FBN1 fibrillin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBN1provided by HGNC
Official Full Name: fibrillin 1provided by HGNC
Primary source: HGNC:HGNC:3603
See related: Ensembl:ENSG00000166147 MIM:134797; AllianceGenome:HGNC:3603
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: FBN; SGS; WMS; MASS; MFLS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2
Summary: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
Expression: Broad expression in placenta (RPKM 47.2), fat (RPKM 27.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.1

Exon count:: 68

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (48408313..48645709, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (46216487..46453900, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (48700510..48937906, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.
Title: A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.
[Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].
Title: [Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].
Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population.
Title: Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population.
Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.
Title: Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Title: Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
The correlation between serum asprosin and left ventricular diastolic dysfunction in elderly patients with type 2 diabetes mellitus in the community.
Title: The correlation between serum asprosin and left ventricular diastolic dysfunction in elderly patients with type 2 diabetes mellitus in the community.
The mediation effect of asprosin on the association between ambient air pollution and diabetes mellitus in the elderly population in Taiyuan, China.
Title: The mediation effect of asprosin on the association between ambient air pollution and diabetes mellitus in the elderly population in Taiyuan, China.
[Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene].
Title: [Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene].
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.
Title: Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.
Role of asprosin and meteorin-like peptide in progression of actinic keratosis to squamous cell carcinoma.
Title: Role of asprosin and meteorin-like peptide in progression of actinic keratosis to squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (390)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in FBN1 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Acromicric dysplasia MedGen: C0265287 OMIM: 102370 GeneReviews: Not available	Compare labs
Ectopia lentis 1, isolated, autosomal dominant MedGen: C3541518 OMIM: 129600 GeneReviews: Not available	Compare labs
Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243 GeneReviews: Heritable Thoracic Aortic Disease Overview	Compare labs
Geleophysic dysplasia 2 MedGen: C3280054 OMIM: 614185 GeneReviews: Geleophysic Dysplasia	Compare labs
Marfan syndrome MedGen: C0024796 OMIM: 154700 GeneReviews: FBN1-Related Marfan Syndrome	Compare labs
MASS syndrome MedGen: C1858556 OMIM: 604308 GeneReviews: Not available	Compare labs
Progeroid and marfanoid aspect-lipodystrophy syndrome MedGen: C4310796 OMIM: 616914 GeneReviews: Not available	Compare labs
Stiff skin syndrome MedGen: C1861456 OMIM: 184900 GeneReviews: Not available	Compare labs
Weill-Marchesani syndrome 2, dominant MedGen: C1869115 OMIM: 608328 GeneReviews: Weill-Marchesani Syndrome	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-12-04) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-04) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:455155 (e-PCR)
- UniSTS:157454

