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].

EGF containing fibulin extracellular matrix protein 1MIM:601548Ensembl:ENSG00000115380HGNC:HGNC:3218PA276522p16.1

GO terms in EFEMP1

Term TypeEvidence TypeGO Term IDGO Des.
BPIDAGO:0006355regulation of transcription, DNA-templated
BPIDAGO:0007173epidermal growth factor receptor signaling pathway
BPTASGO:0007601visual perception
BPIEAGO:0010469regulation of signaling receptor activity
BPIDAGO:0018108peptidyl-tyrosine phosphorylation
BPIDAGO:0032331negative regulation of chondrocyte differentiation
BPIEPGO:0043010camera-type eye development
BPIEPGO:0048048embryonic eye morphogenesis
BPIEPGO:0048050post-embryonic eye morphogenesis
CCHDAGO:0005576extracellular region
CCTASGO:0005576extracellular region
CCHDAGO:0005615extracellular space
CCIDAGO:0005615extracellular space
CCTASGO:0031012extracellular matrix
CCHDAGO:0062023collagen-containing extracellular matrix
CCHDAGO:0070062extracellular exosome
MFIDAGO:0005006epidermal growth factor-activated receptor activity
MFIDAGO:0005154epidermal growth factor receptor binding
MFIEAGO:0005509calcium ion binding
MFIPIGO:0005515protein binding
MFIEAGO:0008083growth factor activity

Gene expression in normal tissue: EFEMP1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in EFEMP1

DatabasePathway IDPathway Des.
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1566948Elastic fibre formation
reactomeR-HSA-1566948Elastic fibre formation
reactomeR-HSA-2129379Molecules associated with elastic fibres
reactomeR-HSA-2129379Molecules associated with elastic fibres

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in EFEMP1