2. Gene
  3. EFEMP1 - EGF containing fibulin extracellular matrix protein 1 Gene

EFEMP1 - EGF containing fibulin extracellular matrix protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 2202 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

EGF_CA: Calcium-binding EGF domain (44 - 71)

EGF_CA

EGF_CA: Calcium-binding EGF domain (173 - 212)

EGF_CA

EGF_CA: Calcium-binding EGF domain (214 - 252)

cEGF

cEGF: Complement Clr-like EGF-like (274 - 297)

cEGF

cEGF: Complement Clr-like EGF-like (316 - 337)

  • 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 Reference
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%

EFEMP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83138 EFEMP1 Antibody (YA2883) 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04185 EFEMP1 Human Pre-designed siRNA Set A Pre-designed Sets / 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