EFEMP1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| EGF containing fibulin extracellular matrix protein 1 | MIM:601548 | Ensembl:ENSG00000115380 | HGNC:HGNC:3218 | PA27652 | 2p16.1 |
GO terms in EFEMP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IDA | GO:0007173 | epidermal growth factor receptor signaling pathway |
| BP | TAS | GO:0007601 | visual perception |
| BP | IEA | GO:0010469 | regulation of signaling receptor activity |
| BP | IDA | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | IDA | GO:0032331 | negative regulation of chondrocyte differentiation |
| BP | IEP | GO:0043010 | camera-type eye development |
| BP | IEP | GO:0048048 | embryonic eye morphogenesis |
| BP | IEP | GO:0048050 | post-embryonic eye morphogenesis |
| CC | HDA | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005615 | extracellular space |
| CC | TAS | GO:0031012 | extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IDA | GO:0005006 | epidermal growth factor-activated receptor activity |
| MF | IDA | GO:0005154 | epidermal growth factor receptor binding |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008083 | growth factor activity |
Gene expression in normal tissue: EFEMP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EFEMP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1566948 | Elastic fibre formation |
| reactome | R-HSA-1566948 | Elastic fibre formation |
| reactome | R-HSA-2129379 | Molecules associated with elastic fibres |
| reactome | R-HSA-2129379 | Molecules associated with elastic fibres |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EFEMP1
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