FBLN5 fibulin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBLN5provided by HGNC
Official Full Name: fibulin 5provided by HGNC
Primary source: HGNC:HGNC:3602
See related: Ensembl:ENSG00000140092 MIM:604580; AllianceGenome:HGNC:3602
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: EVEC; UP50; ADCL2; ARMD3; CMT1H; DANCE; ARCL1A; FIBL-5; HNARMD
Summary: The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
Expression: Broad expression in gall bladder (RPKM 67.7), spleen (RPKM 57.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (91869411..91947694, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (86098901..86177154, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (92335755..92414038, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

FBLN5 was Regulated by PRDM9, and Promoted Senescence and Osteogenic Differentiation of Human Periodontal Ligament Stem Cells.
Title: FBLN5 was Regulated by PRDM9, and Promoted Senescence and Osteogenic Differentiation of Human Periodontal Ligament Stem Cells.
Genetic screening for anticancer genes highlights FBLN5 as a synthetic lethal partner of MYC.
Title: Genetic screening for anticancer genes highlights FBLN5 as a synthetic lethal partner of MYC.
Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome.
Title: Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome.
Decreased Expression of EC-SOD and Fibulin-5 in Alveolar Walls of Lungs From COPD Patients.
Title: Decreased Expression of EC-SOD and Fibulin-5 in Alveolar Walls of Lungs From COPD Patients.
Knockdown of ubiquitin-conjugating enzyme E2T (UBE2T) suppresses lung adenocarcinoma progression via targeting fibulin-5 (FBLN5).
Title: Knockdown of ubiquitin-conjugating enzyme E2T (UBE2T) suppresses lung adenocarcinoma progression via targeting fibulin-5 (FBLN5).
MiR-552-3p facilitated cell proliferation, migration and invasion by sponging Fibulin 5 in non-small cell lung cancer via activation of ERK/GSK3beta/beta-catenin signaling pathway.
Title: MiR-552-3p facilitated cell proliferation, migration and invasion by sponging Fibulin 5 in non-small cell lung cancer via activation of ERK/GSK3β/β-catenin signaling pathway.
PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.
Title: PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Title: Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
FBLN5 is targeted by microRNA27a3p and suppresses tumorigenesis and progression in highgrade serous ovarian carcinoma.
Title: FBLN5 is targeted by microRNA‑27a‑3p and suppresses tumorigenesis and progression in high‑grade serous ovarian carcinoma.
Fibulin-5 protects the extracellular matrix of chondrocytes by inhibiting the Wnt/beta-catenin signaling pathway and relieves osteoarthritis.
Title: Fibulin-5 protects the extracellular matrix of chondrocytes by inhibiting the Wnt/β-catenin signaling pathway and relieves osteoarthritis.

Submit: New GeneRIF Correction See all GeneRIFs (90)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease, demyelinating, IIA 1H MedGen: C5676926 OMIM: 619764 GeneReviews: Not available	Compare labs
Cutis laxa, autosomal dominant 2 MedGen: C3280794 OMIM: 614434 GeneReviews: FBLN5-Related Cutis Laxa	Compare labs
Cutis laxa, autosomal recessive, type 1A MedGen: C5848058 OMIM: 219100 GeneReviews: FBLN5-Related Cutis Laxa	Compare labs
Macular degeneration, age-related, 3 MedGen: C1837187 OMIM: 608895 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 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

MARC_6365-6366:996689692:1 (e-PCR)
- UniSTS:269649

D14S1304 (e-PCR)
- UniSTS:33180

SHGC-107516 (e-PCR)
- UniSTS:170423

FBLN5_9125 (e-PCR)
- UniSTS:468412

RH120630 (e-PCR)
- UniSTS:132571

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables integrin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-matrix adhesion	TAS Traceable Author Statement more info	PubMed
involved_in elastic fiber assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in elastic fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in elastic fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of removal of superoxide radicals	ISS Inferred from Sequence or Structural Similarity more info
involved_in secretion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with elastic fiber	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed

General protein information

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Preferred Names: fibulin-5

Names: developmental arteries and neural crest EGF-like protein; embryonic vascular EGF-like repeat-containing protein; testis tissue sperm-binding protein Li 75n; urine p50 protein

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_008254.1 RefSeqGene

Range

5001..83292

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_364

mRNA and Protein(s)

NM_001384158.1 → NP_001371087.1 fibulin-5 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL049872, AL590328

Consensus CDS

CCDS91919.1

UniProtKB/TrEMBL

A0A9L9PY85, G3XA98

Related

ENSP00000267620.10, ENST00000267620.14

Conserved Domains (5) summary

smart00179
Location:248 → 286

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:168 → 201

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:228 → 251

cEGF; Complement Clr-like EGF-like

pfam14670
Location:299 → 327

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:202 → 245

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 ...
NM_001384159.1 → NP_001371088.1 fibulin-5 isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AL049872, AL590328

UniProtKB/TrEMBL

A0A9L9PY85, G3V4U0

Related

ENSP00000451982.2, ENST00000556154.5

Conserved Domains (5) summary

smart00179
Location:224 → 262

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:144 → 177

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:204 → 227

cEGF; Complement Clr-like EGF-like

pfam14670
Location:275 → 303

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:178 → 221

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 ...
NM_001384160.1 → NP_001371089.1 fibulin-5 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL049872, AL590328

UniProtKB/TrEMBL

A0A9L9PXD9

Related

ENSP00000516493.1, ENST00000706677.1

Conserved Domains (5) summary

smart00179
Location:207 → 245

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:127 → 160

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:187 → 210

cEGF; Complement Clr-like EGF-like

pfam14670
Location:258 → 286

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:161 → 204

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 ...
NM_001384161.1 → NP_001371090.1 fibulin-5 isoform 5

Status: REVIEWED

Source sequence(s)

AL049872, AL590328

Conserved Domains (4) summary

smart00179
Location:151 → 189

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:131 → 154

cEGF; Complement Clr-like EGF-like

pfam14670
Location:202 → 230

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:69 → 109

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 ...
NM_001384162.1 → NP_001371091.1 fibulin-5 isoform 6

Status: REVIEWED

Source sequence(s)

AL049872, AL590328

UniProtKB/TrEMBL

G3V2P8

Related

ENSP00000450787.2, ENST00000557570.2

Conserved Domains (5) summary

smart00179
Location:151 → 189

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:71 → 104

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:131 → 154

cEGF; Complement Clr-like EGF-like

pfam14670
Location:202 → 230

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:105 → 148

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 ...
NM_006329.4 → NP_006320.2 fibulin-5 isoform 1 precursor

See identical proteins and their annotated locations for NP_006320.2

Status: REVIEWED

Source sequence(s)

AL049872, AL590328

Consensus CDS

CCDS9898.1

UniProtKB/Swiss-Prot

O75966, Q6IAL4, Q6UWA3, Q9UBX5

UniProtKB/TrEMBL

A0A024R6G3, A0A9L9PY85

Related

ENSP00000345008.4, ENST00000342058.9

Conserved Domains (5) summary

smart00179
Location:207 → 245

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:127 → 160

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:187 → 210

cEGF; Complement Clr-like EGF-like

pfam14670
Location:258 → 286

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:161 → 204

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

91869411..91947694 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536356.2 → XP_011534658.1 fibulin-5 isoform X1

UniProtKB/TrEMBL

A0A9L9PY85

Conserved Domains (3) summary

smart00179
Location:224 → 262

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:204 → 227

cEGF; Complement Clr-like EGF-like

cl00057
Location:262 → 302

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 ...