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    FBLN5 fibulin 5 [ Homo sapiens (human) ]

    Gene ID: 10516, updated on 20-Feb-2017
    Official Symbol
    FBLN5provided by HGNC
    Official Full Name
    fibulin 5provided by HGNC
    Primary source
    HGNC:HGNC:3602
    See related
    Ensembl:ENSG00000140092 MIM:604580; Vega:OTTHUMG00000171122
    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
    Also known as
    EVEC; UP50; ADCL2; ARMD3; DANCE; ARCL1A; FIBL-5; HNARMD
    Summary
    The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    14q32.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (91869411..91947702, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92335755..92414046, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cation channel sperm associated auxiliary subunit beta Neighboring gene pyruvate dehydrogenase kinase 3 pseudogene Neighboring gene tandem C2 domains, nuclear Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene prothymosin, alpha pseudogene 7 Neighboring gene ataxin 3

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    • Elastic fibre formation, organism-specific biosystem (from REACTOME)
      Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
      Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ90059

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    integrin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell-matrix adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    elastic fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    protein localization to cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of removal of superoxide radicals ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with elastic fiber ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    fibulin-5
    Names
    developmental arteries and neural crest EGF-like protein
    testis tissue sperm-binding protein Li 75n
    urine p50 protein

    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.

    Genomic

    1. NG_008254.1 RefSeqGene

      Range
      5001..83292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_364

    mRNA and Protein(s)

    1. NM_006329.3NP_006320.2  fibulin-5 precursor

      See identical proteins and their annotated locations for NP_006320.2

      Status: REVIEWED

      Source sequence(s)
      AA812956, BC022280, BP338841, DB263961
      Consensus CDS
      CCDS9898.1
      UniProtKB/Swiss-Prot
      Q9UBX5
      UniProtKB/TrEMBL
      A0A024R6G3
      Related
      ENSP00000345008, OTTHUMP00000245161, ENST00000342058, OTTHUMT00000411787
      Conserved Domains (4) summary
      smart00179
      Location:207245
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:187210
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:258286
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:125165
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      91869411..91947702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536357.1XP_011534659.1  fibulin-5 isoform X3

      Conserved Domains (3) summary
      smart00179
      Location:207245
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:187210
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:245285
      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 ...
    2. XM_017020929.1XP_016876418.1  fibulin-5 isoform X5

      Conserved Domains (4) summary
      smart00179
      Location:151189
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:131154
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:202230
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:69109
      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 ...
    3. XM_011536358.1XP_011534660.1  fibulin-5 isoform X4

      Conserved Domains (3) summary
      smart00179
      Location:151189
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:131154
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:189229
      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 ...
    4. XM_005267267.3XP_005267324.1  fibulin-5 isoform X2

      See identical proteins and their annotated locations for XP_005267324.1

      Related
      ENSP00000451982, OTTHUMP00000245162, ENST00000556154, OTTHUMT00000411788
      Conserved Domains (4) summary
      smart00179
      Location:224262
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:204227
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:275303
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:142182
      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 ...
    5. XM_011536356.1XP_011534658.1  fibulin-5 isoform X1

      Conserved Domains (3) summary
      smart00179
      Location:224262
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:204227
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:262302
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      92273834..92352362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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