FBLN1 - fibulin 1 Gene

Also Known as FBLN; FIBL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2192

About FBLN1

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:45,502,883-45,601,135 (from NCBI)

This gene has 18 transcripts (splice variants), 201 orthologues, 6 paralogues and is associated with 4 phenotypes. Broad expression in gall bladder (RPKM 239.4), placenta (RPKM 204.3) and 16 other tissues.

Summary

Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]

FBLN1 Products (4)

mRNA	Protein	Name
NM_001996.4	NP_001987.3	fibulin-1 isoform C precursor
NM_006485.4	NP_006476.3	fibulin-1 isoform B precursor
NM_006486.3	NP_006477.3	fibulin-1 isoform D precursor
NM_006487.3	NP_006478.3	fibulin-1 isoform A precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	9278415	GOA
enables extracellular matrix structural constituent	IDA IDA: Inferred from direct assay	2269669	GOA
enables fibrinogen binding	IPI IPI: Inferred from physical interaction	7642629	GOA
enables fibronectin binding	IPI IPI: Inferred from physical interaction	1400330	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	1400330	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25661773	GOA
enables integrin binding	IDA IDA: Inferred from direct assay	25661773	GOA
enables integrin binding	IPI IPI: Inferred from physical interaction	25661773	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9927660	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	7642629	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in blood coagulation, fibrin clot formation	IDA IDA: Inferred from direct assay	7642629	GOA
NOT involved in integrin-mediated signaling pathway	IDA IDA: Inferred from direct assay	11792823	GOA
involved in negative regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	11792823	GOA
involved in negative regulation of cell adhesion	IDA IDA: Inferred from direct assay	11792823	GOA
involved in negative regulation of cell motility	IDA IDA: Inferred from direct assay	11792823	GOA
involved in negative regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	11792823	GOA
involved in negative regulation of stem cell proliferation	IDA IDA: Inferred from direct assay	11238726	GOA
involved in negative regulation of substrate adhesion-dependent cell spreading	IDA IDA: Inferred from direct assay	11792823	GOA
involved in negative regulation of transformation of host cell by virus	IMP IMP: Inferred from mutant phenotype	12200142	GOA
involved in negative regulation of transforming growth factor beta production	IDA IDA: Inferred from direct assay	25834989	GOA
involved in positive regulation of fibroblast proliferation	IDA IDA: Inferred from direct assay	25834989	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	25834989	GOA
involved in positive regulation of substrate-dependent cell migration, cell attachment to substrate	IDA IDA: Inferred from direct assay	25834989	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in elastic fiber	IDA IDA: Inferred from direct assay	7534784	GOA
located in extracellular matrix	IDA IDA: Inferred from direct assay	2269669	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	2269669	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

FBLN1 Protein Structure

ANATO

EGF_CA

cEGF

EGF_CA

0
200
400
600
703 a.a.

Protein Preferred Names	Protein Names
fibulin-1

FBLN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83086	Fibulin 1 Antibody (YA2831)	WB, IP	Human, Mouse
HY-P83086A	Fibulin 1 Antibody (YA2831)(PBS only)	WB, IP	Human, Mouse

Related Diseases

Diseases	Alias
Synpolydactyly 2	Synpolydactyly Type 2 SPD2 Synpolydactyly, 3/3'4, Associated With Metacarpal And Metatarsal Synostoses Synpolydactyly, 3/3-Prime/4, Associated With Metacarpal And Metatarsal Synostoses Sd2, Debeer Type Sd2b Spd, Debeer Type Synpolydactyly, Debeer Type Synpolydactyly, Type 2
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Osteochondritis Dissecans	Osteochondritis Ocd Konig Disease
Thrombosis	Thrombosis Of Blood Vessel
Cardiomyopathy, Dilated, 1l	Dilated Cardiomyopathy 1l CMD1L Cardiomyopathy, Dilated 1l Cardiomyopathy, Dilated, Type 1l
Vitreoretinal Dystrophy	Vitreoretinal Dystrophies
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Syndactyly, Type Iii	Syndactyly Type 3 SDTY3 Ring And Little Finger Syndactyly Syndactyly Of Fingers Iv And V Syndactyly Of Fingers 4 And 5 Ringand Little Finger Syndactyly Syndactyly Of Fingers Four And Five Syndactyly Of The Ring And Little Finger Sd3 Syndactyly 3 Syndactyly Type Iii 4-5 Finger Syndactyly Syndactyly, Type 3
Retinal Drusen
Fibrous Meningioma	Fibroblastic Meningioma
Metacarpal 4-5 Fusion	Syndactyly Type 8 MF4 Fusion Of Metacarpals 4 And 5 Metacarpals 4 And 5 Fusion Metacarpal 4 5 Fusion
Autosomal Recessive Cutis Laxa Type I	Autosomal Recessive Cutis Laxa Type 1 Cutis Laxa, Type 1 Cutis Laxa, Autosomal Recessive, Type I Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive Arcl1 Autosomal Recessive Cutis Laxa With Severe Systemic Involvement Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta

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-RS04772	FBLN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20403	Fbln1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26912	Fbln1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FBLN1	VGNC	VGNC:83879
Bos taurus	FBLN1	VGNC	VGNC:28881
Rattus norvegicus	FBLN1	RGD	RGD:1308667
Macaca mulatta	FBLN1	VGNC	VGNC:72620
Canis familiaris	FBLN1	VGNC	VGNC:40750
Mus musculus	FBLN1	MGD	MGI:95487
Others	FBLN1	NCBI