FBLN1 fibulin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBLN1provided by HGNC
Official Full Name: fibulin 1provided by HGNC
Primary source: HGNC:HGNC:3600
See related: Ensembl:ENSG00000077942 MIM:135820; AllianceGenome:HGNC:3600
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FBLN; FIBL1
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]
Expression: Broad expression in gall bladder (RPKM 239.4), placenta (RPKM 204.3) and 16 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 22q13.31

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (45502883..45601135)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (45987730..46085865)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (45898763..45997015)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Upregulated Fibulin-1 Increased Endometrial Stromal Cell Viability and Migration by Repressing EFEMP1-Dependent Ferroptosis in Endometriosis.
Title: Upregulated Fibulin-1 Increased Endometrial Stromal Cell Viability and Migration by Repressing EFEMP1-Dependent Ferroptosis in Endometriosis.
Role of fibulin-1 gene promoter methylation in the carcinogenesis and development of tongue squamous cell carcinoma.
Title: Role of fibulin-1 gene promoter methylation in the carcinogenesis and development of tongue squamous cell carcinoma.
FBLN1 promotes chondrocyte proliferation by increasing phosphorylation of Smad2.
Title: FBLN1 promotes chondrocyte proliferation by increasing phosphorylation of Smad2.
Act of fibulin-1 in preeclamptic patients: can it be a predictive marker?
Title: Act of fibulin-1 in preeclamptic patients: can it be a predictive marker?
Low level of plasma fibulin-1 in patients with thyroid lesions: a case-control study and literature review.
Title: Low level of plasma fibulin-1 in patients with thyroid lesions: a case-control study and literature review.
Identifying FBLN1 (Gene ID: 2192) as a Potential Melanoma Biomarker for Melanoma based on an Analysis of microRNA Expression Profiles in the GEO and TCGA Databases.
Title: Identifying FBLN1 (Gene ID: 2192) as a Potential Melanoma Biomarker for Melanoma based on an Analysis of microRNA Expression Profiles in the GEO and TCGA Databases.
Fibulin-1c regulates transforming growth factor-beta activation in pulmonary tissue fibrosis.
Title: Fibulin-1c regulates transforming growth factor-β activation in pulmonary tissue fibrosis.
Fibulin-1 and -5 measurements might be used to exclude non-ST-elevation myocardial infarction (NSTEMI) in patients admitted to the emergency department with acute chest pain.
Title: Fibulin‑1 and fibulin‑5 as rule‑out tests for non-ST‑elevation myocardial infarction in the emergency setting.
tumor biomarker fibulin 1 as part of a four gene transcript score has prognostic value for metastatic-lethal progression in men treated for localized prostate cancer
Title: A four-gene transcript score to predict metastatic-lethal progression in men treated for localized prostate cancer: Development and validation studies.
These findings suggest that aggrecan and fibulin-1 have critical roles in determining the biomechanics of the aorta and their modification with age could underpin age-related aortic stiffening.
Title: The matrix proteins aggrecan and fibulin-1 play a key role in determining aortic stiffness.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Synpolydactyly type 2 MedGen: C1842422 OMIM: 608180 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-11380 (e-PCR)
- UniSTS:71438

