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Q9UBX5

- FBLN5_HUMAN

UniProt

Q9UBX5 - FBLN5_HUMAN

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Protein
Fibulin-5
Gene
FBLN5, DANCE, UNQ184/PRO210
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be a vascular ligand for integrin receptors and may play a role in vascular development and remodeling.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. integrin binding Source: ProtInc
  3. protein C-terminus binding Source: BHF-UCL
  4. protein binding Source: IntAct

GO - Biological processi

  1. cell-matrix adhesion Source: ProtInc
  2. elastic fiber assembly Source: BHF-UCL
  3. extracellular matrix organization Source: Reactome
  4. protein localization to cell surface Source: BHF-UCL
  5. regulation of cell growth Source: Ensembl
  6. regulation of removal of superoxide radicals Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_150331. Molecules associated with elastic fibres.
REACT_150366. Elastic fibre formation.

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
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:3602. FBLN5.

Subcellular locationi

GO - Cellular componenti

  1. elastic fiber Source: Ensembl
  2. extracellular region Source: Reactome
  3. extracellular space Source: BHF-UCL
  4. extracellular vesicular exosome Source: UniProt
  5. proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Cutis laxa, autosomal dominant, 2 (ADCL2) [MIM:614434]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti227 – 2271S → P in ARCL1A. 2 Publications
Corresponds to variant rs28939370 [ dbSNP | Ensembl ].
VAR_017153
Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → L in ARMD3. 1 Publication
Corresponds to variant rs28939371 [ dbSNP | Ensembl ].
VAR_019814
Natural varianti71 – 711R → Q in ARMD3. 1 Publication
Corresponds to variant rs28939372 [ dbSNP | Ensembl ].
VAR_019815
Natural varianti87 – 871P → S in ARMD3. 1 Publication
Corresponds to variant rs28939373 [ dbSNP | Ensembl ].
VAR_019816
Natural varianti169 – 1691I → T in ARMD3. 1 Publication
Corresponds to variant rs28939072 [ dbSNP | Ensembl ].
VAR_019817
Natural varianti351 – 3511R → W in ARMD3. 1 Publication
Corresponds to variant rs28939073 [ dbSNP | Ensembl ].
VAR_019818
Natural varianti363 – 3631A → T in ARMD3. 1 Publication
VAR_019819
Natural varianti412 – 4121G → E in ARMD3. 1 Publication
VAR_019820

Keywords - Diseasei

Age-related macular degeneration, Disease mutation

Organism-specific databases

MIMi219100. phenotype.
608895. phenotype.
614434. phenotype.
Orphaneti279. Age-related macular degeneration.
90348. Autosomal dominant cutis laxa.
90349. Autosomal recessive cutis laxa type 1.
280598. Hereditary sensorimotor neuropathy with hyperelastic skin.
PharmGKBiPA28015.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed prediction
Add
BLAST
Chaini24 – 448425Fibulin-5
PRO_0000007577Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi46 ↔ 59 By similarity
Disulfide bondi53 ↔ 68 By similarity
Disulfide bondi131 ↔ 144 By similarity
Disulfide bondi138 ↔ 153 By similarity
Disulfide bondi155 ↔ 166 By similarity
Disulfide bondi172 ↔ 181 By similarity
Disulfide bondi177 ↔ 190 By similarity
Disulfide bondi192 ↔ 205 By similarity
Disulfide bondi211 ↔ 221 By similarity
Disulfide bondi217 ↔ 230 By similarity
Disulfide bondi232 ↔ 245 By similarity
Disulfide bondi251 ↔ 262 By similarity
Disulfide bondi258 ↔ 271 By similarity
Disulfide bondi273 ↔ 286 By similarity
Glycosylationi283 – 2831N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi292 ↔ 305 By similarity
Glycosylationi296 – 2961N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi299 ↔ 314 By similarity
Disulfide bondi320 ↔ 332 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UBX5.
PeptideAtlasiQ9UBX5.
PRIDEiQ9UBX5.

2D gel databases

REPRODUCTION-2DPAGEIPI00294615.

Expressioni

Tissue specificityi

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.

Gene expression databases

ArrayExpressiQ9UBX5.
BgeeiQ9UBX5.
CleanExiHS_FBLN5.
GenevestigatoriQ9UBX5.

