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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FBLN1 Gene

protein-coding GIFtS: 63
GCID: GC22P045898

fibulin 1

Explore 26 diseases affiliated with
FBLN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fibulin 1¹ ²
FBLN¹ ²
FIBL1²
Fibulin-1¹
FIBL-1³

External Ids:	HGNC: 3600¹	Entrez Gene: 2192²	Ensembl: ENSG00000077942⁷	OMIM: 135820⁵	UniProtKB: P23142³

Export aliases for FBLN1 gene to outside databases

Previous GC identifers: GC22P042534 GC22P044175 GC22P044219 GC22P028859

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FBLN1:

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)

UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142

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 supramolecular organization of ECM architecture, in particular to those of basement membranes. Has

been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play

a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a

significant role in modulating the neurotrophic activities of APP, particularly soluble APP

Gene Wiki entry for FBLN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FBLN1 gene promoter:
AP-2alpha isoform 3 AP-2alpha isoform 2 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FBLN1 promoter sequence

Search SABiosciences Chromatin IP Primers for FBLN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBLN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.31 Ensembl cytogenetic band: 22q13.31 HGNC cytogenetic band: 22q13.31

FBLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBLN1 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P045898: view genomic region (about GC identifiers)

Start:	45,898,118 bp from pter	End:	45,997,015 bp from pter
Size:	98,898 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142 (See protein sequence)

Recommended Name: Fibulin-1 precursor

Size: 703 amino acids; 77214 Da

Subunit: Homomultimerizes and interacts with various extracellular matrix components such as FN1, LAMA1, LAMA2, NID,

ACAN, CSPG2 and type IV collagen. Interacts also with APP, NOV, FGB and HPV type 16, HPV type 18, HPV type 31 and BPV

type 1 E6 proteins. Interacts with FBLN7 (By similarity)

Subcellular location: Secreted, extracellular space, extracellular matrix

Developmental stage: Widely expressed during embryonic development. Prominent in the matrix of the leptomeningeal

anlage, in basement membranes of the neuroepithelium and the perineurium of peripheral nerves. In embryos of

gestational week (gw) 4, staining was observed in the early mesenchymal bone anlagen. In gw 6.5 and 8, all

perichondrial structures showed expression but the chondrocytes themselves showed no staining. In gw 10, expression is

prominent in the interterritorial matrix surrounding the hypertrophic chondrocytes

Sequence caution: Sequence=AAG17241.1; Type=Frameshift; Positions=116, 619, 639;

Secondary accessions: B0QY42 P23143 P23144 P37888 Q5TIC4 Q8TBH8 Q9HBQ5 Q9UC21 Q9UGR4 Q9UH41

Alternative splicing: 4 isoforms: P23142-1 P23142-2 P23142-3 P23142-4 (Ref.4 (AAG17241) sequence is in conflict in positions: 650:E->K, 662:L->F, 680:SAE->FAK)

Explore the universe of human proteins at neXtProt for FBLN1: NX_P23142

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23142

FBLN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001987.2 NP_006476.2 NP_006477.2 NP_006478.2

ENSEMBL proteins:

ENSP00000415289 ENSP00000404024 ENSP00000402963 ENSP00000385521 ENSP00000262722

ENSP00000331544 ENSP00000393812 ENSP00000342212 ENSP00000395329 ENSP00000396084

ENSP00000414584 ENSP00000415160 ENSP00000401077 ENSP00000262723

Reactome Protein details: P23142
Human Recombinant Protein Products:

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	Uscn Proteins for FBLN1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005578	proteinaceous extracellular matrix	TAS	2269669
GO:0005604	basement membrane	IEA	--
GO:0005615	extracellular space	IDA	--
GO:0005625	soluble fraction	--	--

FBLN1 for ontologies About GeneDecksing

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	Uscn Antibodies for FBLN1
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Assay Products for FBLN1:

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	Uscn ELISAs and CLIAs for FBLN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FBLN1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR000742 EG-like_dom

IPR026823 cEGF

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

IPR001881 EGF-like_Ca-bd

Graphical View of Domain Structure for InterPro Entry P23142

ProtoNet protein and cluster: P23142

2 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001881 EGF-like calcium-binding

UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142

Similarity: Belongs to the fibulin family

Similarity: Contains 3 anaphylatoxin-like domains

Similarity: Contains 9 EGF-like domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142

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 supramolecular organization of ECM architecture, in particular to those of basement membranes. Has

been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play

a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a

significant role in modulating the neurotrophic activities of APP, particularly soluble APP