D22S1238 (e-PCR)
- UniSTS:14664

AL021648 (e-PCR)
- UniSTS:12368

D22S1102 (e-PCR)
- UniSTS:26454

G65370 (e-PCR)
- UniSTS:166502

G65371 (e-PCR)
- UniSTS:166503

G65372 (e-PCR)
- UniSTS:166504

G65373 (e-PCR)
- UniSTS:166505

G65369 (e-PCR)
- UniSTS:166506

G59664 (e-PCR)
- UniSTS:136818

G62037 (e-PCR)
- UniSTS:139130

G06348 (e-PCR)
- UniSTS:62875

RH15754 (e-PCR)
- UniSTS:87222

WIAF-1606 (e-PCR)
- UniSTS:90046

D22S444 (e-PCR), detects polymorphism
- UniSTS:82122

PMC115182P4 (e-PCR)
- UniSTS:270289

G60177 (e-PCR)
- UniSTS:137436

D22S1237 (e-PCR)
- UniSTS:18400

G49289 (e-PCR)
- UniSTS:109045

G49290 (e-PCR)
- UniSTS:109046

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables fibrinogen binding	IPI Inferred from Physical Interaction more info	PubMed
enables fibronectin binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptidase activator activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation, fibrin clot formation	IDA Inferred from Direct Assay more info	PubMed
involved_in embryo implantation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
NOT involved_in integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell motility	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of stem cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in elastic fiber	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: fibulin-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023308.3 RefSeqGene

Range

5002..103254

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001996.4 → NP_001987.3 fibulin-1 isoform C precursor

Status: REVIEWED

Description

Transcript Variant: This variant (C) has an alternate 3' sequence, as compared to variant D. The encoded isoform C is shorter and has a distinct C-terminus, as compared to isoform D.

Source sequence(s)

AL021391, Z95331, Z98047

Consensus CDS

CCDS14069.1

UniProtKB/TrEMBL

A0A8S0LWY1, A0A8S0MAG0

Related

ENSP00000262722.7, ENST00000262722.11

Conserved Domains (6) summary

smart00179
Location:356 → 389

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:30 → 79

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:216 → 259

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:504 → 528

cEGF; Complement Clr-like EGF-like

cl00057
Location:395 → 438

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:262 → 298

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
NM_006485.4 → NP_006476.3 fibulin-1 isoform B precursor

Status: REVIEWED

Description

Transcript Variant: This variant (B) has an alternate 3' sequence, as compared to variant D. The encoded isoform B is shorter and has a distinct C-terminus, as compared to isoform D.

Source sequence(s)

AL021391, Z95331, Z98047

Consensus CDS

CCDS14068.1

UniProtKB/TrEMBL

A0A8S0MAG0

Related

ENSP00000393812.2, ENST00000442170.6

Conserved Domains (7) summary

smart00179
Location:356 → 389

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:30 → 79

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:216 → 259

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:504 → 528

cEGF; Complement Clr-like EGF-like

cl00032
Location:97 → 152

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

cl00057
Location:479 → 522

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:525 → 561

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
NM_006486.3 → NP_006477.3 fibulin-1 isoform D precursor

Status: REVIEWED

Description

Transcript Variant: This variant (D) encodes the longest isoform (D).

Source sequence(s)

AL021391, Z95331, Z98047

Consensus CDS

CCDS14067.1

UniProtKB/Swiss-Prot

B0QY42, B1AHL4, P23142, P23143, P23144, P37888, Q5TIC4, Q8TBH8, Q9HBQ5, Q9UC21, Q9UGR4, Q9UH41

UniProtKB/TrEMBL

Q8NBH6

Related

ENSP00000331544.6, ENST00000327858.11

Conserved Domains (7) summary

smart00179
Location:308 → 355

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:30 → 79

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

cd00054
Location:356 → 389

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam07645
Location:216 → 259

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:504 → 528

cEGF; Complement Clr-like EGF-like

cl00057
Location:479 → 522

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:262 → 298

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
NM_006487.3 → NP_006478.3 fibulin-1 isoform A precursor

Status: REVIEWED

Description

Transcript Variant: This variant (A) has an alternate 3' sequence, as compared to variant D. The encoded isoform A is the shortest among the four isoforms, and it has a distinct C-terminus, as compared to isoform A.

Source sequence(s)

AL021391, Z95331, Z98047

Consensus CDS

CCDS43028.1

UniProtKB/TrEMBL

A0A8S0MAG0

Related

ENSP00000342212.5, ENST00000340923.9

Conserved Domains (7) summary

smart00179
Location:356 → 389

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:30 → 79

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:216 → 259

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:504 → 528

cEGF; Complement Clr-like EGF-like

cl00032
Location:97 → 152

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

cl00057
Location:479 → 522

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:525 → 561

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...