Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2192
Gene name	Fibulin 1
Gene symbol	FBLN1
Synonyms (NCBI Gene)	FBLNFIBL1
Chromosome	22
Chromosome location	22q13.31
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 v

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397509432	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs765918593	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant

185

Show/Hide all (185)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049926	hsa-miR-30a-3p	CLASH	23622248
MIRT990041	hsa-miR-1207-5p	CLIP-seq
MIRT990042	hsa-miR-1258	CLIP-seq
MIRT990043	hsa-miR-4436b-3p	CLIP-seq
MIRT990044	hsa-miR-4496	CLIP-seq
MIRT990045	hsa-miR-4763-3p	CLIP-seq
MIRT990046	hsa-miR-4290	CLIP-seq
MIRT990047	hsa-miR-1827	CLIP-seq
MIRT990048	hsa-miR-3922-5p	CLIP-seq
MIRT990049	hsa-miR-451b	CLIP-seq
MIRT990050	hsa-miR-4708-3p	CLIP-seq
MIRT990051	hsa-miR-4766-3p	CLIP-seq
MIRT1993390	hsa-miR-3614-5p	CLIP-seq
MIRT1993391	hsa-miR-4252	CLIP-seq
MIRT1993392	hsa-miR-4640-5p	CLIP-seq
MIRT1993393	hsa-miR-4726-5p	CLIP-seq
MIRT1993394	hsa-miR-635	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2387899	hsa-miR-140-3p	CLIP-seq
MIRT2387900	hsa-miR-4704-3p	CLIP-seq
MIRT2428750	hsa-miR-1245b-3p	CLIP-seq
MIRT2428751	hsa-miR-1283	CLIP-seq
MIRT2428752	hsa-miR-139-5p	CLIP-seq
MIRT2428753	hsa-miR-149	CLIP-seq
MIRT2428754	hsa-miR-155	CLIP-seq
MIRT2428755	hsa-miR-221	CLIP-seq
MIRT2428756	hsa-miR-222	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2428757	hsa-miR-3064-5p	CLIP-seq
MIRT2428758	hsa-miR-3120-3p	CLIP-seq
MIRT2428759	hsa-miR-3126-3p	CLIP-seq
MIRT2428760	hsa-miR-3143	CLIP-seq
MIRT2428761	hsa-miR-371-3p	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2428762	hsa-miR-4666-5p	CLIP-seq
MIRT2428763	hsa-miR-4781-3p	CLIP-seq
MIRT2428764	hsa-miR-4794	CLIP-seq
MIRT2428765	hsa-miR-499-3p	CLIP-seq
MIRT2428766	hsa-miR-499a-3p	CLIP-seq
MIRT2428767	hsa-miR-539	CLIP-seq
MIRT2428768	hsa-miR-543	CLIP-seq
MIRT2428769	hsa-miR-548v	CLIP-seq
MIRT2428770	hsa-miR-605	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2428771	hsa-miR-664	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2437205	hsa-miR-1305	CLIP-seq
MIRT2437206	hsa-miR-147b	CLIP-seq
MIRT2437207	hsa-miR-204	CLIP-seq
MIRT2437208	hsa-miR-211	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437210	hsa-miR-3117-5p	CLIP-seq
MIRT2437211	hsa-miR-3614-3p	CLIP-seq
MIRT2437212	hsa-miR-3662	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437214	hsa-miR-3691-3p	CLIP-seq
MIRT2437215	hsa-miR-378g	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2437218	hsa-miR-4437	CLIP-seq
MIRT2437219	hsa-miR-4446-5p	CLIP-seq
MIRT2437220	hsa-miR-4674	CLIP-seq
MIRT2437221	hsa-miR-4755-5p	CLIP-seq
MIRT2437222	hsa-miR-623	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq
MIRT2531192	hsa-miR-1238	CLIP-seq
MIRT2428750	hsa-miR-1245b-3p	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2531193	hsa-miR-1290	CLIP-seq
MIRT2437205	hsa-miR-1305	CLIP-seq
MIRT2437206	hsa-miR-147b	CLIP-seq
MIRT2428753	hsa-miR-149	CLIP-seq
MIRT2428754	hsa-miR-155	CLIP-seq
MIRT2437207	hsa-miR-204	CLIP-seq
MIRT2437208	hsa-miR-211	CLIP-seq
MIRT2428755	hsa-miR-221	CLIP-seq
MIRT2428756	hsa-miR-222	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2531194	hsa-miR-302a	CLIP-seq
MIRT2531195	hsa-miR-302b	CLIP-seq
MIRT2531196	hsa-miR-302c	CLIP-seq
