Homo Sapiens
FBN1 - fibrillin 1
Alias:
FBN
SGS
WMS
MASS
MFLS
MFS1
OCTD
SSKS
WMS2
ACMICD
ECTOL1
GPHYSD2
Human disease related genes
Plasma proteins
Basic Information
Sequence Homology
Genomic Information
Disease & Mutation
Transcripts & Proteins
Gene Expression
Subcellular Localization
Protein Interaction
Drugs
Basic Information
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
About FBN1
Related ID:
Transcript:This gene currently contains 4 transcripts in the database.
Protein:4 protein isoforms have been identified for this gene.
Chromosome:This gene is located on chromosome 15.
Exon:This gene is found to have 68 exons.
Gene length:This gene has a full length of 237397 base pairs.
Sequence Homology
Humans, mice, and rats have highly similar genes, making them important for disease research and drug development. By studying their gene relationships, researchers can develop effective treatments for both humans and animals. Gene homology among these organisms allows for the translation of animal experimental results to humans, improving disease treatment and prevention.
Genomic Information
Genomic information encompasses all genetic information about an organism's or population's genome, including its content, structure, and function.The study of genomic data can help us better comprehend the genetic traits and evolutionary history of species, uncover the link between genes and phenotypes, investigate disease mechanisms, and provide the groundwork for customized therapy.
Genome location
Assembly
Chromosome
Location
Gene size
Orientation
Database
No data available
This section is currently in development, please stay tuned for our data updates.
Disease & Mutation
We collected over two million mutation sites from the ClinVar database and classified them at RDDC. Based on the categories assigned by ClinVar, we conducted a rigorous screening and filtered out low-quality mutation sites to ensure data accuracy.
Pathogenicity Classification
Transcripts & Proteins
Transcripts are RNA molecules that are created during DNA transcription, and the translation products of these transcripts are proteins that serve numerous roles in the body. Transcripts and proteins are both important in biological research. The research of transcripts can help us uncover the subtle links between genes and illnesses, whereas the study of proteins can help us understand the processes of cellular function and disease etiology, as well as give prospective treatment targets.
Gene Expression
The larger the RPKM calculation result, the higher the expression level of the corresponding gene.
RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues.
Organ
Expression
Alphabetical
Subcellular Localization
Subcellular localization is the process of locating certain molecules or cell structures. It is highly valuable for study in the life sciences.It aids in the understanding of physiological processes and cell functioning by researchers. A thorough understanding of critical processes such cell tissue shape, signal transduction, and metabolic pathways will give a solid foundation for the detection and treatment of illnesses by identifying the locations of molecules within cells.
Distribution of FBN1 protein:
Protein Interaction
Protein-protein interaction is when two or more proteins bind together to perform their functions. It plays a vital role in most biochemical processes, such as signal molecules transmitting signals between cells. Molecular machines within the cells perform important functions through protein-protein interactions.
Protein 1
Protein 2
Entrez ID
Description
Score
No data available
Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
Name
CAS Number
Status
Phase
Group
Mechanism of Action
Link
No data available
BioGPT