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    FBLN1 fibulin 1 [ Homo sapiens (human) ]

    Gene ID: 2192, updated on 7-Apr-2024

    Summary

    Official Symbol
    FBLN1provided by HGNC
    Official Full Name
    fibulin 1provided by HGNC
    Primary source
    HGNC:HGNC:3600
    See related
    Ensembl:ENSG00000077942 MIM:135820; AllianceGenome:HGNC:3600
    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]
    Expression
    Broad expression in gall bladder (RPKM 239.4), placenta (RPKM 204.3) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FBLN1 in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45502883..45601135)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45987730..46085865)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45898763..45997015)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45872155-45872654 Neighboring gene uncharacterized LOC105373066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45895138-45895774 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:45899377-45899990 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:45899991-45900604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45900605-45901218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45901219-45901832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45901833-45902444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45911021-45911955 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45920127-45920678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45924419-45924969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45942415-45942916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45942917-45943416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45944251-45945038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45997202-45997774 Neighboring gene long intergenic non-protein coding RNA 1589 Neighboring gene RNA, U6 small nuclear 1161, pseudogene

    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?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

    Description
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables extracellular matrix structural constituent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables fibrinogen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables fibronectin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peptidase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    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.

    Genomic

    1. NG_023308.3 RefSeqGene

      Range
      5002..103254
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001996.4NP_001987.3  fibulin-1 isoform C precursor

      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)
      AL021391, Z95331, Z98047
      Consensus CDS
      CCDS14069.1
      UniProtKB/TrEMBL
      A0A8S0LWY1, A0A8S0MAG0
      Related
      ENSP00000262722.7, ENST00000262722.11
      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:395438
      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_006485.4NP_006476.3  fibulin-1 isoform B precursor

      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)
      AL021391, Z95331, Z98047
      Consensus CDS
      CCDS14068.1
      UniProtKB/TrEMBL
      A0A8S0MAG0
      Related
      ENSP00000393812.2, ENST00000442170.6
      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_006486.3NP_006477.3  fibulin-1 isoform D precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) encodes the longest isoform (D).
      Source sequence(s)
      AL021391, Z95331, Z98047
      Consensus CDS
      CCDS14067.1
      UniProtKB/Swiss-Prot
      B0QY42, B1AHL4, P23142, P23143, P23144, P37888, Q5TIC4, Q8TBH8, Q9HBQ5, Q9UC21, Q9UGR4, Q9UH41
      UniProtKB/TrEMBL
      Q8NBH6
      Related
      ENSP00000331544.6, ENST00000327858.11
      Conserved Domains (7) summary
      smart00179
      Location:308355
      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 ...
      cd00054
      Location:356389
      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 ...
      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_006487.3NP_006478.3  fibulin-1 isoform A precursor

      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)
      AL021391, Z95331, Z98047
      Consensus CDS
      CCDS43028.1
      UniProtKB/TrEMBL
      A0A8S0MAG0
      Related
      ENSP00000342212.5, ENST00000340923.9
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      45502883..45601135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      45987730..46085865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)