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Entry version 183 (05 Jun 2019)
Sequence version 1 (01 May 2000)
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Protein

Fibulin-5

Gene

FBLN5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9UBX5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fibulin-5
Short name:
FIBL-5
Alternative name(s):
Developmental arteries and neural crest EGF-like protein
Short name:
Dance
Urine p50 protein
Short name:
UP50
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FBLN5
Synonyms:DANCE
ORF Names:UNQ184/PRO210
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3602 FBLN5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604580 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UBX5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neuropathy of the Charcot-Marie-Tooth disease group, characterized by distal muscle weakness and atrophy variably affecting the lower and upper limbs. Distal sensory impairment and decreased nerve conduction velocities are present in most but not all patients. Additional variable features are age-related macular degeneration, joint hypermobility, and hyperelastic skin.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07628948T → I in HNARMD. 1 PublicationCorresponds to variant dbSNP:rs141200859Ensembl.1
Natural variantiVAR_07629090G → S in HNARMD. 1 PublicationCorresponds to variant dbSNP:rs144288844EnsemblClinVar.1
Natural variantiVAR_072393267G → S in ARMD3, ARCL1A and HNARMD; produces protein misolding; decreases secretion; no effect on homodimerization. 4 PublicationsCorresponds to variant dbSNP:rs149396611EnsemblClinVar.1
Natural variantiVAR_076291373R → C in HNARMD. 2 PublicationsCorresponds to variant dbSNP:rs864309526EnsemblClinVar.1
Cutis laxa, autosomal dominant, 2 (ADCL2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.
Related information in OMIM
Cutis laxa, autosomal recessive, 1A (ARCL1A)7 Publications
The disease is caused by mutations affecting the gene represented in this entry. Mutations affecting this gene can modify the phenotype of diseases caused by ELN mutations.1 Publication
Disease descriptionA connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072392217C → R in ARCL1A; formation of extracellular globular aggregates; decreases cell growth; reduces interaction with ELN; abolishes secretion; increases homodimerization. 4 PublicationsCorresponds to variant dbSNP:rs80338766EnsemblClinVar.1
Natural variantiVAR_017153227S → P in ARCL1A; decreases expression; produces protein misfolding; abolishes secretion; reduces interaction with ELN; increases homodimerization; impairs elastic fiber development. 6 PublicationsCorresponds to variant dbSNP:rs28939370EnsemblClinVar.1
Macular degeneration, age-related, 3 (ARMD3)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01981460V → L in ARMD3; no effect on secretion; no effect on homodimerization. 3 PublicationsCorresponds to variant dbSNP:rs121434299EnsemblClinVar.1
Natural variantiVAR_01981571R → Q in ARMD3; no effect on secretion; no effect on homodimerization. 3 PublicationsCorresponds to variant dbSNP:rs121434300EnsemblClinVar.1
Natural variantiVAR_01981687P → S in ARMD3; no effect on secretion; slightly increases homodimerization in absence of Ca(2+). 3 PublicationsCorresponds to variant dbSNP:rs121434301EnsemblClinVar.1
Natural variantiVAR_072389124Q → P in ARMD3; almost abolishes secretion; no effect on homodimerization. 2 Publications1
Natural variantiVAR_019817169I → T in ARMD3; decreases secretion; slightly increases homodimerization in absence of Ca(2+); no effect on protein folding. 4 PublicationsCorresponds to variant dbSNP:rs28939072EnsemblClinVar.1
Natural variantiVAR_072393267G → S in ARMD3, ARCL1A and HNARMD; produces protein misolding; decreases secretion; no effect on homodimerization. 4 PublicationsCorresponds to variant dbSNP:rs149396611EnsemblClinVar.1
Natural variantiVAR_019818351R → W in ARMD3; no effect on secretion; slightly increases homodimerization in absence of Ca(2+). 3 PublicationsCorresponds to variant dbSNP:rs28939073EnsemblClinVar.1
Natural variantiVAR_019819363A → T in ARMD3; no effect on secretion. 2 PublicationsCorresponds to variant dbSNP:rs121434302EnsemblClinVar.1
Natural variantiVAR_019820412G → E in ARMD3; decreases secretion; slightly increases homodimerization in absence of Ca(2+). 3 PublicationsCorresponds to variant dbSNP:rs121434303EnsemblClinVar.1

Keywords - Diseasei

Age-related macular degeneration, Charcot-Marie-Tooth disease, Disease mutation, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
10516

