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FBN3 (NM_032447) - fibrillin 3

Fibrillin-3 Precursor

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of FBN3 protein.
FBN3: fibrillin-3 precursor
Description:

This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: AY165863.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000600128.6/ ENSP00000470498.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Strand
-
Chromosome
19
Protein
2809 residues
All mutations
678
PTM sites
1
CDS
8,130,802 - 8,212,364
Transcription
8,130,286 - 8,212,385
11.32% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 84467
UniProt
Ensembl