GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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FBLN1 (fibulin 1)

Gene

2192

Fibulin 1

FBLN1

FBLN, FIBL1

22q13.31

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

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

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
SP1	Unknown	11829738
SP3	Unknown	11829738

Show/Hide all(30)

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: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:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
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:0008022	Function	Protein C-terminus binding	IPI	11238726
GO:0010952	Process	Positive regulation of peptidase activity	IEA
GO:0016032	Process	Viral process	IEA
GO:0016504	Function	Peptidase activator activity	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IDA	2269669
GO:0042802	Function	Identical protein binding	IDA	1400330, 9278415, 25661773
GO:0044877	Function	Protein-containing complex binding	IPI	7642629
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
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: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: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

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	dbSNP ID	References
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17929269
Synpolydactyly	Synpolydactyly 2, Synpolydactyly type 2	rs878854343, rs878854344, rs764838478, rs28933082, rs878854345, rs121912541, rs878854400, rs879255265, rs886037831, rs200750564	22448207, 24084572, 11836357

Show/Hide Unknown Diseases (8)

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		22365631
Carpal synostosis	Carpal synostosis
Developmental delay-central nervous system anomaly-syndactyly syndrome	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Endometrioma	Endometrioma		20864642
Endometriosis	Endometriosis	rs1800629, rs1143634	20864642
Prostatic neoplasms	Prostatic Neoplasms		17929269
Syndactyly of the toes	Syndactyly of the toes
Tarsal coalition	Tarsal Coalition

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