Fbln5 fibulin 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fbln5provided by MGI
Official Full Name: fibulin 5provided by MGI
Primary source: MGI:MGI:1346091
See related: Ensembl:ENSMUSG00000021186 AllianceGenome:MGI:1346091
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: A55; EVEC; DANCE
Summary: Enables integrin binding activity. Involved in several processes, including elastic fiber assembly; intramembranous bone growth; and regulation of transcription by RNA polymerase II. Acts upstream of or within extracellular matrix organization. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix and elastic fiber. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and skeleton. Used to study cutis laxa. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa. Orthologous to human FBLN5 (fibulin 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 44.5), bladder adult (RPKM 22.1) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 51.29 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (101712820..101785541, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (101746565..101819119, complement)

Chromosome 12 - NC_000078.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Compromised Cardiopulmonary Function in Fibulin-5 Deficient Mice.
Title: Compromised Cardiopulmonary Function in Fibulin-5 Deficient Mice.
Role of fibulin-5 insufficiency and prolapse progression on murine vaginal biomechanical function.
Title: Role of fibulin-5 insufficiency and prolapse progression on murine vaginal biomechanical function.
PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.
Title: PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.
Upregulation of PTK7 and beta-catenin after vaginal mechanical dilatation: an examination of fibulin-5 knockout mice.
Title: Upregulation of PTK7 and β-catenin after vaginal mechanical dilatation: an examination of fibulin-5 knockout mice.
Dysregulated assembly of elastic fibers in fibulin-5 knockout mice results in a tendon-specific increase in elastic modulus.
Title: Dysregulated assembly of elastic fibers in fibulin-5 knockout mice results in a tendon-specific increase in elastic modulus.
Fibulin 5 localized to the RPE, choroid, and Bruch's membrane. Knockout mice had a significantly reduced scotopic A response by 1 month of age, when compared to their wild-type counterparts, which remained throughout life and only declined as a result of normal aging. The functional decline was associated with reduced number of photoreceptor cells.
Title: Role of Fibulins 2 and 5 in Retinal Development and Maintenance.
Fibulin-5 overexpression promoted the proliferation and migration of airway smooth muscle cell.
Title: Fibulin-5 promotes airway smooth muscle cell proliferation and migration via modulating Hippo-YAP/TAZ pathway.
Fibulin-5 overexpression significantly down-regulated the phosphorylation level of eIF2alpha and subsequently inhibited the TRPV1 channel and CREB/CGRP signaling
Title: Overexpression of Fibulin-5 attenuates burn-induced inflammation via TRPV1/CGRP pathway.
therapy-induced hypoxia elevated Fbln5 expression, whereas pharmacologic inhibition of TGF-beta signaling reduced Fbln5 expression. These findings offer insight into the signaling axis that induces Fbln5 expression in PDA and a potential strategy to block its production
Title: Hypoxia and Transforming Growth Factor β Cooperate to Induce Fibulin-5 Expression in Pancreatic Cancer.
Identify a SOX9/HDAC-dependent mechanism involved in the down-regulation of FBLN5 by inflammation in abdominal aortic aneurysms.
Title: Down-regulation of Fibulin-5 is associated with aortic dilation: role of inflammation and epigenetics.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (3) 1 citation

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

Gene Ontology Provided by MGI

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	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
involved_in elastic fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
involved_in intramembranous bone growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of removal of superoxide radicals	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in secretion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
colocalizes_with elastic fiber	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 extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: fibulin-5

Names: FIBL-5; developmental arteries and neural crest EGF-like 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.

mRNA and Protein(s)

NM_001361987.2 → NP_001348916.1 fibulin-5 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC122473

Consensus CDS

CCDS88391.1

UniProtKB/TrEMBL

A0A1Y7VJW9

Related

ENSMUSP00000152680.2, ENSMUST00000222587.2

Conserved Domains (4) summary

smart00179
Location:220 → 258

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:200 → 223

cEGF; Complement Clr-like EGF-like

pfam14670
Location:271 → 299

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:134 → 178

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_001413776.1 → NP_001400705.1 fibulin-5 isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413777.1 → NP_001400706.1 fibulin-5 isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413778.1 → NP_001400707.1 fibulin-5 isoform 5 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413779.1 → NP_001400708.1 fibulin-5 isoform 6 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413780.1 → NP_001400709.1 fibulin-5 isoform 7 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413781.1 → NP_001400710.1 fibulin-5 isoform 8 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413782.1 → NP_001400711.1 fibulin-5 isoform 9 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413783.1 → NP_001400712.1 fibulin-5 isoform 10 precursor

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413784.1 → NP_001400713.1 fibulin-5 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC122473

UniProtKB/TrEMBL

A0A1Y7VJW9
NM_001413785.1 → NP_001400714.1 fibulin-5 isoform 12

Status: VALIDATED

Source sequence(s)

AC122473
NM_001413786.1 → NP_001400715.1 fibulin-5 isoform 12

Status: VALIDATED

Source sequence(s)

AC122473
NM_011812.5 → NP_035942.1 fibulin-5 isoform 2 precursor

See identical proteins and their annotated locations for NP_035942.1

Status: VALIDATED

Source sequence(s)

AC122473

Consensus CDS

CCDS36525.1

UniProtKB/Swiss-Prot

Q541Z7, Q9WVH9

Related

ENSMUSP00000021603.9, ENSMUST00000021603.9

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 ...

RNA

NR_182218.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC122473

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

101712820..101785541 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006515866.3 → XP_006515929.1 fibulin-5 isoform X2

Conserved Domains (5) summary

smart00179
Location:206 → 244

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:126 → 159

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:186 → 209

cEGF; Complement Clr-like EGF-like

pfam14670
Location:257 → 285

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:160 → 203

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 ...