MIRT2531197	hsa-miR-302d	CLIP-seq
MIRT2531198	hsa-miR-302e	CLIP-seq
MIRT2428757	hsa-miR-3064-5p	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437210	hsa-miR-3117-5p	CLIP-seq
MIRT2428759	hsa-miR-3126-3p	CLIP-seq
MIRT2437211	hsa-miR-3614-3p	CLIP-seq
MIRT2437212	hsa-miR-3662	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437214	hsa-miR-3691-3p	CLIP-seq
MIRT2531199	hsa-miR-372	CLIP-seq
MIRT2531200	hsa-miR-373	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2437215	hsa-miR-378g	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2437218	hsa-miR-4437	CLIP-seq
MIRT2531201	hsa-miR-4438	CLIP-seq
MIRT2437219	hsa-miR-4446-5p	CLIP-seq
MIRT2428762	hsa-miR-4666-5p	CLIP-seq
MIRT2437220	hsa-miR-4674	CLIP-seq
MIRT2531202	hsa-miR-4711-3p	CLIP-seq
MIRT2437221	hsa-miR-4755-5p	CLIP-seq
MIRT2428763	hsa-miR-4781-3p	CLIP-seq
MIRT2428764	hsa-miR-4794	CLIP-seq
MIRT2428765	hsa-miR-499-3p	CLIP-seq
MIRT2428766	hsa-miR-499a-3p	CLIP-seq
MIRT2531203	hsa-miR-511	CLIP-seq
MIRT2531204	hsa-miR-520a-3p	CLIP-seq
MIRT2531205	hsa-miR-520b	CLIP-seq
MIRT2531206	hsa-miR-520c-3p	CLIP-seq
MIRT2531207	hsa-miR-520d-3p	CLIP-seq
MIRT2531208	hsa-miR-520e	CLIP-seq
MIRT2428769	hsa-miR-548v	CLIP-seq
MIRT2437222	hsa-miR-623	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2428771	hsa-miR-664	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq
MIRT2531192	hsa-miR-1238	CLIP-seq
MIRT2428750	hsa-miR-1245b-3p	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2531193	hsa-miR-1290	CLIP-seq
MIRT2437205	hsa-miR-1305	CLIP-seq
MIRT2437206	hsa-miR-147b	CLIP-seq
MIRT2428753	hsa-miR-149	CLIP-seq
MIRT2428754	hsa-miR-155	CLIP-seq
MIRT2437207	hsa-miR-204	CLIP-seq
MIRT2437208	hsa-miR-211	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2531194	hsa-miR-302a	CLIP-seq
MIRT2531195	hsa-miR-302b	CLIP-seq
MIRT2531196	hsa-miR-302c	CLIP-seq
MIRT2531197	hsa-miR-302d	CLIP-seq
MIRT2531198	hsa-miR-302e	CLIP-seq
MIRT2428757	hsa-miR-3064-5p	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437210	hsa-miR-3117-5p	CLIP-seq
MIRT2428759	hsa-miR-3126-3p	CLIP-seq
MIRT2437211	hsa-miR-3614-3p	CLIP-seq
MIRT2437212	hsa-miR-3662	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437214	hsa-miR-3691-3p	CLIP-seq
MIRT2531199	hsa-miR-372	CLIP-seq
MIRT2531200	hsa-miR-373	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2437215	hsa-miR-378g	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2680817	hsa-miR-421	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2437218	hsa-miR-4437	CLIP-seq
MIRT2531201	hsa-miR-4438	CLIP-seq
MIRT2437219	hsa-miR-4446-5p	CLIP-seq
MIRT2428762	hsa-miR-4666-5p	CLIP-seq
MIRT2437220	hsa-miR-4674	CLIP-seq
MIRT2680818	hsa-miR-4709-5p	CLIP-seq
MIRT2531202	hsa-miR-4711-3p	CLIP-seq
MIRT2437221	hsa-miR-4755-5p	CLIP-seq
MIRT2680819	hsa-miR-4778-5p	CLIP-seq
MIRT2428763	hsa-miR-4781-3p	CLIP-seq
MIRT2428764	hsa-miR-4794	CLIP-seq
MIRT2428765	hsa-miR-499-3p	CLIP-seq
MIRT2428766	hsa-miR-499a-3p	CLIP-seq
MIRT2531203	hsa-miR-511	CLIP-seq
MIRT2531204	hsa-miR-520a-3p	CLIP-seq
MIRT2531205	hsa-miR-520b	CLIP-seq
MIRT2531206	hsa-miR-520c-3p	CLIP-seq
MIRT2531207	hsa-miR-520d-3p	CLIP-seq
MIRT2531208	hsa-miR-520e	CLIP-seq
MIRT2437222	hsa-miR-623	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2428771	hsa-miR-664	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP1	Unknown	11829738
SP3	Unknown	11829738

