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Protein

Fibulin-5

Gene

FBLN5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

  • cell-matrix adhesion Source: ProtInc
  • elastic fiber assembly Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • protein localization to cell surface Source: BHF-UCL
  • regulation of cell growth Source: Ensembl
  • regulation of removal of superoxide radicals Source: BHF-UCL
  • secretion Source: UniProtKB

Keywordsi

Biological processCell adhesion
LigandCalcium

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:FBLN5
Synonyms:DANCE
ORF Names:UNQ184/PRO210
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000140092.14
HGNCiHGNC:3602 FBLN5
MIMi604580 gene
neXtProtiNX_Q9UBX5

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

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.
See also OMIM:608895
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_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.
See also OMIM:614434
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.
See also OMIM:219100
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.
See also OMIM:608895
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

DisGeNETi10516
GeneReviewsiFBLN5
MalaCardsiFBLN5
MIMi219100 phenotype
608895 phenotype
614434 phenotype
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

Polymorphism and mutation databases

BioMutaiFBLN5
DMDMi12643876

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000000757724 – 448Fibulin-5Add BLAST425

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UBX5
PeptideAtlasiQ9UBX5
PRIDEiQ9UBX5
ProteomicsDBi84093

2D gel databases

REPRODUCTION-2DPAGEiIPI00294615

PTM databases

GlyConnecti1245
iPTMnetiQ9UBX5
PhosphoSitePlusiQ9UBX5

Expressioni

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

BgeeiENSG00000140092 Expressed in 199 organ(s), highest expression level in thoracic aorta
CleanExiHS_FBLN5
ExpressionAtlasiQ9UBX5 baseline and differential
GenevisibleiQ9UBX5 HS

Organism-specific databases

HPAiCAB025843
HPA000848
HPA000868

Interactioni

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115771, 16 interactors
DIPiDIP-44301N
IntActiQ9UBX5, 22 interactors
MINTiQ9UBX5
STRINGi9606.ENSP00000345008

Structurei

3D structure databases

ProteinModelPortaliQ9UBX5
SMRiQ9UBX5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Motifi54 – 56Cell attachment siteSequence analysis3

Sequence similaritiesi

Belongs to the fibulin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR76 Eukaryota
ENOG41104WD LUCA
GeneTreeiENSGT00760000118806
HOGENOMiHOG000234337
HOVERGENiHBG051560
InParanoidiQ9UBX5
KOiK17340
PhylomeDBiQ9UBX5
TreeFamiTF317514

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
IPR037287 Fibulin_3/4/5
IPR009030 Growth_fac_rcpt_cys_sf
PANTHERiPTHR44074 PTHR44074, 1 hit
PTHR44074:SF4 PTHR44074:SF4, 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

Sequence (1+)i

Sequence statusi: Complete.

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
Checksum:i19FCA51FDA328003
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3XA98G3XA98_HUMAN
Fibulin 5, isoform CRA_a
FBLN5 hCG_21251
489Annotation score:
G3V4U0G3V4U0_HUMAN
Fibulin-5
FBLN5
453Annotation score:
G3V3Y2G3V3Y2_HUMAN
Fibulin-5
FBLN5
91Annotation score:
G3V329G3V329_HUMAN
Fibulin-5
FBLN5
44Annotation score:
G3V2P8G3V2P8_HUMAN
Fibulin-5
FBLN5
35Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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
UniGeneiHs.332708

Genome annotation databases

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

Similar proteinsi

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
UniGeneiHs.332708

3D structure databases

ProteinModelPortaliQ9UBX5
SMRiQ9UBX5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115771, 16 interactors
DIPiDIP-44301N
IntActiQ9UBX5, 22 interactors
MINTiQ9UBX5
STRINGi9606.ENSP00000345008

PTM databases

GlyConnecti1245
iPTMnetiQ9UBX5
PhosphoSitePlusiQ9UBX5

Polymorphism and mutation databases

BioMutaiFBLN5
DMDMi12643876

2D gel databases

REPRODUCTION-2DPAGEiIPI00294615

Proteomic databases

PaxDbiQ9UBX5
PeptideAtlasiQ9UBX5
PRIDEiQ9UBX5
ProteomicsDBi84093

Protocols and materials databases

DNASUi10516
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10516
DisGeNETi10516
EuPathDBiHostDB:ENSG00000140092.14
GeneCardsiFBLN5
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR76 Eukaryota
ENOG41104WD LUCA
GeneTreeiENSGT00760000118806
HOGENOMiHOG000234337
HOVERGENiHBG051560
InParanoidiQ9UBX5
KOiK17340
PhylomeDBiQ9UBX5
TreeFamiTF317514

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiFBLN5
GenomeRNAii10516
PROiPR:Q9UBX5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140092 Expressed in 199 organ(s), highest expression level in thoracic aorta
CleanExiHS_FBLN5
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
IPR037287 Fibulin_3/4/5
IPR009030 Growth_fac_rcpt_cys_sf
PANTHERiPTHR44074 PTHR44074, 1 hit
PTHR44074:SF4 PTHR44074:SF4, 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
ProtoNetiSearch...

Entry informationi

Entry nameiFBLN5_HUMAN
AccessioniPrimary (citable) accession number: Q9UBX5
Secondary accession number(s): O75966, Q6IAL4, Q6UWA3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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