Organism-specific databases

HPAiCAB025843.
HPA000848.
HPA000868.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
EFEMP2O959673EBI-947897,EBI-743414
ELNP155023EBI-947897,EBI-1222108
FBN1P355553EBI-947897,EBI-2505934
LTBP2Q147672EBI-947897,EBI-1546118

Protein-protein interaction databases

BioGridi115771. 7 interactions.
IntActiQ9UBX5. 16 interactions.
MINTiMINT-2868380.
STRINGi9606.ENSP00000345008.

Structurei

3D structure databases

ProteinModelPortaliQ9UBX5.
SMRiQ9UBX5. Positions 21-327.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini42 – 8241EGF-like 1; calcium-binding Reviewed prediction
Add
BLAST
Domaini127 – 16741EGF-like 2; calcium-binding Reviewed prediction
Add
BLAST
Domaini168 – 20639EGF-like 3; calcium-binding Reviewed prediction
Add
BLAST
Domaini207 – 24640EGF-like 4; calcium-binding Reviewed prediction
Add
BLAST
Domaini247 – 28741EGF-like 5; calcium-binding Reviewed prediction
Add
BLAST
Domaini288 – 33346EGF-like 6; calcium-binding Reviewed prediction
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi54 – 563Cell attachment site Reviewed prediction

Sequence similaritiesi

Belongs to the fibulin family.
Contains 6 EGF-like domains.

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG309650.
HOGENOMiHOG000234337.
HOVERGENiHBG051560.
KOiK17340.
PhylomeDBiQ9UBX5.
TreeFamiTF317514.

Family and domain databases

InterProiIPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view]
PfamiPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 3 hits.
[Graphical view]
SMARTiSM00179. EGF_CA. 4 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 3 hits.
PROSITEiPS00010. ASX_HYDROXYL. 4 hits.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 5 hits.
PS01187. EGF_CA. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9UBX5-1 [UniParc]FASTAAdd to Basket

« Hide

MPGIKRILTV TILALCLPSP GNAQAQCTNG FDLDRQSGQC LDIDECRTIP    50
EACRGDMMCV NQNGGYLCIP RTNPVYRGPY SNPYSTPYSG PYPAAAPPLS 100
APNYPTISRP LICRFGYQMD ESNQCVDVDE CATDSHQCNP TQICINTEGG 150
YTCSCTDGYW LLEGQCLDID ECRYGYCQQL CANVPGSYSC TCNPGFTLNE 200
DGRSCQDVNE CATENPCVQT CVNTYGSFIC RCDPGYELEE DGVHCSDMDE 250
CSFSEFLCQH ECVNQPGTYF CSCPPGYILL DDNRSCQDIN ECEHRNHTCN 300
LQQTCYNLQG GFKCIDPIRC EEPYLRISDN RCMCPAENPG CRDQPFTILY 350
RDMDVVSGRS VPADIFQMQA TTRYPGAYYI FQIKSGNEGR EFYMRQTGPI 400
SATLVMTRPI KGPREIQLDL EMITVNTVIN FRGSSVIRLR IYVSQYPF 448
Length:448
Mass (Da):50,180
Last modified:May 1, 2000 - v1
Checksum:i19FCA51FDA328003
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → L in ARMD3. 1 Publication
Corresponds to variant rs28939371 [ dbSNP | Ensembl ].
VAR_019814
Natural varianti71 – 711R → Q in ARMD3. 1 Publication
Corresponds to variant rs28939372 [ dbSNP | Ensembl ].
VAR_019815
Natural varianti87 – 871P → S in ARMD3. 1 Publication
Corresponds to variant rs28939373 [ dbSNP | Ensembl ].
VAR_019816
Natural varianti169 – 1691I → T in ARMD3. 1 Publication
Corresponds to variant rs28939072 [ dbSNP | Ensembl ].
VAR_019817
Natural varianti227 – 2271S → P in ARCL1A. 2 Publications
Corresponds to variant rs28939370 [ dbSNP | Ensembl ].
VAR_017153
Natural varianti351 – 3511R → W in ARMD3. 1 Publication
Corresponds to variant rs28939073 [ dbSNP | Ensembl ].
VAR_019818
Natural varianti363 – 3631A → T in ARMD3. 1 Publication
VAR_019819
Natural varianti364 – 3641D → Y.
Corresponds to variant rs1802492 [ dbSNP | Ensembl ].
VAR_026986
Natural varianti412 – 4121G → E in ARMD3. 1 Publication
VAR_019820

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti69 – 702IP → HS in AAC62107. 1 Publication
Sequence conflicti147 – 1482TE → MK in AAC62107. 1 Publication
Sequence conflicti228 – 2281F → L in AAQ89257. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human.

