InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Efemp1

Summary

InnateDB Gene

IDBG-156386.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Efemp1

Gene Name

epidermal growth factor-containing fibulin-like extracellular matrix protein 1

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000020467

Encoded Proteins

IDBP-156388

epidermal growth factor-containing fibulin-like extracellular matrix protein 1

IDBP-532702

epidermal growth factor-containing fibulin-like extracellular matrix protein 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000115380:
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 11:28853204-28926743

Strand

Forward strand

Band

A3.3

Transcripts

ENSMUST00000020759	ENSMUSP00000020759
ENSMUST00000124103
ENSMUST00000139713	ENSMUSP00000114757

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Predicted by orthology
Total	14 [view]

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:0018108	peptidyl-tyrosine phosphorylation
GO:0032331	negative regulation of chondrocyte differentiation

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000115380

View Gene Order

ENSBTAG00000017448

Not yet available

Pathways

NETPATH

REACTOME

REACT_198996

Elastic fibre formation pathway

REACT_198998

Molecules associated with elastic fibres pathway

REACT_206066

Extracellular matrix organization pathway

KEGG

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

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

Q8BPB5

TrEMBL

Q8K0J4 Q8R1U8

UniProt Splice Variant

Entrez Gene

216616

UniGene

Mm.44176

RefSeq

NM_146015 XM_006514659 XM_006514660 XM_006514661 XM_006514662

OMIM

CCDS

CCDS48761

HPRD

IMGT

MGI ID

MGI:1339998

MGI Symbol

Efemp1

EMBL

AK077302 AL954346 AY185605 AY251056 BC023060 BC031184

GenPept

AAH23060 AAH31184 AAO37642 AAP79577 BAC36738 CAI25011

RNA Seq Atlas

216616