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    FBN3 fibrillin 3 [ Homo sapiens (human) ]

    Gene ID: 84467, updated on 28-Oct-2024

    Summary

    Official Symbol
    FBN3provided by HGNC
    Official Full Name
    fibrillin 3provided by HGNC
    Primary source
    HGNC:HGNC:18794
    See related
    Ensembl:ENSG00000142449 MIM:608529; AllianceGenome:HGNC:18794
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FBN3 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    68
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8065402..8149592, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8066415..8150695, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 10008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8094053-8095028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10010 Neighboring gene C-C motif chemokine ligand 25 Neighboring gene MPRA-validated peak3327 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8175802-8176302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8180417-8180917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8183744-8184561 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185348-8185938 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185939-8186529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8193691-8194192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8206295-8206796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8208101-8208645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8211691-8212662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8212663-8213633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10011 Neighboring gene Sharpr-MPRA regulatory region 3488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8226075-8226576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8228221-8229026 Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260104-8260957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260958-8261810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8268618-8269588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8280063-8280564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8285012-8285518 Neighboring gene ceramide synthase 4 Neighboring gene uncharacterized LOC107985282

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microfibril IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8
      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, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017027372.2XP_016882861.1  fibrillin-3 isoform X1

      UniProtKB/Swiss-Prot
      Q75N90, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8
      UniProtKB/TrEMBL
      A8KAY2
      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_017027374.3XP_016882863.1  fibrillin-3 isoform X3

      UniProtKB/TrEMBL
      A8KAY2
    3. XM_017027375.3XP_016882864.1  fibrillin-3 isoform X4

      UniProtKB/TrEMBL
      A8KAY2
    4. XM_017027376.2XP_016882865.1  fibrillin-3 isoform X5

      UniProtKB/TrEMBL
      A8KAY2
    5. XM_017027373.2XP_016882862.1  fibrillin-3 isoform X2

      UniProtKB/TrEMBL
      A8KAY2
    6. XM_017027379.2XP_016882868.1  fibrillin-3 isoform X8

      UniProtKB/TrEMBL
      A0A494C0D8, A8KAY2
      Related
      ENSP00000498507.1, ENST00000651877.1
    7. XM_017027377.3XP_016882866.1  fibrillin-3 isoform X6

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      8066415..8150695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322351.1XP_054178326.1  fibrillin-3 isoform X1

    2. XM_054322353.1XP_054178328.1  fibrillin-3 isoform X3

    3. XM_054322354.1XP_054178329.1  fibrillin-3 isoform X4

    4. XM_054322355.1XP_054178330.1  fibrillin-3 isoform X5

    5. XM_054322352.1XP_054178327.1  fibrillin-3 isoform X2

    6. XM_054322358.1XP_054178333.1  fibrillin-3 isoform X8

    7. XM_054322356.1XP_054178331.1  fibrillin-3 isoform X6

    8. XM_054322357.1XP_054178332.1  fibrillin-3 isoform X7