Induction: Expression increased by estrogen in ovarian cancer cells

Genatlas biochemistry entry for FBLN1:

fibulin 1,calcium binding,extracellular matrix protein (90-100kDa),prominently expressed in endocardium during

development

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	TAS	2269669
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	--	--
GO:0016504	peptidase activator activity	IEA	--

FBLN1 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for FBLN1:

Decreased viability of wild-ty

Decreased viability with carbo

Decreased viability with pacli

High actin ratio cells

Animal Models:
Mouse knock-out Fbln1^tm1Tmpl for FBLN1
15 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fbln1):

cardiovascular system	craniofacial	embryogenesis	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	hematopoietic system	immune system	integument	limbs/digits/tail
mortality/aging	nervous system	renal/urinary system	respiratory system	skeleton

FBLN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Cell-matrix glycoconjugates

Cell adhesion_Cell-matrix glycoconjugates

1.00

Cell adhesion Cell-matrix glycoconjugates

0.97

Elastic fibre formation

Elastic fibre formation

1.00

Molecules associated with elastic fibres

0.84

Collagen formation

Extracellular matrix organization

0.54

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for FBLN1

Cell adhesion Cell-matrix glycoconjugates

1 GeneGo (Thomson Reuters) Pathway for FBLN1

Cell adhesion Cell-matrix glycoconjugates

3 Reactome Pathways for FBLN1

	Molecules associated with elastic fibres
	Extracellular matrix organization
	Elastic fibre formation

FBLN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FBLN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/44 Interacting proteins for FBLN1 (P23142^{2, 3} ENSP00000331544⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GFI1B	Q5VTD9²^,³, ENSP00000344782⁴	MINT-2858799 I2D: score=3 STRING: ENSP00000344782
ATN1	P54259²^,³, ENSP00000349076⁴	MINT-2858780 MINT-2858761 I2D: score=3 STRING: ENSP00000349076
SKIL	P12757²^,³, ENSP00000259119⁴	MINT-61641 I2D: score=3 STRING: ENSP00000259119
SMAD4	Q13485²^,³, ENSP00000341551⁴	MINT-61947 I2D: score=3 STRING: ENSP00000341551
APP	P05067³, ENSP00000284981⁴	I2D: score=3 STRING: ENSP00000284981

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007566	embryo implantation	IEA	--
GO:0010952	positive regulation of peptidase activity	--	--
GO:0019048	virus-host interaction	IEA	--
GO:0030198	extracellular matrix organization	IEA	--
GO:0044419	interspecies interaction between organisms	--	--

FBLN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FBLN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FBLN1
8 Novoseek chemical compound relationships for FBLN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neurocan	72.1	1	10400671 (1)
matrigel	31.1	2	17483339 (2)
estrogen	28.2	9	9811350 (3), 9699869 (1), 9841098 (1), 10465000 (1) (see all 6)
estradiol	28.1	7	9466671 (4), 11850827 (2), 8552629 (1)
fibrinogen	24.9	28	8839849 (8), 7642629 (7), 19693531 (5), 9278415 (1)
progesterone	21.8	5	15774544 (2), 9811350 (1), 14503970 (1), 10465000 (1)
calcium	9.4	10	9278415 (5), 8737292 (1), 9299350 (1), 15556863 (1)
heparin	0	1	11733994 (1)

Search CenterWatch for drugs/clinical trials and news about FBLN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FBLN1 gene (4 alternative transcripts):

NM_001996.3 NM_006485.3 NM_006486.2 NM_006487.2

Unigene Cluster for FBLN1:

Fibulin 1

Hs.24601 [show with all ESTs]

Unigene Representative Sequence: AK128725

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000411478 ENST00000445110 ENST00000455233 ENST00000402984(uc010gzz.3)

ENST00000262722(uc003bgh.3) ENST00000327858(uc003bgj.1) ENST00000442170(uc003bgi.1)

ENST00000340923(uc003bgg.1) ENST00000439835 ENST00000450975 ENST00000454279

ENST00000451475 ENST00000437711 ENST00000460538 ENST00000465578 ENST00000484531

ENST00000476366 ENST00000460300

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		hsa-miR-1283 hsa-miR-24 hsa-miR-1305
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Additional cDNA sequence:

AF126110.1 AF217999.1 AK075460.1 AK075566.1 AK093339.1 AK095988.1 AK128725.1 AK300806.1

AK316291.1 BC022497.1 BC131605.1 U01244.1 X53741.1 X53742.1 X53743.1

24/77 DOTS entries (see all 77):