GDB:455176 (e-PCR)
- UniSTS:157455

RH45512 (e-PCR)
- UniSTS:70166

SHGC-81440 (e-PCR)
- UniSTS:103195

G64181 (e-PCR)
- UniSTS:146719

G64182 (e-PCR)
- UniSTS:146720

G64177 (e-PCR)
- UniSTS:146721

G64180 (e-PCR)
- UniSTS:146722

G64163 (e-PCR)
- UniSTS:146723

G64179 (e-PCR)
- UniSTS:146724

G63904 (e-PCR)
- UniSTS:146480

G63892 (e-PCR)
- UniSTS:146481

G63902 (e-PCR)
- UniSTS:146482

D8S2279 (e-PCR)
- UniSTS:473907

G63901 (e-PCR)
- UniSTS:146483

SHGC-56864 (e-PCR)
- UniSTS:64313

SHGC-108124 (e-PCR)
- UniSTS:170561

GDB:636540 (e-PCR)
- UniSTS:158547

G64965 (e-PCR)
- UniSTS:164951

G64964 (e-PCR)
- UniSTS:164952

G64963 (e-PCR)
- UniSTS:164953

G64962 (e-PCR)
- UniSTS:164954

G64977 (e-PCR)
- UniSTS:164955

RH45122 (e-PCR)
- UniSTS:69468

D15S1255 (e-PCR)
- UniSTS:69980

G64974 (e-PCR)
- UniSTS:164956

G64973 (e-PCR)
- UniSTS:164957

G64972 (e-PCR)
- UniSTS:164958

G64970 (e-PCR)
- UniSTS:164959

G64969 (e-PCR)
- UniSTS:164960

G64971 (e-PCR)
- UniSTS:164961

GDB:438900 (e-PCR)
- UniSTS:157282

G64966 (e-PCR)
- UniSTS:164963

G64968 (e-PCR)
- UniSTS:164964

G64936 (e-PCR)
- UniSTS:164965

G64942 (e-PCR)
- UniSTS:164966

G64943 (e-PCR)
- UniSTS:164967

G64944 (e-PCR)
- UniSTS:164968

G64946 (e-PCR)
- UniSTS:164970

G64947 (e-PCR)
- UniSTS:164971

G64948 (e-PCR)
- UniSTS:164972

G64949 (e-PCR)
- UniSTS:164973

G64950 (e-PCR)
- UniSTS:164974

G64995 (e-PCR)
- UniSTS:164976

G64937 (e-PCR)
- UniSTS:164977

D15S992 (e-PCR), detects polymorphism
- UniSTS:13951

G17855 (e-PCR)
- UniSTS:20118

D15S196 (e-PCR), detects polymorphism
- UniSTS:43450

G65329 (e-PCR)
- UniSTS:166341

G65304 (e-PCR)
- UniSTS:166343

WI-18561 (e-PCR)
- UniSTS:21704

G65306 (e-PCR)
- UniSTS:166344

G60567 (e-PCR)
- UniSTS:137673

G65305 (e-PCR)
- UniSTS:166345

G65298 (e-PCR)
- UniSTS:166347

G65297 (e-PCR)
- UniSTS:166348

G65296 (e-PCR)
- UniSTS:166349

G65294 (e-PCR)
- UniSTS:166350

G65330 (e-PCR)
- UniSTS:166351

G65289 (e-PCR)
- UniSTS:166352

G65291 (e-PCR)
- UniSTS:166353

GDB:182088 (e-PCR)
- UniSTS:155346

G65290 (e-PCR)
- UniSTS:166354

G65293 (e-PCR)
- UniSTS:166355

G65302 (e-PCR)
- UniSTS:166356

G65285 (e-PCR)
- UniSTS:166358

G65281 (e-PCR)
- UniSTS:166359

G65279 (e-PCR)
- UniSTS:166360

G65277 (e-PCR)
- UniSTS:166361

G65327 (e-PCR)
- UniSTS:166362

G65326 (e-PCR)
- UniSTS:166363

GDB:190047 (e-PCR)
- UniSTS:155615

GDB:190048 (e-PCR)
- UniSTS:155616

STS-R01937 (e-PCR)
- UniSTS:74495

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix constituent conferring elasticity	IC Inferred by Curator more info	PubMed
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info
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 heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
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 activation of protein kinase A activity	IDA Inferred from Direct Assay more info	PubMed
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in camera-type eye development	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell adhesion mediated by integrin	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to insulin-like growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in embryonic eye morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoclast development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoclast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of appetite	ISS Inferred from Sequence or Structural Similarity more info
involved_in post-embryonic eye morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in protein kinase A signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in sequestering of BMP in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
involved_in sequestering of TGFbeta in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay 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
located_in microfibril	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fibrillin-1

Names: asprosin; epididymis secretory sperm binding protein; fibrillin 15; fibrillin-1 preproprotein

NCBI Reference Sequences (RefSeq)

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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_008805.2 RefSeqGene

Range

5001..242483

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_778

mRNA and Protein(s)

NM_000138.5 → NP_000129.3 fibrillin-1 isoform a preproprotein

See identical proteins and their annotated locations for NP_000129.3

Status: REVIEWED

Source sequence(s)

AC084757, AC084758, BC146854

Consensus CDS

CCDS32232.1

UniProtKB/Swiss-Prot

B2RUU0, D2JYH6, P35555, Q15972, Q75N87

UniProtKB/TrEMBL

A0A384MDM4

Related

ENSP00000325527.5, ENST00000316623.10

Conserved Domains (8) summary

smart00179
Location:1808 → 1840

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1973 → 2008

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:1930 → 1971

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:1367 → 1402

EGF_3; EGF domain

pfam00683
Location:1549 → 1590

TB; TB domain

pfam12662
Location:2465 → 2488

cEGF; Complement Clr-like EGF-like

cl00057
Location:1194 → 1235

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:2485 → 2516

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_001406716.1 → NP_001393645.1 fibrillin-1 isoform a preproprotein

Status: REVIEWED

Source sequence(s)

AC022467, AC084757, AC084758, KF459685

UniProtKB/Swiss-Prot

B2RUU0, D2JYH6, P35555, Q15972, Q75N87
NM_001406717.1 → NP_001393646.1 fibrillin-1 isoform b preproprotein

Status: REVIEWED

Source sequence(s)

AC022467, AC084757
NM_001406718.1 → NP_001393647.1 fibrillin-1 isoform c preproprotein

Status: REVIEWED

Source sequence(s)

AC022467, AC084757