EFEMP1 - EGF containing fibulin extracellular matrix protein 1 Gene

Also Known as DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2202

About EFEMP1

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:55,865,967-55,923,782 (from NCBI)

This gene has 14 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 172.1), lung (RPKM 80.6) and 21 other tissues.

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]

EFEMP1 Products (2)

mRNA	Protein	Name
NM_001039348.3	NP_001034437.1	EGF-containing fibulin-like extracellular matrix protein 1 precursor
NM_001039349.3	NP_001034438.1	EGF-containing fibulin-like extracellular matrix protein 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables epidermal growth factor receptor activity	IDA IDA: Inferred from direct assay	19804359	GOA
enables epidermal growth factor receptor binding	IDA IDA: Inferred from direct assay	19804359	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in camera-type eye development	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in epidermal growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	19804359	GOA
involved in negative regulation of chondrocyte differentiation	IDA IDA: Inferred from direct assay	20005202	GOA
involved in peptidyl-tyrosine phosphorylation	IDA IDA: Inferred from direct assay	19804359	GOA
involved in post-embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20005202	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular matrix	IMP IMP: Inferred from mutant phenotype	35998264	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	20005202	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EFEMP1 Protein Structure

EGF_CA

cEGF

0
100
200
300
400
493 a.a.

Protein Preferred Names	Protein Names
EGF-containing fibulin-like extracellular matrix protein 1	EGF containing fibulin like extracellular matrix protein 1

