Associated with
Other Information
Genular Protein ID: 3831761225
Symbol: FBLN5_HUMAN
Name: Fibulin-5
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10428823
Title: DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries.
PubMed ID: 10428823
PubMed ID: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 16303743
Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
PubMed ID: 16303743
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15790312
Title: Fibulin-5 interacts with fibrillin-1 molecules and microfibrils.
PubMed ID: 15790312
DOI: 10.1042/bj20050368
PubMed ID: 17255108
Title: Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.
PubMed ID: 17255108
PubMed ID: 19570982
Title: Differential regulation of elastic fiber formation by fibulin-4 and -5.
PubMed ID: 19570982
PubMed ID: 19617354
Title: Fibulin 5 forms a compact dimer in physiological solutions.
PubMed ID: 19617354
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 12189163
Title: Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
PubMed ID: 12189163
PubMed ID: 12618961
Title: Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
PubMed ID: 12618961
DOI: 10.1086/373940
PubMed ID: 15269314
Title: Missense variations in the fibulin 5 gene and age-related macular degeneration.
PubMed ID: 15269314
DOI: 10.1056/nejmoa040833
PubMed ID: 17035250
Title: Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
PubMed ID: 17035250
DOI: 10.1093/hmg/ddl414
PubMed ID: 16652333
Title: Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
PubMed ID: 16652333
DOI: 10.1002/humu.20344
PubMed ID: 16691202
Title: Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
PubMed ID: 16691202
PubMed ID: 18185537
Title: A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
PubMed ID: 18185537
PubMed ID: 19194475
Title: An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
PubMed ID: 19194475
DOI: 10.1038/jid.2008.450
PubMed ID: 20007835
Title: Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
PubMed ID: 20007835
DOI: 10.1167/iovs.09-4620
PubMed ID: 20599547
Title: Biophysical characterisation of fibulin-5 proteins associated with disease.
PubMed ID: 20599547
PubMed ID: 21576112
Title: Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
PubMed ID: 21576112
DOI: 10.1093/brain/awr076
PubMed ID: 23328402
Title: Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
PubMed ID: 23328402
DOI: 10.1093/brain/aws333
Sequence Information:
- Length: 448
- Mass: 50180
- Checksum: 19FCA51FDA328003
- Sequence:
MPGIKRILTV TILALCLPSP GNAQAQCTNG FDLDRQSGQC LDIDECRTIP EACRGDMMCV NQNGGYLCIP RTNPVYRGPY SNPYSTPYSG PYPAAAPPLS APNYPTISRP LICRFGYQMD ESNQCVDVDE CATDSHQCNP TQICINTEGG YTCSCTDGYW LLEGQCLDID ECRYGYCQQL CANVPGSYSC TCNPGFTLNE DGRSCQDVNE CATENPCVQT CVNTYGSFIC RCDPGYELEE DGVHCSDMDE CSFSEFLCQH ECVNQPGTYF CSCPPGYILL DDNRSCQDIN ECEHRNHTCN LQQTCYNLQG GFKCIDPIRC EEPYLRISDN RCMCPAENPG CRDQPFTILY RDMDVVSGRS VPADIFQMQA TTRYPGAYYI FQIKSGNEGR EFYMRQTGPI SATLVMTRPI KGPREIQLDL EMITVNTVIN FRGSSVIRLR IYVSQYPF
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.