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FBN3 fibrillin 3 [ Homo sapiens (human) ]

Gene ID: 84467, updated on 11-Jun-2021

Summary

Official Symbol
FBN3provided by HGNC
Official Full Name
fibrillin 3provided by HGNC
Primary source
HGNC:HGNC:18794
See related
Ensembl:ENSG00000142449 MIM:608529
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See FBN3 in Genome Data Viewer
Location:
19p13.2
Exon count:
68
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (8065402..8149592, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8130286..8214476, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372266 Neighboring gene C-C motif chemokine ligand 25 Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene ceramide synthase 4 Neighboring gene uncharacterized LOC107985282

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1776

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001321431.2NP_001308360.1  fibrillin-3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008946, AC022146, AY165864, BC153882
    Consensus CDS
    CCDS12196.1
    UniProtKB/Swiss-Prot
    Q75N90
    UniProtKB/TrEMBL
    A8KAY2
    Related
    ENSP00000472324.1, ENST00000601739.5
    Conserved Domains (9) summary
    smart00179
    Location:15631599
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:24852519
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:15061541
    TB; TB domain
    pfam07645
    Location:489529
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:19091932
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:12841319
    EGF_3; EGF domain
    pfam14670
    Location:11591194
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:24032443
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl21504
    Location:23632403
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
  2. NM_032447.5NP_115823.3  fibrillin-3 precursor

    See identical proteins and their annotated locations for NP_115823.3

    Status: REVIEWED

    Source sequence(s)
    AC008946, AC022146, AY165863, BC153882
    Consensus CDS
    CCDS12196.1
    UniProtKB/Swiss-Prot
    Q75N90
    UniProtKB/TrEMBL
    A8KAY2
    Related
    ENSP00000470498.1, ENST00000600128.6
    Conserved Domains (9) summary
    smart00179
    Location:15631599
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:24852519
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:15061541
    TB; TB domain
    pfam07645
    Location:489529
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:19091932
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:12841319
    EGF_3; EGF domain
    pfam14670
    Location:11591194
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:24032443
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl21504
    Location:23632403
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    8065402..8149592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027372.1XP_016882861.1  fibrillin-3 isoform X1

    UniProtKB/Swiss-Prot
    Q75N90
    Related
    ENSP00000270509.2, ENST00000270509.6
    Conserved Domains (9) summary
    smart00179
    Location:15631599
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:24852519
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:15061541
    TB; TB domain
    pfam07645
    Location:489529
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:19091932
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:12841319
    EGF_3; EGF domain
    pfam14670
    Location:11591194
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:24032443
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl21504
    Location:23632403
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
  2. XM_017027376.1XP_016882865.1  fibrillin-3 isoform X5

  3. XM_017027373.1XP_016882862.1  fibrillin-3 isoform X2

  4. XM_017027379.1XP_016882868.1  fibrillin-3 isoform X8

    Related
    ENSP00000498507.1, ENST00000651877.1
  5. XM_017027374.2XP_016882863.1  fibrillin-3 isoform X3

  6. XM_017027375.2XP_016882864.1  fibrillin-3 isoform X4

  7. XM_017027377.2XP_016882866.1  fibrillin-3 isoform X6

  8. XM_017027378.2XP_016882867.1  fibrillin-3 isoform X7

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