NP_001034437.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
39,195 Da
NCBI Official Full Name
EGF-containing fibulin-like extracellular matrix protein 1
NCBI Official Synonym Full Names
EGF containing fibulin like extracellular matrix protein 1
NCBI Official Synonym Symbols
DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3 [Similar Products]
NCBI Protein Information
EGF-containing fibulin-like extracellular matrix protein 1
UniProt Protein Name
EGF-containing fibulin-like extracellular matrix protein 1
UniProt Synonym Protein Names
Extracellular protein S1-5; Fibrillin-like protein; Fibulin-3; FIBL-3
UniProt Synonym Gene Names
UniProt Entry Name
FBLN3_HUMAN
NCBI Summary for 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]
UniProt Comments for EFEMP1
EFEMP1: Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. Defects in EFEMP1 are a cause of Doyne honeycomb retinal dystrophy (DHRD); also known as malattia leventinese (MLVT) (ML). DHRD is an autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. Belongs to the fibulin family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 2p16
Cellular Component: extracellular matrix; extracellular region; extracellular space
Molecular Function: epidermal growth factor receptor activity; epidermal growth factor receptor binding; protein binding
Biological Process: camera-type eye development; embryonic eye morphogenesis; epidermal growth factor receptor signaling pathway; negative regulation of chondrocyte differentiation; peptidyl-tyrosine phosphorylation; post-embryonic eye morphogenesis; regulation of transcription, DNA-dependent; visual perception
Disease: Doyne Honeycomb Retinal Dystrophy
Research Articles on EFEMP1
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Products associated with anti-EFEMP1 antibody
Pathways associated with anti-EFEMP1 antibody
Diseases associated with anti-EFEMP1 antibody
Organs/Tissues associated with anti-EFEMP1 antibody
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