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
FBLN5

MalaCards human disease database

More...
MalaCardsi
FBLN5
MIMi219100 phenotype
608895 phenotype
614434 phenotype

Open Targets

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OpenTargetsi
ENSG00000140092

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
90348 Autosomal dominant cutis laxa
90349 Autosomal recessive cutis laxa type 1
280598 Hereditary sensorimotor neuropathy with hyperelastic skin
279 NON RARE IN EUROPE: Age-related macular degeneration

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28015

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FBLN5

Domain mapping of disease mutations (DMDM)

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DMDMi
12643876

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000757724 – 448Fibulin-5Add BLAST425

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi46 ↔ 59PROSITE-ProRule annotation
Disulfide bondi53 ↔ 68PROSITE-ProRule annotation
Disulfide bondi131 ↔ 144PROSITE-ProRule annotation
Disulfide bondi138 ↔ 153PROSITE-ProRule annotation
Disulfide bondi155 ↔ 166PROSITE-ProRule annotation
Disulfide bondi172 ↔ 181PROSITE-ProRule annotation
Disulfide bondi177 ↔ 190PROSITE-ProRule annotation
Disulfide bondi192 ↔ 205PROSITE-ProRule annotation
Disulfide bondi211 ↔ 221PROSITE-ProRule annotation
Disulfide bondi217 ↔ 230PROSITE-ProRule annotation
Disulfide bondi232 ↔ 245PROSITE-ProRule annotation
Disulfide bondi251 ↔ 262PROSITE-ProRule annotation
Disulfide bondi258 ↔ 271PROSITE-ProRule annotation
Disulfide bondi273 ↔ 286PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi283N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi292 ↔ 305PROSITE-ProRule annotation
Glycosylationi296N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi299 ↔ 314PROSITE-ProRule annotation
Disulfide bondi320 ↔ 332PROSITE-ProRule annotation

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UBX5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9UBX5

PeptideAtlas

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PeptideAtlasi
Q9UBX5

PRoteomics IDEntifications database

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PRIDEi
Q9UBX5

ProteomicsDB human proteome resource

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ProteomicsDBi
84093

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00294615

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1245

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UBX5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9UBX5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in skin fibroblasts (at protein level)(PubMed:17035250). Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes (PubMed:10428823).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000140092 Expressed in 199 organ(s), highest expression level in thoracic aorta

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UBX5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UBX5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB025843
HPA000848
HPA000868

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:20007835). Monomer (PubMed:15790312, PubMed:19617354), homodimerizes in presence of Ca2+ (PubMed:19617354). Interacts with ELN (PubMed:17035250, PubMed:15790312). Interacts (via N-terminus) with the integrins ITGAV/ITGB3, ITGAV/ITGB5 and ITGA9/ITGB1 (By similarity). Interacts with FBN1 (via N-terminal domain). Forms a ternary complex with ELN and FBN1 (PubMed:17255108).By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115771, 19 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UBX5

Database of interacting proteins

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DIPi
DIP-44301N

Protein interaction database and analysis system

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IntActi
Q9UBX5, 26 interactors

Molecular INTeraction database

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MINTi
Q9UBX5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000345008

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UBX5

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini42 – 82EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini127 – 167EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini168 – 206EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini207 – 246EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini247 – 287EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini288 – 333EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST46

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi54 – 56Cell attachment siteSequence analysis3

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the fibulin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IR76 Eukaryota
ENOG41104WD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158774

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234337

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UBX5

KEGG Orthology (KO)

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KOi
K17340

Database of Orthologous Groups

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OrthoDBi
1174178at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UBX5

TreeFam database of animal gene trees

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TreeFami
TF317514

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR037288 Fibulin-5
IPR009030 Growth_fac_rcpt_cys_sf

