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FBLN1 fibulin 1 [ Homo sapiens (human) ]

Gene ID: 2192, updated on 24-Nov-2020

Summary

Official Symbol
FBLN1provided by HGNC
Official Full Name
fibulin 1provided by HGNC
Primary source
HGNC:HGNC:3600
See related
Ensembl:ENSG00000077942 MIM:135820
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

Genomic context

See FBLN1 in Genome Data Viewer
Location:
22q13.31
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (45502883..45601135)
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

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
Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
GeneReviews: Not available
Synpolydactyly 2
MedGen: C1842422 OMIM: 608180 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
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-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001996.4NP_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
    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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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