EFEMP1

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]

Description

EGF containing fibulin extracellular matrix protein 1

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (55865967 - 55924139)

Ensembl ID

ENSG00000115380  (ver. 103.38)

Orthologs

Mouse Efemp1: ENSMUSG00000020467

UniProt

Q12805

neXtProt

NX_Q12805

Human splice variants
Mouse splice variants

Protein structure