Genular: Defining Cellular Identity and Function

Details for: FBLN5

Gene ID: 10516

Symbol: FBLN5

Ensembl ID: ENSG00000140092

Description: fibulin 5

Associated with

Elastic fibre formation
(R-HSA-1566948)
Extracellular matrix organization
(R-HSA-1474244)
Molecules associated with elastic fibres
(R-HSA-2129379)
Calcium ion binding
(GO:0005509)
Cell-matrix adhesion
(GO:0007160)
Collagen-containing extracellular matrix
(GO:0062023)
Elastic fiber
(GO:0071953)
Elastic fiber assembly
(GO:0048251)
Extracellular exosome
(GO:0070062)
Extracellular matrix
(GO:0031012)
Extracellular matrix constituent conferring elasticity
(GO:0030023)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Integrin binding
(GO:0005178)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Protein localization to cell surface
(GO:0034394)
Regulation of removal of superoxide radicals
(GO:2000121)
Secretion
(GO:0046903)

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: OFF-bipolar cell (CL0000750)
Fold Change: 4.92
Marker Score: 14,589
Cell Name: retinal cone cell (CL0000573)
Fold Change: 3.92
Marker Score: 11,240
Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 3.59
Marker Score: 30,348
Cell Name: retinal rod cell (CL0000604)
Fold Change: 3.41
Marker Score: 9,732
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 2.63
Marker Score: 6,896
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 2.6
Marker Score: 5,002
Cell Name: decidual cell (CL2000002)
Fold Change: 2.31
Marker Score: 9,973
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 2.27
Marker Score: 1,495
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 1.82
Marker Score: 62,044
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 1.82
Marker Score: 2,801
Cell Name: alveolar type 2 fibroblast cell (CL4028006)
Fold Change: 1.65
Marker Score: 920
Cell Name: mesodermal cell (CL0000222)
Fold Change: 1.59
Marker Score: 20,928
Cell Name: adventitial cell (CL0002503)
Fold Change: 1.58
Marker Score: 391
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.58
Marker Score: 1,146
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 1.57
Marker Score: 17,644
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 1.56
Marker Score: 2,398
Cell Name: keratocyte (CL0002363)
Fold Change: 1.56
Marker Score: 358
Cell Name: interstitial cell of Cajal (CL0002088)
Fold Change: 1.49
Marker Score: 516
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 168,794
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.44
Marker Score: 3,384
Cell Name: skin fibroblast (CL0002620)
Fold Change: 1.42
Marker Score: 367
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 1.38
Marker Score: 1,801
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.38
Marker Score: 1,375
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 1.27
Marker Score: 799
Cell Name: fibroblast (CL0000057)
Fold Change: 1.25
Marker Score: 1,206
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 1.17
Marker Score: 1,606
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 1.16
Marker Score: 988
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.14
Marker Score: 4,776
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 1.12
Marker Score: 467
Cell Name: cardiac neuron (CL0010022)
Fold Change: 1.11
Marker Score: 1,387
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 1.11
Marker Score: 632
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 1.1
Marker Score: 949
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 1.05
Marker Score: 1,261
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 1.04
Marker Score: 251,758
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 1.03
Marker Score: 6,724
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.02
Marker Score: 9,719
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 1
Marker Score: 1,240
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71,777
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48,001
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30,404
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.96
Marker Score: 494
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.96
Marker Score: 526
Cell Name: fibroblast of connective tissue of prostate (CL1000299)
Fold Change: 0.95
Marker Score: 237
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.95
Marker Score: 449
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2,409
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.94
Marker Score: 2,153
Cell Name: prostate stromal cell (CL0002622)
Fold Change: 0.94
Marker Score: 237
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.94
Marker Score: 5,660
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.94
Marker Score: 1,077
Cell Name: inflammatory cell (CL0009002)
Fold Change: 0.92
Marker Score: 394
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2,728
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.91
Marker Score: 363
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.88
Marker Score: 5,030
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.88
Marker Score: 317
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.88
Marker Score: 528
Cell Name: fat cell (CL0000136)
Fold Change: 0.87
Marker Score: 486
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5,268
Cell Name: stromal cell (CL0000499)
Fold Change: 0.85
Marker Score: 991
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.83
Marker Score: 1,042
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.83
Marker Score: 552
Cell Name: lactocyte (CL0002325)
Fold Change: 0.8
Marker Score: 12,784
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.79
Marker Score: 603
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1,268
Cell Name: brush cell (CL0002204)
Fold Change: 0.76
Marker Score: 694
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.75
Marker Score: 386
Cell Name: muscle cell (CL0000187)
Fold Change: 0.73
Marker Score: 207
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 0.72
Marker Score: 674
Cell Name: reticular cell (CL0000432)
Fold Change: 0.7
Marker Score: 254
Cell Name: neural cell (CL0002319)
Fold Change: 0.69
Marker Score: 335
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.69
Marker Score: 10,779
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 174
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.65
Marker Score: 168
Cell Name: theca cell (CL0000503)
Fold Change: 0.65
Marker Score: 463
Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
Fold Change: 0.64
Marker Score: 143
Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 0.62
Marker Score: 258
Cell Name: supporting cell (CL0000630)
Fold Change: 0.61
Marker Score: 1,150
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.61
Marker Score: 253
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.61
Marker Score: 6,280
Cell Name: acinar cell (CL0000622)
Fold Change: 0.61
Marker Score: 427
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.6
Marker Score: 264
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.59
Marker Score: 188
Cell Name: germ cell (CL0000586)
Fold Change: 0.56
Marker Score: 981
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 444
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 0.54
Marker Score: 516
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 0.53
Marker Score: 915
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.53
Marker Score: 236
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.53
Marker Score: 255
Cell Name: eukaryotic cell (CL0000255)
Fold Change: 0.52
Marker Score: 270
Cell Name: platelet (CL0000233)
Fold Change: 0.51
Marker Score: 232
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 0.51
Marker Score: 4,450
Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 0.51
Marker Score: 191
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 0.5
Marker Score: 157
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.49
Marker Score: 506
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.48
Marker Score: 445
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.48
Marker Score: 150
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 0.48
Marker Score: 313
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 0.48
Marker Score: 25,130
Cell Name: pro-T cell (CL0000827)
Fold Change: 0.47
Marker Score: 1,940
Cell Name: T follicular helper cell (CL0002038)
Fold Change: 0.47
Marker Score: 393
Cell Name: DN3 thymocyte (CL0000807)
Fold Change: 0.47
Marker Score: 236

