FBLN5 - fibulin 5 Gene
Also Known as EVEC; UP50; ADCL2; ARMD3; CMT1H; DANCE; ARCL1A; FIBL-5; HNARMD
Species: Homo sapiens
About FBLN5
This gene has 9 transcripts (splice variants), 193 orthologues, 6 paralogues and is associated with 10 phenotypes. Broad expression in gall bladder (RPKM 67.7), spleen (RPKM 57.2) and 24 other tissues.
Summary
The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
FBLN5 Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001384158.1 | NP_001371087.1 | fibulin-5 isoform 2 precursor |
| NM_001384159.1 | NP_001371088.1 | fibulin-5 isoform 3 precursor |
| NM_001384160.1 | NP_001371089.1 | fibulin-5 isoform 4 precursor |
| NM_001384161.1 | NP_001371090.1 | fibulin-5 isoform 5 |
| NM_001384162.1 | NP_001371091.1 | fibulin-5 isoform 6 |
| NM_006329.4 | NP_006320.2 | fibulin-5 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15528465 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
19617354 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in elastic fiber assembly |
IMP
IMP: Inferred from mutant phenotype
|
17035250 | GOA |
| involved in secretion |
IDA
IDA: Inferred from direct assay
|
20599547 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in collagen-containing extracellular matrix |
IDA
IDA: Inferred from direct assay
|
17035250 | GOA |
FBLN5 Protein Structure
EGF_CA: Calcium-binding EGF domain (42 - 69)
EGF_CA: Calcium-binding EGF domain (127 - 164)
cEGF: Complement Clr-like EGF-like (187 - 210)
FXa_inhibition: Coagulation Factor Xa inhibitory site (257 - 286)
EGF_CA: Calcium-binding EGF domain (288 - 328)
- 0
- 100
- 200
- 300
- 400
- 448 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
fibulin-5 |
|
FBLN5 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
FBLN5 | Q9UBX5 | NUFIP2 | Homo sapiens | Q7Z417 | 21653829 | |
|
Intra
|
FBLN5 | Q9UBX5 | NUFIP2 | Homo sapiens | Q7Z417 | 33961781 | |
|
Intra
|
FBLN5 | Q9UBX5 | ELN | Homo sapiens | P15502 | 19570982 | |
|
Intra
|
FBLN5 | Q9UBX5 | ELN | Homo sapiens | P15502 | 19570982 | |
|
Intra
|
FBLN5 | Q9UBX5 | FBN1 | Homo sapiens | P35555 | 19570982 | |
|
Intra
|
FBLN5 | Q9UBX5 | TRIP13 | Homo sapiens | Q15645 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | TRIP13 | Homo sapiens | Q15645 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | TRIP13 | Homo sapiens | Q15645 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | LOX | Homo sapiens | P28300 | 19570982 | |
|
Intra
|
FBLN5 | Q9UBX5 | LOX | Homo sapiens | P28300 | 25118846 | |
|
Intra
|
FBLN5 | Q9UBX5 | OTX1 | Homo sapiens | P32242 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | OTX1 | Homo sapiens | P32242 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | OTX1 | Homo sapiens | P32242 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | EFEMP2 | Homo sapiens | O95967 | 19570982 | |
|
Intra
|
FBLN5 | Q9UBX5 | MEOX2 | Homo sapiens | P50222 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | MEOX2 | Homo sapiens | P50222 | 25910212 | |
|
Intra
|
FBLN5 | Q9UBX5 | MEOX2 | Homo sapiens | P50222 | 25910212 |
FBLN5 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P82703 | Fibulin 5 Antibody (YA2448) | WB | Human, Mouse |
| HY-P84858 | Fibulin 5 Antibody (YA4555) | IHC-P, ELISA | Human |
| HY-P84858A | Fibulin 5 Antibody (YA4555)(PBS only) | IHC-P, ELISA | Human |
| HY-P85166 | Fibulin 5 Antibody (YA4858) | WB, IHC-P, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Macular Degeneration, Age-Related, 3 |
|
|
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1h |
|
|
| Cutis Laxa, Autosomal Dominant 2 |
|
|
| Cutis Laxa, Autosomal Dominant 1 |
|
|
| Fbln5-Related Cutis Laxa |
|
|
| Autosomal Recessive Cutis Laxa Type I |
|
|
| Hereditary Sensorimotor Neuropathy With Hyperelastic Skin |
|
|
| Cutis Laxa |
|
|
| Pelvic Organ Prolapse |
|
|
| Aortic Aneurysm |
|
|
| Supravalvular Aortic Stenosis |
|
|
| Macs Syndrome |
|
|
| Inguinal Hernia |
|
|
| Aortic Dissection |
|
|
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
|
| Basal Laminar Drusen |
|
|
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Charcot-Marie-Tooth Disease Type 1g |
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
|
| Autosomal Recessive Cutis Laxa Type Iii |
|
|
| Pneumothorax |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
|
| Retinal Drusen |
|
|
| Arterial Tortuosity Syndrome |
|
|
| Ureteric Orifice Cancer |
|
|
| Cardiomyopathy, Dilated, 1l |
|
|
| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
|
|
| Occipital Horn Syndrome |
|
|
| Geroderma Osteodysplasticum |
|
|
| Phacogenic Glaucoma |
|
|
| Ehlers-Danlos Syndrome, Vascular Type |
|
|
| Bladder Diverticulum |
|
|
| Connective Tissue Disease |
|
|
| Tibialis Tendinitis |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Eye Disease |
|
|
| Plethora Of Newborn |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Macular Degeneration, Age-Related, 4 |
|
|
| Loeys-Dietz Syndrome |
|
|
| Scoliosis |
|
|
| Wrinkly Skin Syndrome |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Williams-Beuren Syndrome |
|
|
| Fundus Dystrophy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | FBLN5 | RGD | RGD:2594 |
| Canis familiaris | FBLN5 | VGNC | VGNC:40752 |
| Felis catus | FBLN5 | VGNC | VGNC:62168 |
| Bos taurus | FBLN5 | VGNC | VGNC:28883 |
| Macaca mulatta | FBLN5 | VGNC | VGNC:72622 |
| Mus musculus | FBLN5 | MGD | MGI:1346091 |
| Others | FBLN5 | NCBI |