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    FBLN1 fibulin 1 [ Homo sapiens (human) ]

    Gene ID: 2192, updated on 4-Sep-2016
    Official Symbol
    FBLN1provided by HGNC
    Official Full Name
    fibulin 1provided by HGNC
    Primary source
    HGNC:HGNC:3600
    See related
    Ensembl:ENSG00000077942 HPRD:00629; MIM:135820; Vega:OTTHUMG00000151340
    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
    FBLN; FIBL1
    Summary
    Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    22q13.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (45502839..45601134)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45898719..45997014)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985537 Neighboring gene uncharacterized LOC105373066 Neighboring gene long intergenic non-protein coding RNA 1589 Neighboring gene RNA, U6 small nuclear 1161, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Synpolydactyly 2
    MedGen: C1842422 OMIM: 608180 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix structural constituent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrinogen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    fibronectin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    elastic fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with fibrinogen complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_023308.2 RefSeqGene

      Range
      5001..103296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001996.3NP_001987.2  fibulin-1 isoform C precursor

      See identical proteins and their annotated locations for NP_001987.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) has an alternate 3' sequence, as compared to variant D. The encoded isoform C is shorter and has a distinct C-terminus, as compared to isoform D.
      Source sequence(s)
      BC022497, BX424750, BX443677, CB852401, Z98047
      Consensus CDS
      CCDS14069.1
      UniProtKB/Swiss-Prot
      P23142
      Related
      ENSP00000262722, OTTHUMP00000199866, ENST00000262722, OTTHUMT00000322289
      Conserved Domains (6) summary
      smart00179
      Location:356389
      EGF_CA; Calcium-binding EGF-like domain
      cd00017
      Location:3079
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      pfam07645
      Location:216259
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:504528
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:479522
      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:262298
      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_006485.3NP_006476.2  fibulin-1 isoform B precursor

      See identical proteins and their annotated locations for NP_006476.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) has an alternate 3' sequence, as compared to variant D. The encoded isoform B is shorter and has a distinct C-terminus, as compared to isoform D.
      Source sequence(s)
      AK075566, BC022497, BX424750, BX443677, Z95331
      Consensus CDS
      CCDS14068.1
      UniProtKB/Swiss-Prot
      P23142
      UniProtKB/TrEMBL
      Q8NBH6
      Related
      ENSP00000393812, OTTHUMP00000199867, ENST00000442170, OTTHUMT00000322290
      Conserved Domains (7) summary
      smart00179
      Location:356389
      EGF_CA; Calcium-binding EGF-like domain
      cd00017
      Location:3079
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      pfam07645
      Location:216259
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:504528
      cEGF; Complement Clr-like EGF-like
      cl00032
      Location:97152
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cl00057
      Location:479522
      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:525561
      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 ...
    3. NM_006486.2NP_006477.2  fibulin-1 isoform D precursor

      See identical proteins and their annotated locations for NP_006477.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) encodes the longest isoform (D).
      Source sequence(s)
      AF126110, AK075566, BX424750, BX443677, Z98047
      Consensus CDS
      CCDS14067.1
      UniProtKB/Swiss-Prot
      P23142
      UniProtKB/TrEMBL
      Q8NBH6
      Related
      ENSP00000331544, OTTHUMP00000199864, ENST00000327858, OTTHUMT00000322287
      Conserved Domains (6) summary
      smart00179
      Location:356389
      EGF_CA; Calcium-binding EGF-like domain
      cd00017
      Location:3079
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      pfam07645
      Location:216259
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:504528
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:479522
      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:262298
      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 ...
    4. NM_006487.2NP_006478.2  fibulin-1 isoform A precursor

      See identical proteins and their annotated locations for NP_006478.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) has an alternate 3' sequence, as compared to variant D. The encoded isoform A is the shortest among the four isoforms, and it has a distinct C-terminus, as compared to isoform A.
      Source sequence(s)
      AF217999, BX424750, BX443677, X53741, Z95331
      Consensus CDS
      CCDS43028.1
      UniProtKB/Swiss-Prot
      P23142
      Related
      ENSP00000342212, OTTHUMP00000214005, ENST00000340923, OTTHUMT00000353171
      Conserved Domains (7) summary
      smart00179
      Location:356389
      EGF_CA; Calcium-binding EGF-like domain
      cd00017
      Location:3079
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      pfam07645
      Location:216259
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:421444
      cEGF; Complement Clr-like EGF-like
      cl00032
      Location:97152
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cl00057
      Location:479522
      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:525561
      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 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_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      45502839..45601134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      45857451..45955744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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