Polymorphism databases

DMDMi12643876.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9898.1.
RefSeqi NP_006320.2. NM_006329.3.
UniGenei Hs.332708.

3D structure databases

ProteinModelPortali Q9UBX5.
SMRi Q9UBX5. Positions 21-327.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115771. 7 interactions.
IntActi Q9UBX5. 16 interactions.
MINTi MINT-2868380.
STRINGi 9606.ENSP00000345008.

Polymorphism databases

DMDMi 12643876.

2D gel databases

REPRODUCTION-2DPAGE IPI00294615.

Proteomic databases

PaxDbi Q9UBX5.
PeptideAtlasi Q9UBX5.
PRIDEi Q9UBX5.

Protocols and materials databases

DNASUi 10516.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342058 ; ENSP00000345008 ; ENSG00000140092 .
GeneIDi 10516.
KEGGi hsa:10516.
UCSCi uc001xzx.4. human.

Organism-specific databases

CTDi 10516.
GeneCardsi GC14M092335.
GeneReviewsi FBLN5.
HGNCi HGNC:3602. FBLN5.
HPAi CAB025843.
HPA000848.
HPA000868.
MIMi 219100. phenotype.
604580. gene.
608895. phenotype.
614434. phenotype.
neXtProti NX_Q9UBX5.
Orphaneti 279. Age-related macular degeneration.
90348. Autosomal dominant cutis laxa.
90349. Autosomal recessive cutis laxa type 1.
280598. Hereditary sensorimotor neuropathy with hyperelastic skin.
PharmGKBi PA28015.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309650.
HOGENOMi HOG000234337.
HOVERGENi HBG051560.
KOi K17340.
PhylomeDBi Q9UBX5.
TreeFami TF317514.

Enzyme and pathway databases

Reactomei REACT_150331. Molecules associated with elastic fibres.
REACT_150366. Elastic fibre formation.

Miscellaneous databases

GeneWikii FBLN5.
GenomeRNAii 10516.
NextBioi 39880.
PROi Q9UBX5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UBX5.
Bgeei Q9UBX5.
CleanExi HS_FBLN5.
Genevestigatori Q9UBX5.

Family and domain databases

InterProi IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view ]
Pfami PF12662. cEGF. 1 hit.
PF07645. EGF_CA. 3 hits.
[Graphical view ]
SMARTi SM00179. EGF_CA. 4 hits.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 3 hits.
PROSITEi PS00010. ASX_HYDROXYL. 4 hits.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 5 hits.
PS01187. EGF_CA. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Kostka G.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Melanoma.
  2. "DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries."
    Nakamura T., Ruiz-Lozano P., Lindner V., Yabe D., Taniwaki M., Furukawa Y., Kobuke K., Tashiro K., Lu Z., Andon N.L., Schaub R., Matsumori A., Sasayama S., Chien K.R., Honjo T.
    J. Biol. Chem. 274:22476-22483(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Zemel R., Sholto O., Shaul Y.
    Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Urine.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  9. Cited for: SUBUNIT.
  10. "Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa."
    Loeys B., van Maldergem L., Mortier G., Coucke P., Gerniers S., Naeyaert J.-M., de Paepe A.
    Hum. Mol. Genet. 11:2113-2118(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCL1A PRO-227.
  11. "Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene."
    Markova D., Zou Y., Ringpfeil F., Sasaki T., Kostka G., Timpl R., Uitto J., Chu M.-L.
    Am. J. Hum. Genet. 72:998-1004(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ADCL2.
  12. Cited for: VARIANTS ARMD3 LEU-60; GLN-71; SER-87; THR-169; TRP-351; THR-363 AND GLU-412.
  13. "Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype."
    Elahi E., Kalhor R., Banihosseini S.S., Torabi N., Pour-Jafari H., Houshmand M., Amini S.S.H., Ramezani A., Loeys B.
    J. Invest. Dermatol. 126:1506-1509(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCL1A PRO-227.

Entry informationi

Entry nameiFBLN5_HUMAN
AccessioniPrimary (citable) accession number: Q9UBX5
Secondary accession number(s): O75966, Q6IAL4, Q6UWA3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: September 3, 2014
This is version 141 of the entry and version 1 of the sequence. [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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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