FBLN1 - fibulin 1 Gene

Homo sapiens

Also known as FBLN; FIBL1

Gene ID: 2192 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04772	FBLN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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