FBLN1 - fibulin 1 Gene

中文名称：纤维蛋白 1

种属: Homo sapiens

同用名: FBLN; FIBL1

基因 ID: 2192 | 基因类型: protein coding

关于 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.

功能概要

Fibulin 1 是一种分泌型糖蛋白，可掺入纤维状细胞外基质中。显然需要钙结合来介导其与层粘连蛋白和巢蛋白的结合。它通过结合纤维蛋白原介导血小板粘附。已鉴定出 3' 端不同的四种剪接变体。每个变体编码不同的亚型，但在四个变体之间没有发现功能差异。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables calcium ion binding	IDA IDA: 通过直接分析推断	9278415	GOA
enables extracellular matrix structural constituent	IDA IDA: 通过直接分析推断	2269669	GOA
enables fibrinogen binding	IPI IPI: 通过物理相互作用推断	7642629	GOA
enables fibronectin binding	IPI IPI: 通过物理相互作用推断	1400330	GOA
enables identical protein binding	IDA IDA: 通过直接分析推断	1400330	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	25661773	GOA
enables integrin binding	IDA IDA: 通过直接分析推断	25661773	GOA
enables integrin binding	IPI IPI: 通过物理相互作用推断	25661773	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9927660	GOA
enables protein-containing complex binding	IPI IPI: 通过物理相互作用推断	7642629	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in blood coagulation, fibrin clot formation	IDA IDA: 通过直接分析推断	7642629	GOA
NOT involved in integrin-mediated signaling pathway	IDA IDA: 通过直接分析推断	11792823	GOA
involved in negative regulation of ERK1 and ERK2 cascade	IDA IDA: 通过直接分析推断	11792823	GOA
involved in negative regulation of cell adhesion	IDA IDA: 通过直接分析推断	11792823	GOA
involved in negative regulation of cell motility	IDA IDA: 通过直接分析推断	11792823	GOA
involved in negative regulation of protein phosphorylation	IDA IDA: 通过直接分析推断	11792823	GOA
involved in negative regulation of stem cell proliferation	IDA IDA: 通过直接分析推断	11238726	GOA
involved in negative regulation of substrate adhesion-dependent cell spreading	IDA IDA: 通过直接分析推断	11792823	GOA
involved in negative regulation of transformation of host cell by virus	IMP IMP: 通过突变表型推断	12200142	GOA
involved in negative regulation of transforming growth factor beta production	IDA IDA: 通过直接分析推断	25834989	GOA
involved in positive regulation of fibroblast proliferation	IDA IDA: 通过直接分析推断	25834989	GOA
involved in positive regulation of gene expression	IDA IDA: 通过直接分析推断	25834989	GOA
involved in positive regulation of substrate-dependent cell migration, cell attachment to substrate	IDA IDA: 通过直接分析推断	25834989	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in elastic fiber	IDA IDA: 通过直接分析推断	7534784	GOA
located in extracellular matrix	IDA IDA: 通过直接分析推断	2269669	GOA
located in extracellular space	IDA IDA: 通过直接分析推断	2269669	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FBLN1 蛋白结构

ANATO

EGF_CA

cEGF

EGF_CA

0
200
400
600
703 a.a.

蛋白主名

其他名称

fibulin-1

FBLN1 抗体

目录号	产品名	应用	反应物种
HY-P83086	Fibulin 1 Antibody (YA2831)	WB, IP	Human, Mouse

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04772	FBLN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS20403	Fbln1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS26912	Fbln1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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