The PANTHER Classification System

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PANTHERi
PTHR24034:SF107 PTHR24034:SF107, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12662 cEGF, 3 hits
PF07645 EGF_CA, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57184 SSF57184, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q9UBX5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPGIKRILTV TILALCLPSP GNAQAQCTNG FDLDRQSGQC LDIDECRTIP
60 70 80 90 100
EACRGDMMCV NQNGGYLCIP RTNPVYRGPY SNPYSTPYSG PYPAAAPPLS
110 120 130 140 150
APNYPTISRP LICRFGYQMD ESNQCVDVDE CATDSHQCNP TQICINTEGG
160 170 180 190 200
YTCSCTDGYW LLEGQCLDID ECRYGYCQQL CANVPGSYSC TCNPGFTLNE
210 220 230 240 250
DGRSCQDVNE CATENPCVQT CVNTYGSFIC RCDPGYELEE DGVHCSDMDE
260 270 280 290 300
CSFSEFLCQH ECVNQPGTYF CSCPPGYILL DDNRSCQDIN ECEHRNHTCN
310 320 330 340 350
LQQTCYNLQG GFKCIDPIRC EEPYLRISDN RCMCPAENPG CRDQPFTILY
360 370 380 390 400
RDMDVVSGRS VPADIFQMQA TTRYPGAYYI FQIKSGNEGR EFYMRQTGPI
410 420 430 440
SATLVMTRPI KGPREIQLDL EMITVNTVIN FRGSSVIRLR IYVSQYPF
Length:448
Mass (Da):50,180
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i19FCA51FDA328003
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V4U0G3V4U0_HUMAN
Fibulin-5
FBLN5
453Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3XA98G3XA98_HUMAN
Fibulin 5, isoform CRA_a
FBLN5 hCG_21251
489Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3Y2G3V3Y2_HUMAN
Fibulin-5
FBLN5
91Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V329G3V329_HUMAN
Fibulin-5
FBLN5
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2P8G3V2P8_HUMAN
Fibulin-5
FBLN5
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti69 – 70IP → HS in AAC62107 (Ref. 3) Curated2
Sequence conflicti147 – 148TE → MK in AAC62107 (Ref. 3) Curated2
Sequence conflicti228F → L in AAQ89257 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07628948T → I in HNARMD. 1 PublicationCorresponds to variant dbSNP:rs141200859Ensembl.1
Natural variantiVAR_01981460V → L in ARMD3; no effect on secretion; no effect on homodimerization. 3 PublicationsCorresponds to variant dbSNP:rs121434299EnsemblClinVar.1
Natural variantiVAR_01981571R → Q in ARMD3; no effect on secretion; no effect on homodimerization. 3 PublicationsCorresponds to variant dbSNP:rs121434300EnsemblClinVar.1
Natural variantiVAR_01981687P → S in ARMD3; no effect on secretion; slightly increases homodimerization in absence of Ca(2+). 3 PublicationsCorresponds to variant dbSNP:rs121434301EnsemblClinVar.1
Natural variantiVAR_07629090G → S in HNARMD. 1 PublicationCorresponds to variant dbSNP:rs144288844EnsemblClinVar.1
Natural variantiVAR_072389124Q → P in ARMD3; almost abolishes secretion; no effect on homodimerization. 2 Publications1
Natural variantiVAR_072390126V → M Polymorphism; no effect on secretion; slightly increases homodimerization in absence of Ca(2+). 3 PublicationsCorresponds to variant dbSNP:rs61734479EnsemblClinVar.1
Natural variantiVAR_019817169I → T in ARMD3; decreases secretion; slightly increases homodimerization in absence of Ca(2+); no effect on protein folding. 4 PublicationsCorresponds to variant dbSNP:rs28939072EnsemblClinVar.1
Natural variantiVAR_072391202G → R Polymorphism; slightly increases homodimerization in absence of Ca(2+); no effect on protein folding; no effect on secretion. 3 PublicationsCorresponds to variant dbSNP:rs80338765EnsemblClinVar.1
Natural variantiVAR_072392217C → R in ARCL1A; formation of extracellular globular aggregates; decreases cell growth; reduces interaction with ELN; abolishes secretion; increases homodimerization. 4 PublicationsCorresponds to variant dbSNP:rs80338766EnsemblClinVar.1
Natural variantiVAR_017153227S → P in ARCL1A; decreases expression; produces protein misfolding; abolishes secretion; reduces interaction with ELN; increases homodimerization; impairs elastic fiber development. 6 PublicationsCorresponds to variant dbSNP:rs28939370EnsemblClinVar.1
Natural variantiVAR_072393267G → S in ARMD3, ARCL1A and HNARMD; produces protein misolding; decreases secretion; no effect on homodimerization. 4 PublicationsCorresponds to variant dbSNP:rs149396611EnsemblClinVar.1
Natural variantiVAR_072394301L → M Found in a patient with autosomal recessive cutis laxa also carrying a mutation in ELN; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377360782Ensembl.1
Natural variantiVAR_019818351R → W in ARMD3; no effect on secretion; slightly increases homodimerization in absence of Ca(2+). 3 PublicationsCorresponds to variant dbSNP:rs28939073EnsemblClinVar.1
Natural variantiVAR_019819363A → T in ARMD3; no effect on secretion. 2 PublicationsCorresponds to variant dbSNP:rs121434302EnsemblClinVar.1
Natural variantiVAR_026986364D → Y. Corresponds to variant dbSNP:rs1802492EnsemblClinVar.1
Natural variantiVAR_076291373R → C in HNARMD. 2 PublicationsCorresponds to variant dbSNP:rs864309526EnsemblClinVar.1
Natural variantiVAR_019820412G → E in ARMD3; decreases secretion; slightly increases homodimerization in absence of Ca(2+). 3 PublicationsCorresponds to variant dbSNP:rs121434303EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ133490 mRNA Translation: CAB38568.1
AF112152 mRNA Translation: AAD41768.1
AF093118 mRNA Translation: AAC62107.1
AY358898 mRNA Translation: AAQ89257.1
CR457140 mRNA Translation: CAG33421.1
AK075147 mRNA Translation: BAG52073.1
CH471061 Genomic DNA Translation: EAW81466.1
BC022280 mRNA Translation: AAH22280.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9898.1

