Homo sapiens Gene: EFEMP1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-52693.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | EFEMP1 | ||||||||||||||||||
Gene Name | EGF containing fibulin-like extracellular matrix protein 1 | ||||||||||||||||||
Synonyms | DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000115380 | ||||||||||||||||||
Encoded Proteins |
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
EGF containing fibulin-like extracellular matrix protein 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 2:55865967-55924139 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | p16.1 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Molecules associated with elastic fibres pathway
Elastic fibre formation pathway
Extracellular matrix organization pathway
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KEGG | |||||||||||||||||||
INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.732348 Hs.76224 | ||||||||||||||||||
RefSeq | NM_001039348 NM_001039349 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS1857 | ||||||||||||||||||
HPRD | 03331 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||