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001933	Process	Negative regulation of protein phosphorylation	IDA	11792823
GO:0001968	Function	Fibronectin binding	IPI	1400330, 9278415
GO:0005178	Function	Integrin binding	IDA	25661773
GO:0005178	Function	Integrin binding	IPI	25661773
GO:0005201	Function	Extracellular matrix structural constituent	IDA	2269669
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 28327460, 28675934
GO:0005509	Function	Calcium ion binding	IDA	9278415
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9927660, 11238726, 12200142, 32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IDA	2269669
GO:0007162	Process	Negative regulation of cell adhesion	IDA	11792823
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	11792823
GO:0007566	Process	Embryo implantation	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	25834989
GO:0016504	Function	Peptidase activator activity	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IDA	2269669
GO:0031012	Component	Extracellular matrix	IEA
GO:0042802	Function	Identical protein binding	IDA	1400330, 9278415, 25661773
GO:0042802	Function	Identical protein binding	IPI	25661773
GO:0044877	Function	Protein-containing complex binding	IPI	7642629
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	25834989
GO:0070051	Function	Fibrinogen binding	IPI	7642629
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IDA	11792823
GO:0071635	Process	Negative regulation of transforming growth factor beta production	IDA	25834989
GO:0071953	Component	Elastic fiber	IDA	7534784
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	7642629
GO:1900025	Process	Negative regulation of substrate adhesion-dependent cell spreading	IDA	11792823
GO:1904188	Process	Negative regulation of transformation of host cell by virus	IMP	12200142
GO:1904237	Process	Positive regulation of substrate-dependent cell migration, cell attachment to substrate	IDA	25834989
GO:2000146	Process	Negative regulation of cell motility	IDA	11792823
GO:2000647	Process	Negative regulation of stem cell proliferation	IDA	11238726

MIM	HGNC	e!Ensembl
135820	3600	ENSG00000077942

P23142

Protein name

Fibulin-1 (FIBL-1)

Protein function

Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07645	EGF_CA	216 → 260	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	262 → 306	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	308 → 354	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	356 → 397	Calcium-binding EGF domain	Domain
PF12662	cEGF	421 → 444	Complement Clr-like EGF-like	Domain
PF12662	cEGF	460 → 484	Complement Clr-like EGF-like	Domain
PF12662	cEGF	504 → 528	Complement Clr-like EGF-like	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform A and isoform B are only expressed in placenta. Isoform C and isoform D are expressed in a variety of tissues and cultured cells. {ECO:0000269|PubMed:9106159}.

Sequence

MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKE
CRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQ
AQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRC
RGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSF
RCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQ
DALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDEC
APPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLG
SYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCE
DIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINE
TCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTV
ISLPTFREFTRPEEIIFLRAITPPHPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVV
RQVRPIVGPFHAVLKLEMNYVVGGVVSHRNVVNVHIFVSEYWF

Sequence length

703

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Molecules associated with elastic fibres