DT.100842172 DT.91774959 DT.100890902 DT.100890919 DT.86854843 DT.100890993 DT.87078245 DT.100773181

DT.100890966 DT.100890953 DT.100840815 DT.100045388 DT.100890926 DT.100890964 DT.100833913 DT.100890994

DT.100890974 DT.120662483 DT.100890931 DT.120662380 DT.120662400 DT.100890927 DT.100891020 DT.120662497

24/1331 AceView cDNA sequences (see all 1331):

AW189603 BQ673107 CR609828 BU608490 BU849638 BQ573892 H55193 R41668

AA347515 CR621956 CR601756 F05479 CR620925 BQ669357 AA972861 D58449

AI167845 BG827383 AW069207 AI251132 BU553363 CR599841 BF992494 CA488527

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for FBLN1 (see all 9) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17	^
SP1:							-												-												-																		-		-
SP2:							-				-		-						-												-																		-		-
SP3:																			-												-																		-
SP4:							-												-												-																		-
SP5:							-												-												-																		-		-

ExUns:	18	^	19	^	20a	·	20b	^	21	^	22a	·	22b
SP1:	-								-
SP2:	-								-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for FBLN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FBLN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCTGGCCA

About this image

FBLN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Endocardial Cushion

Endocardial Cushion Cells

Selective marker (cell-identifying gene)

Endocardium

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Brain

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

See FBLN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBLN1

SOURCE GeneReport for Unigene cluster: Hs.24601

UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142

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

SABiosciences Custom PCR Arrays for FBLN1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FBLN1 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FBLN1¹	fibulin 1	71.97(n) 74.13(a)		373979 NM_204165.1 NP_989496.1
lizard (Anolis carolinensis)	Reptilia	FBLN1⁶	--	72(a)	1 ↔ 1	5(84104288-84190007)
African clawed frog (Xenopus laevis)	Amphibia	Xl.15054²	Xenopus laevis, clone IMAGE4888121, mRNA	78.09(n)		BC043745.1
zebrafish (Danio rerio)	Actinopterygii	fbln1²	fibulin 1	76.62(n)		30240 AF013751.1
fruit fly (Drosophila melanogaster)	Insecta	CG31999⁶	--	18(a)	possible ortholog	4(235635-246582)
worm (Caenorhabditis elegans)	Secernentea	fbl-1¹	Protein FBL-1	44.17(n) 37.73(a)		177788 NM_001028066.3 NP_001023237.1

ENSEMBL Gene Tree for FBLN1 (if available)
TreeFam Gene Tree for FBLN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for FBLN1 gene

FBN1² LTBP3² SCUBE3² FBN3² FBLN5² FBN2² LTBP4² EFEMP1²

SCUBE1² EFEMP2² LTBP2² LTBP1² FBLN2² SCUBE2²

13 SIMAP similar genes for FBLN1 using alignment to 12 protein entries: FBLN1_HUMAN (see all proteins):

DKFZp762L185 F9 PROS1 NELL2 DKFZp586A1519 HMCN2

FBN3 FBLN7 FBLN5 FBLN2 HMCN1 MBP1

EFEMP2

FBLN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75404533^1,2	C,	--	28843498(+)	`TCTTGC/ACTTTT`	4	--	us2k¹		2	WA	120
rs62224998^1,2	C,F,	--	28843512(+)	`TAAATG/AGAATC`	4	--	us2k¹		5	NA WA EA	362
rs112428630^1,2	C,	--	28843563(+)	`ACTTAC/TGTCTG`	4	--	us2k¹		2	CSA WA	120
rs73889991^1,2	C,	--	28843683(+)	`CCCAAT/CTGGAG`	4	--	us2k¹		2	WA	120
rs113911031^1,2		--	28843777(+)	`GGCGTC/TGGTGG`	4	--	us2k¹		2	CSA WA	120
rs7292107^1,2	C,F,	--	28844100(+)	`TGTTGG/ACCTGG`	4	--	us2k¹		1	WA	118
rs9614690^1,2	C,F,	--	28844204(+)	`CGGGGT/ATGGCG`	4	--	us2k¹		6	NA CSA WA EA	363
rs112926264^1,2		--	28845074(+)	`AAGAGC/TAGATC`	4	--	int¹		2	CSA WA	120
rs6007065^1,2	F,H,	--	28845193(+)	`GGGGGA/CCTGCC`	4	--	int¹		6	NS EA WA NA	656
rs73889999^1,2	C,	--	28845924(+)	`GCCCCG/CGAGTC`	4	--	int¹		2	WA	120

HapMap Linkage Disequilibrium report for FBLN1 (45898118 - 45997015 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for FBLN1
4 CNVs: 8906 31097 4132 3244
6 Indels: 41780 12267 46239 42294 12268 103195
Human Gene Mutation Database (HGMD): FBLN1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBLN1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FBLN1 for disorders           About GeneDecksing

