InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-52697

EGF containing fibulin-like extracellular matrix protein 1

IDBP-241342

EGF containing fibulin-like extracellular matrix protein 1

IDBP-376637

EGF containing fibulin-like extracellular matrix protein 1

IDBP-376645

EGF containing fibulin-like extracellular matrix protein 1

IDBP-376648

EGF containing fibulin-like extracellular matrix protein 1

IDBP-376651

EGF containing fibulin-like extracellular matrix protein 1

IDBP-376652

EGF containing fibulin-like extracellular matrix protein 1

IDBP-376653

EGF containing fibulin-like extracellular matrix protein 1

IDBP-376654

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

ENSMUSG00000020467

View Gene Order

ENSBTAG00000017448

Not yet available

Pathways

NETPATH

REACTOME

REACT_150331

Molecules associated with elastic fibres pathway

REACT_150366

Elastic fibre formation pathway

REACT_118779

Extracellular matrix organization pathway

KEGG

INOH

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