EFEMP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EFEMP1	Q12805	CLPP	Homo sapiens	Q16740	Validated Y2H	32296183
Intra	EFEMP1	Q12805	CLPP	Homo sapiens	Q16740	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	CLPP	Homo sapiens	Q16740	Y2H Array	32296183
Intra	EFEMP1	Q12805	MSRB3	Homo sapiens	Q8IXL7-2	Validated Y2H	32296183
Intra	EFEMP1	Q12805	LCE2C	Homo sapiens	Q5TA81	Y2H Array	32296183
Intra	EFEMP1	Q12805	LCE2C	Homo sapiens	Q5TA81	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	LCE2C	Homo sapiens	Q5TA81	Validated Y2H	32296183
Intra	EFEMP1	Q12805	KRTAP6-1	Homo sapiens	Q3LI64	Validated Y2H	32296183
Intra	EFEMP1	Q12805	KRTAP6-1	Homo sapiens	Q3LI64	Y2H Array	32296183
Intra	EFEMP1	Q12805	KRTAP6-1	Homo sapiens	Q3LI64	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	KRTAP19-2	Homo sapiens	Q3LHN2	Validated Y2H	32296183
Intra	EFEMP1	Q12805	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Array	32296183
Intra	EFEMP1	Q12805	LCE1C	Homo sapiens	Q5T751	Validated Y2H	32296183
Intra	EFEMP1	Q12805	LCE1C	Homo sapiens	Q5T751	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	LCE1C	Homo sapiens	Q5T751	Y2H Array	32296183
Intra	EFEMP1	Q12805	ANAPC11	Homo sapiens	Q9NYG5-2	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	ANAPC11	Homo sapiens	Q9NYG5-2	Validated Y2H	32296183
Intra	EFEMP1	Q12805	ANAPC11	Homo sapiens	Q9NYG5-2	Y2H Array	32296183
Intra	EFEMP1	Q12805	NR4A3	Homo sapiens	Q92570	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	NR4A3	Homo sapiens	Q92570	Validated Y2H	32296183
Intra	EFEMP1	Q12805	NR4A3	Homo sapiens	Q92570	Y2H Array	32296183
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	26871637
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	26871637
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	26871637
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	FAM110A	Homo sapiens	Q9BQ89	Validated Y2H	32296183
Intra	EFEMP1	Q12805	KRTAP21-2	Homo sapiens	Q3LI59	Y2H Array	32296183
Intra	EFEMP1	Q12805	KRTAP21-2	Homo sapiens	Q3LI59	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	KRTAP21-2	Homo sapiens	Q3LI59	Validated Y2H	32296183
Intra	EFEMP1	Q12805	MKRN3	Homo sapiens	Q13064	Validated Y2H	32296183
Intra	EFEMP1	Q12805	TXNDC5	Homo sapiens	Q86UY0	Y2H Array	25416956
Intra	EFEMP1	Q12805	BAG4	Homo sapiens	O95429	Y2H Array	32296183
Intra	EFEMP1	Q12805	BAG4	Homo sapiens	O95429	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	BAG6	Homo sapiens	P46379	Y2H Array	31515488
Intra	EFEMP1	Q12805	BAG6	Homo sapiens	P46379	Validated Y2H	25416956
Intra	EFEMP1	Q12805	BAG6	Homo sapiens	P46379	Y2H Array	25416956
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Validated Y2H	25910212
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Bait-Prey Pool	25910212
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Array	25910212
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Validated Y2H	26871637
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Pooling	16189514
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Array	26871637
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Array	32296183
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	25416956
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	26871637
Intra	EFEMP1	Q12805	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	SLPI	Homo sapiens	P03973	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	SLPI	Homo sapiens	P03973	Y2H Array	32296183
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	26871637
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Array	25910212
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Validated Y2H	26871637
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Validated Y2H	32296183
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Array	25416956
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Array	26871637
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Bait-Prey Pool	25910212
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Validated Y2H	25910212
Intra	EFEMP1	Q12805	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	25416956
Intra	EFEMP1	Q12805	BAG5	Homo sapiens	Q9UL15	Validated Y2H	32296183
Intra	EFEMP1	Q12805	BAG5	Homo sapiens	Q9UL15	Y2H Array	32296183
Intra	EFEMP1	Q12805	BAG5	Homo sapiens	Q9UL15	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	EFEMP1	Q12805	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	HSD3B7	Homo sapiens	Q9H2F3	Validated Y2H	32296183
Intra	EFEMP1	Q12805	LCE3D	Homo sapiens	Q9BYE3	Validated Y2H	32296183
Intra	EFEMP1	Q12805	OTX1	Homo sapiens	P32242	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	OTX1	Homo sapiens	P32242	Y2H Array	32296183
Intra	EFEMP1	Q12805	HOXA1	Homo sapiens	P49639	Y2H Pooling	21653829
Intra	EFEMP1	Q12805	HOXA1	Homo sapiens	P49639	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	HOXA1	Homo sapiens	P49639	Y2H Array	32296183
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	P50222	Validated Y2H	25910212
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	P50222	Y2H Bait-Prey Pool	25910212
Intra	EFEMP1	Q12805	MEOX2	Homo sapiens	P50222	Y2H Array	25910212
Intra	EFEMP1	Q12805	RIC8A	Homo sapiens	Q9NPQ8-4	Validated Y2H	25416956
Intra	EFEMP1	Q12805	RIC8A	Homo sapiens	Q9NPQ8-4	Y2H Array	25416956
Intra	EFEMP1	Q12805	RIC8A	Homo sapiens	Q9NPQ8-4	Y2H Prey Pooling	25416956
Intra	EFEMP1	Q12805	LCE3A	Homo sapiens	Q5TA76	Validated Y2H	32296183
Intra	EFEMP1	Q12805	LCE3A	Homo sapiens	Q5TA76	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	LCE3A	Homo sapiens	Q5TA76	Y2H Array	32296183
Intra	EFEMP1	Q12805	IGFBP6	Homo sapiens	P24592	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	IGFBP6	Homo sapiens	P24592	Y2H Array	32296183
Intra	EFEMP1	Q12805	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183
Intra	EFEMP1	Q12805	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183
Intra	EFEMP1	Q12805	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183
Cross	EFEMP1	Q12805	Q9WMX2-PRO_0000037551	Hepatitis C virus	Q9WMX2-PRO_0000037551	Pull Down	18985028

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EFEMP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77920	Fibulin-3 Protein, Human (HEK293, His)	Q12805-1 (Q18-F493)	≥ 95%, as determined by Bis-Tris PAGE.

