ENSP00000405686
ENST00000424207 ENSP00000398387
ENST00000480016
ENST00000497698
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005006 epidermal growth factor-activated receptor activity
GO:0005154 epidermal growth factor receptor binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008083 growth factor activity
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007601 visual perception
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030198 extracellular matrix organization
GO:0032331 negative regulation of chondrocyte differentiation
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0031012 extracellular matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Elastic fibre formation pathway
Extracellular matrix organization pathway
Molecules associated with elastic fibres pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.732348 Hs.76224
RefSeq NM_001039348 NM_001039349
HUGO
OMIM
CCDS CCDS1857
HPRD 03331
IMGT
EMBL
GenPept
RNA Seq Atlas