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Sequence in raw or FASTA format:

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EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu22367 NM_001039349 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 3, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu22367 NM_001039348 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu35325 XM_005264205 PREDICTED: Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu22367C NM_001039349 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 3, mRNA. Customized vector In-stock 5-7 $149.00
OHu22367C NM_001039348 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00
OHu35325C XM_005264205 PREDICTED: Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant X2, mRNA. Customized vector On-demand TBD $269.00

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Gene Symbol EFEMP1
Entrez Gene ID 2202
Full Name EGF containing fibulin-like extracellular matrix protein 1
Synonyms DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5
General protein information
Preferred Names
EGF-containing fibulin-like extracellular matrix protein 1
Names
EGF-containing fibulin-like extracellular matrix protein 1
fibulin-3
extracellular protein S1-5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2p16

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].
Disorder

MIM: 601548

Doyne honeycomb degeneration of retina, 126600 (3)

mRNA Protein Product Sequence Price Select
NM_001039348, 320118885 NP_001034437, 86788015 EGF-containing fibulin-like extracellular matrix protein 1 precursor ORF Sequence $360.00
NM_001039349, 320118886 NP_001034438, 86788132 EGF-containing fibulin-like extracellular matrix protein 1 precursor ORF Sequence $360.00
XM_005264205, 578802779 XP_005264262, 530367362 EGF-containing fibulin-like extracellular matrix protein 1 isoform X2 ORF Sequence $550.00
Reactome
REACT_118779Extracellular matrix organization
REACT_150366Elastic fibre formation
REACT_150331Molecules associated with elastic fibres
Homo sapiens (human)EFEMP1NP_001034438.1
Canis lupus familiaris (dog)EFEMP1XP_005626175.1
Bos taurus (cattle)EFEMP1NP_001075186.1
Mus musculus (house mouse)Efemp1NP_666127.2
Rattus norvegicus (Norway rat)Efemp1NP_001012039.1
Gallus gallus (chicken)EFEMP1XP_426097.3
Danio rerio (zebrafish)LOC100332567XP_002664117.2
Xenopus (Silurana) tropicalis (western clawed frog)efemp1XP_002936872.1
Process
IDNameEvidence
GO:0006355regulation of transcription, DNA-templatedIDA
GO:0007173epidermal growth factor receptor signaling pathwayIDA
GO:0007601visual perceptionTAS
GO:0018108peptidyl-tyrosine phosphorylationIDA
GO:0030198extracellular matrix organizationTAS
GO:0032331negative regulation of chondrocyte differentiationIDA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005578proteinaceous extracellular matrixIEA
GO:0005615extracellular spaceIDA
GO:0031012extracellular matrixIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005006epidermal growth factor-activated receptor activityIDA
GO:0005154epidermal growth factor receptor bindingIDA
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0008083growth factor activityIEA
GeneCards EFEMP1
UniProt B2R6M6, Q12805
Vega OTTHUMG00000129343
MIM 601548
Ensembl ENSG00000115380
HGNC 3218
HPRD 03331

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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