EFEMP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83138	EFEMP1 Antibody (YA2883)	WB, IHC-P, IP	Human
HY-P83138A	EFEMP1 Antibody (YA2883)(PBS only)	WB, IHC-P, IP	Human

Related Diseases

Diseases	Alias
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Familial Drusen	Malattia Leventinese Doyne Honeycomb Retinal Dystrophy Dhrd Dominant Drusen Dominant Radial Drusen
Bladder Diverticulum	Diverticulum Of Bladder Diverticulum - Bladder Bladder Diverticula Vesical Diverticulum Bladder Sacculation
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Juvenile Glaucoma	Glaucoma Of Childhood Hydrophthalmos
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Hypermobile Ehlers-Danlos Syndrome	Heds Ehlers-Danlos Syndrome Type 3 Ehlers-Danlos Syndrome Hypermobility Type Hypermobile Eds Joint Hypermobility Benign Joint Hypermobility Syndrome Eds Hypermobility Type Eds Type Iii Ehlers-Danlos Syndrome Type Iii Joint Hypermobility Syndrome Eds3 Ehlers-Danlos Syndrome, Hypermobility Type Eds Iii Eds-Ht
Scoliosis
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Optic Disk Drusen	Optic Disc Drusen Drusen Of Optic Disc Optic Nerve Head Drusen Drusen Optic Disc
Night Blindness	Nyctalopia
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Retinal Drusen
Basal Laminar Drusen	Drusen Of Bruch Membrane Drusen, Cuticular Drusen, Early Adult-Onset, Grouped Cuticular Drusen Early Adult-Onset Grouped Drusen BLD Drusen Cuticular Drusen Early Adult-Onset Grouped
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Cutis Laxa, Autosomal Recessive, Type Ia	ARCL1A Cutis Laxa, Autosomal Recessive Autosomal Recessive Cutis Laxa Type Ia Cutis Laxa, Autosomal Recessive, Type 1a Arcl1 Cutis Laxa, Autosomal Recessive, 1a Cl Type I Cutis Laxa Autosomal Recessive Type I Cutis Laxa Autosomal Recessive Type Ia Cutis Laxa, Autosomal Recessive, Type I
Blepharochalasis	Dermatolysis Palpebrarum Adiposa Ptosis
Cardiomyopathy, Dilated, 1l	Dilated Cardiomyopathy 1l CMD1L Cardiomyopathy, Dilated 1l Cardiomyopathy, Dilated, Type 1l
Sorsby Fundus Dystrophy	SFD Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Sorsby'S Fundus Dystrophy Macular Dystrophy, Hemorrhagic Hemorrhagic Macular Dystrophy Pseudoinflammatory Fundus Dystrophy Of Sorsby Sorsby'S Pseudoinflammatory Macular Dystrophy Sorsby Pseudoinflammatory Fundus Dystrophy Dystrophy, Fundus, Sorsby
Retinal Degeneration	Degeneration Of Retina
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Pleural Cancer	Pleural Neoplasms Neoplasm Of Pleura Pleural Tumor Malignant Tumor Of Pleura Pleural Cavity Cancer Primary Malignant Neoplasm Of Parietal Pleura Primary Malignant Neoplasm Of Pleura Primary Malignant Neoplasm Of Visceral Pleura
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04185	EFEMP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18005	Efemp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24477	Efemp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EFEMP1	RGD	RGD:1308528
Felis catus	EFEMP1	VGNC	VGNC:61743
Canis familiaris	EFEMP1	VGNC	VGNC:40220
Macaca mulatta	EFEMP1	VGNC	VGNC:72165
Bos taurus	EFEMP1	VGNC	VGNC:28348
Mus musculus	EFEMP1	MGD	MGI:1339998
Others	EFEMP1	NCBI