OMIM gene information: 135820
OMIM disorders: 608180
UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142

Note=A chromosomal aberration involving FBLN1 is found in a complex type of synpolydactyly referred to as

3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation

t(12;22)(p11.2;q13.3) with RASSF8. Fibroblasts derived from a patient with synpolydactyly displayed alterations in the

level of isoform D splice variant incorporated into the ECM and secreted into the conditioned culture medium. By

contrast, the expression of isoform C was not perturbed in the patients fibroblasts. Furthermore, no aberrant

polypeptides were detected in extracts of cultured patients fibroblasts. The translocation t(12;22) may result in

haploinsufficiency of the isoform D splice variant, which could lead to the observed limb malformation

Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer

20/26 diseases for FBLN1 (see all 26): About MalaCards

synpolydactyly, 3/34, associated with metacarpal and metatarsal synostoses megalencephalic leukoencephalopathy with subcortical cysts synpolydactyly 3 synpolydactyly

dupuytren contracture vitreoretinal dystrophy macular degeneration epithelial ovarian cancer

ovarian cancer multiple sclerosis breast cancer fibrosarcoma

liver disease leiomyoma thrombosis hepatocellular carcinoma

choroiditis gastric cancer pharyngitis carcinoma

1 disease from the University of Copenhagen DISEASES database for FBLN1:

Vitreoretinal dystrophy

8 Novoseek disease relationships for FBLN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ovarian cancer	34.7	9	8552629 (4), 9699869 (1), 9841098 (1), 11850827 (1)
breast carcinoma	28.7	6	12858331 (2), 14691454 (2), 12160330 (1)
breast cancer	23	18	17483339 (4), 14691454 (3), 12858331 (2), 15528301 (2) (see all 9)
cysts	9.35	1	8552629 (1)
metastasis	7.64	1	8552629 (1)
tumors	6.31	12	18222970 (3), 9811350 (2), 9466671 (2), 12200142 (1) (see all 6)
carcinoma	5.25	4	9811350 (2), 17929269 (1), 7534784 (1)
cancer	1.74	8	11829738 (1), 9811350 (1), 12858331 (1), 17929269 (1) (see all 6)

Human Genome Epidemiology (HuGE) Navigator: FBLN1 (3 documents)

Export disorders for FBLN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FBLN1 gene, integrated from 9 sources (see all 133):
(articles sorted by number of sources associating them with FBLN1)

Utopia: connect your pdf to the dynamic
world of online information

Fibulin binds to itself and to the carboxyl-terminal heparin-binding region of fibronectin. (PubMed id 1400330)^{1, 2, 3} Balbona K....Argraves W.S. (1992)
Fibulin is an extracellular matrix and plasma glycoprotein with repeated domain structure. (PubMed id 2269669)^{1, 2, 3} Argraves W.S.... Dickerson K. (1990)
The interaction of fibulin-1 with fibrinogen. A potential role in hemostasis and thrombosis. (PubMed id 7642629)^{1, 2, 9} Tran H....Argraves W.S. (1995)
The self-association and fibronectin-binding sites of fibulin-1 map to calcium-binding epidermal growth factor-like domains. (PubMed id 9278415)^{1, 2, 9} Tran H.... Argraves W.S. (1997)
Increased immunostaining of fibulin-1, an estrogen-regulated protein in the stroma of human ovarian epithelial tumors. (PubMed id 9811350)^{1, 2, 9} Roger P.... Rochefort H. (1998)
Interaction of oncogenic papillomavirus E6 proteins with fibulin-1. (PubMed id 12200142)^{1, 2, 9} Du M.... Chen J.J. (2002)
Estradiol and fibulin-1 inhibit motility of human ovarian- and breast-cancer cells induced by fibronectin. (PubMed id 9466671)^{1, 2, 9} Hayashido Y....Rochefort H. (1998)
The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study. (PubMed id 7534784)^{1, 2, 9} Roark E.F....Argraves W.S. (1995)
Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family. (PubMed id 9106159)^{1, 2, 9} Tran H.... Argraves W.S. (1997)
Estrogens increase the expression of fibulin-1, an extracellular matrix protein secreted by human ovarian cancer cells. (PubMed id 8552629)^{1, 2, 9} Clinton G.M.... Rochefort H. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2192	HGNC: 3600	AceView: FBLN1	Ensembl:ENSG00000077942	euGenes: HUgn2192
ECgene: FBLN1	H-InvDB: FBLN1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FBLN1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FBLN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FBLN1 gene:
Search GeneIP for patents involving FBLN1

GeneCards and IP:
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