• Gene id: 10516

Gene Summary

• Gene Symbol: FBLN5   Gene   UCSC   Ensembl
• Aliases: ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, HNARMD, UP50
• Gene name: fibulin 5
• Alternate names: fibulin-5, developmental arteries and neural crest EGF-like protein, embryonic vascular EGF-like repeat-containing protein, testis tissue sperm-binding protein Li 75n, urine p50 protein,
• Gene location: 14q32.12 (97185958: 96998037)     Exons: 37     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is pr
• OMIM: 604580

Protein Summary

• Protein general information: Q9UBX5  
  • Name: Fibulin 5 (FIBL 5) (Developmental arteries and neural crest EGF like protein) (Dance) (Urine p50 protein) (UP50)
  • Length: 448  
  • Mass: 50180
  • Tissue specificity: Expressed in skin fibroblasts (at protein level)(PubMed
• Sequence:

  MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQNGGYLCIPRTNPV
  YRGPYSNPYSTPYSGPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQICINTEGG
  YTCSCTDGYWLLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTY
  GSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCN
  LQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYP
  GAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDLEMITVNTVINFRGSSVIRLRIYVSQYPF

• Structural information:
  • Protein Domains: (42..8-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (127..16-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (168..20-)
    (/note="EGF-like-)
    (-)
  • Interpro: IPR026823  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR037288  IPR009030  
  • Prosite: PS00010 PS01186 PS50026 PS01187
  • DIP: 44301
  • STRING: ENSP00000345008
• Other Databases: GeneCards:  FBLN5  Malacards:  FBLN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048251	elastic fiber assembly	IBA	biological process
GO:0046903	secretion	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0005178	integrin binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048251	elastic fiber assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0048251	elastic fiber assembly	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005178	integrin binding	TAS	molecular function
GO:0031012	extracellular matrix	TAS	cellular component
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0033690	positive regulation of osteoblast proliferation	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0071953	elastic fiber	IEA	cellular component
GO:0001558	regulation of cell growth	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0034394	protein localization to cell surface	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048251	elastic fiber assembly	IEA	biological process
GO:0098867	intramembranous bone growth	IEA	biological process
GO:2000121	regulation of removal of superoxide radicals	IEA	biological process
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0071953	elastic fiber	ISS	colocalizes with
GO:0034394	protein localization to cell surface	ISS	biological process
GO:0048251	elastic fiber assembly	ISS	biological process
GO:2000121	regulation of removal of superoxide radicals	ISS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Cutis laxa	KEGG:H00557
Age-related macular degeneration	KEGG:H00821
Cutis laxa	KEGG:H00557
Cutis laxa	PMID:12189163
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)