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

**Key Characteristics** Fibulin-5 exhibits several key characteristics that distinguish it from other fibulins: 1. **Elastic fiber assembly**: FBLN5 is essential for the assembly and organization of elastic fibers, which are composed of elastic protein (ELN) and fibrillin-1 (FBN1). 2. **Cell-matrix adhesion**: FBLN5 interacts with other proteins, such as integrins and laminins, to regulate cell-matrix adhesion and migration. 3. **Protein homodimerization**: FBLN5 can form homodimers, which are essential for its function in elastic fiber assembly. 4. **Secretion**: FBLN5 is secreted by cells, where it can interact with other extracellular matrix components. **Pathways and Functions** Fibulin-5 is involved in several key pathways and functions: 1. **Elastic fiber formation**: FBLN5 regulates the assembly and organization of elastic fibers, which are essential for tissue elasticity and resilience. 2. **Cell-matrix adhesion**: FBLN5 interacts with other proteins to regulate cell-matrix adhesion and migration, which is essential for tissue development and repair. 3. **Extracellular matrix organization**: FBLN5 contributes to the organization and structure of the extracellular matrix, which is essential for tissue function and integrity. 4. **Superoxide radical removal**: FBLN5 has been shown to regulate the removal of superoxide radicals, which is essential for maintaining tissue homeostasis. **Clinical Significance** Dysregulation of FBLN5 has been implicated in various diseases, including: 1. **Marfan syndrome**: Mutations in FBN1, the gene encoding fibrillin-1, can lead to Marfan syndrome, a disorder characterized by elastic fiber defects. 2. **Ehlers-Danlos syndrome**: Mutations in FBN1 can also lead to Ehlers-Danlos syndrome, a disorder characterized by defective elastic fiber assembly. 3. **Retinal diseases**: FBLN5 has been implicated in retinal diseases, such as retinal cone cell degeneration, where it plays a crucial role in elastic fiber assembly and organization. 4. **Cancer**: FBLN5 has been shown to regulate cell-matrix adhesion and migration, which is essential for cancer progression and metastasis. In conclusion, fibulin-5 is a critical protein that plays a key role in the formation and organization of elastic fibers, regulating cell-matrix adhesion, protein homodimerization, and secretion. Its dysregulation has been implicated in various diseases, highlighting the importance of FBLN5 in maintaining tissue homeostasis and integrity.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Fibulin-5

Genular Protein ID: 3831761225

Symbol: FBLN5_HUMAN

Name: Fibulin-5

UniProtKB Accession Codes:

Q9UBX5 O75966 Q6IAL4 Q6UWA3

Database IDs:

Citations:

PubMed ID: 10428823

Title: DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries.

PubMed ID: 10428823

DOI: 10.1074/jbc.274.32.22476

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

DOI: 10.1093/dnares/12.2.117

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

DOI: 10.1074/jbc.m608204200

PubMed ID: 19570982

Title: Differential regulation of elastic fiber formation by fibulin-4 and -5.

PubMed ID: 19570982

DOI: 10.1074/jbc.m109.019364

PubMed ID: 19617354

Title: Fibulin 5 forms a compact dimer in physiological solutions.

PubMed ID: 19617354

DOI: 10.1074/jbc.m109.011627

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 12189163

Title: Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

PubMed ID: 12189163

DOI: 10.1093/hmg/11.18.2113

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

DOI: 10.1038/sj.jid.5700247

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

DOI: 10.1038/sj.jid.5701211

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

DOI: 10.1016/j.jmb.2010.06.039

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.

Details for: FBLN5

Associated with

Cells (max top 100)

Other Information

DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. PubMed ID: 10428823

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. PubMed ID: 12975309

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

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Fibulin-5 interacts with fibrillin-1 molecules and microfibrils. PubMed ID: 15790312

Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. PubMed ID: 17255108

Differential regulation of elastic fiber formation by fibulin-4 and -5. PubMed ID: 19570982

Fibulin 5 forms a compact dimer in physiological solutions. PubMed ID: 19617354

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. PubMed ID: 12189163

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. PubMed ID: 12618961

Missense variations in the fibulin 5 gene and age-related macular degeneration. PubMed ID: 15269314

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. PubMed ID: 17035250

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. PubMed ID: 16652333

Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. PubMed ID: 16691202

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

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

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. PubMed ID: 20007835

Biophysical characterisation of fibulin-5 proteins associated with disease. PubMed ID: 20599547

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. PubMed ID: 21576112

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. PubMed ID: 23328402