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arthrogryposis multiplex congenita	Uncertain significance	rs770004900	RCV000855496
Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects	Conflicting classifications of pathogenicity	rs397509432	RCV000054444
Cervical cancer	Uncertain significance	rs145471003	RCV005925718
Cholangiocarcinoma	Benign	rs2071870	RCV005917149
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs376859742	RCV004560272
FBLN1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs145471003, rs151076402, rs376739185, rs141549958, rs142798380, rs200614579, rs375160844, rs199802935, rs143377110, rs140586412, rs766511464, rs112501521, rs144043387, rs367929911, rs2518125760 View all (12 more)	RCV003948879 RCV003911183 RCV003923498 RCV003911168 RCV003917615 RCV003926493 RCV003963404 RCV004757190 RCV003920075 RCV003957426 RCV003967763 RCV003929121 RCV003919266 RCV003939109 RCV003896913 RCV003923954 RCV003914004 RCV003959656 RCV003941365 RCV003943861 RCV003949776 RCV003939326 RCV003947034 RCV003954589 RCV003945448 RCV003967960 RCV003913142
Fetal akinesia deformation sequence 1	Uncertain significance	rs770004900	RCV000855496
Hepatocellular carcinoma	Benign	rs2071938	RCV005921751
Lung cancer	Benign	rs2071870	RCV005917150
Synpolydactyly type 2	Uncertain significance; Benign; Likely benign	rs1017133697, rs9682, rs136730, rs146772136, rs765733819, rs142867241	RCV001332774 RCV001702936 RCV001702191 RCV003146487 RCV003340712 RCV002489423
Uterine carcinosarcoma	Benign	rs2071870	RCV005917148

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	35008745
Adenocarcinoma	Associate	28640357
Adenoma	Associate	24516561
Amyotrophic Lateral Sclerosis	Associate	32792518
Aortic Coarctation	Stimulate	32430056
Aortic Diseases	Associate	29867203
Bernard Soulier Syndrome	Associate	14635206
Bone Diseases Metabolic	Associate	36077598
Breast Neoplasms	Associate	12644824, 36361532, 37056938
Carcinogenesis	Associate	30266493
Carcinoma Hepatocellular	Inhibit	28333958
Carcinoma Ovarian Epithelial	Associate	9811350
Cardiovascular Diseases	Associate	23294625
Cholangiocarcinoma	Associate	30266493
Colorectal Neoplasms	Associate	24516561, 25837757
Coronary Artery Disease	Associate	26507503
Cryptorchidism	Associate	24084572
Diabetes Mellitus	Stimulate	21926180
Diabetes Mellitus	Associate	23294625
Diabetes Mellitus Type 2	Associate	21926180, 26507503
Diabetic Nephropathies	Associate	33887734
Endometriosis	Stimulate	35127942
Fetal akinesia syndrome X linked	Associate	31680123
Fibrosarcoma	Inhibit	12644824
Fibrosis	Associate	28068900
Frontotemporal Dementia	Associate	32792518
Glaucoma Open Angle	Inhibit	19145252
Glioma	Associate	24158112
Glucose Metabolism Disorders	Stimulate	28068900
Heart Failure	Associate	28068900
Intellectual Disability	Associate	24084572
Kashin Beck Disease	Associate	29242531
Kidney Diseases	Stimulate	23294625
Leukemia Megakaryoblastic Acute	Associate	28640357
Liver Failure	Associate	31860081
Loeys Dietz Syndrome	Associate	21267002
Melanoma	Inhibit	33470885
Melanoma Cutaneous Malignant	Associate	23907575
Meningitis Bacterial	Associate	20386697
Microphthalmia Syndromic 10	Associate	24084572
Multiple Myeloma	Stimulate	34871540
MYH9 Related Disorders	Associate	14635206
Myotonic Dystrophy	Stimulate	28068900
Neoplasm Metastasis	Associate	30266493, 8552629
Neoplasms	Inhibit	23907575, 25837757
Neoplasms	Associate	24516561, 30266493, 36361532, 9811350
Neoplasms Cystic Mucinous and Serous	Stimulate	9811350
Osteoarthropathy Primary Hypertrophic	Associate	32430056
Osteoporosis	Associate	36077598
Osteosarcoma	Associate	20340016
Ovarian Cysts	Associate	8552629
Ovarian Neoplasms	Associate	8552629, 9811350
Peripheral Arterial Disease	Associate	26507503
Premature Birth	Inhibit	37356366
Prostatic Neoplasms	Associate	17280610, 21804603, 31376183
Prostatitis	Associate	21804603
Renal Insufficiency Chronic	Associate	23294625
Retinal Dystrophies	Associate	12912698
Spondylitis Ankylosing	Stimulate	40591022
Stiff Skin Syndrome	Associate	26507503
Stomach Neoplasms	Inhibit	18985039
Syndactyly	Associate	24084572
Syndactyly type 2	Associate	31792352
Uterine Diseases	Associate	35127942

FBLN1 (fibulin 1)