NCBI Reference Sequences

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RefSeqi
NP_006320.2, NM_006329.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000342058; ENSP00000345008; ENSG00000140092

Database of genes from NCBI RefSeq genomes

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GeneIDi
10516

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10516

UCSC genome browser

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UCSCi
uc001xzx.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ133490 mRNA Translation: CAB38568.1
AF112152 mRNA Translation: AAD41768.1
AF093118 mRNA Translation: AAC62107.1
AY358898 mRNA Translation: AAQ89257.1
CR457140 mRNA Translation: CAG33421.1
AK075147 mRNA Translation: BAG52073.1
CH471061 Genomic DNA Translation: EAW81466.1
BC022280 mRNA Translation: AAH22280.1
CCDSiCCDS9898.1
RefSeqiNP_006320.2, NM_006329.3

3D structure databases

SMRiQ9UBX5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115771, 19 interactors
CORUMiQ9UBX5
DIPiDIP-44301N
IntActiQ9UBX5, 26 interactors
MINTiQ9UBX5
STRINGi9606.ENSP00000345008

PTM databases

GlyConnecti1245
iPTMnetiQ9UBX5
PhosphoSitePlusiQ9UBX5

Polymorphism and mutation databases

BioMutaiFBLN5
DMDMi12643876

2D gel databases

REPRODUCTION-2DPAGEiIPI00294615

Proteomic databases

jPOSTiQ9UBX5
PaxDbiQ9UBX5
PeptideAtlasiQ9UBX5
PRIDEiQ9UBX5
ProteomicsDBi84093

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10516
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342058; ENSP00000345008; ENSG00000140092
GeneIDi10516
KEGGihsa:10516
UCSCiuc001xzx.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10516
DisGeNETi10516

GeneCards: human genes, protein and diseases

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GeneCardsi
FBLN5
GeneReviewsiFBLN5
HGNCiHGNC:3602 FBLN5
HPAiCAB025843
HPA000848
HPA000868
MalaCardsiFBLN5
MIMi219100 phenotype
604580 gene
608895 phenotype
614434 phenotype
neXtProtiNX_Q9UBX5
OpenTargetsiENSG00000140092
Orphaneti90348 Autosomal dominant cutis laxa
90349 Autosomal recessive cutis laxa type 1
280598 Hereditary sensorimotor neuropathy with hyperelastic skin
279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA28015

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR76 Eukaryota
ENOG41104WD LUCA
GeneTreeiENSGT00940000158774
HOGENOMiHOG000234337
InParanoidiQ9UBX5
KOiK17340
OrthoDBi1174178at2759
PhylomeDBiQ9UBX5
TreeFamiTF317514

Enzyme and pathway databases

ReactomeiR-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres
SIGNORiQ9UBX5

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
FBLN5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10516

Protein Ontology

More...
PROi
PR:Q9UBX5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000140092 Expressed in 199 organ(s), highest expression level in thoracic aorta
ExpressionAtlasiQ9UBX5 baseline and differential
GenevisibleiQ9UBX5 HS

Family and domain databases

InterProiView protein in InterPro
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR037288 Fibulin-5
IPR009030 Growth_fac_rcpt_cys_sf
PANTHERiPTHR24034:SF107 PTHR24034:SF107, 1 hit
PfamiView protein in Pfam
PF12662 cEGF, 3 hits
PF07645 EGF_CA, 2 hits
SMARTiView protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 6 hits
SUPFAMiSSF57184 SSF57184, 2 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFBLN5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UBX5
Secondary accession number(s): O75966, Q6IAL4, Q6UWA3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: June 5, 2019
This is version 183 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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