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    FBLN5 fibulin 5 [ Homo sapiens (human) ]

    Gene ID: 10516, updated on 17-Jun-2024

    Summary

    Official Symbol
    FBLN5provided by HGNC
    Official Full Name
    fibulin 5provided by HGNC
    Primary source
    HGNC:HGNC:3602
    See related
    Ensembl:ENSG00000140092 MIM:604580; AllianceGenome:HGNC:3602
    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; CMT1H; 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]
    Expression
    Broad expression in gall bladder (RPKM 67.7), spleen (RPKM 57.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FBLN5 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (91869411..91947694, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (86098901..86177154, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92335755..92414038, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cation channel sperm associated auxiliary subunit beta Neighboring gene small nucleolar RNA U3 Neighboring gene MPRA-validated peak2233 silencer Neighboring gene tandem C2 domains, nuclear Neighboring gene uncharacterized LOC124903362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8925 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92363455-92363968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92392675-92393174 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92506403-92507190 Neighboring gene uncharacterized LOC124903363 Neighboring gene MPRA-validated peak2235 silencer Neighboring gene MPRA-validated peak2236 silencer Neighboring gene prothymosin alpha pseudogene 7 Neighboring gene ataxin 3

    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

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ90059

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix constituent conferring elasticity RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables integrin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-matrix adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in elastic fiber assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in elastic fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of removal of superoxide radicals ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fibulin-5
    Names
    developmental arteries and neural crest EGF-like protein
    embryonic vascular EGF-like repeat-containing protein
    testis tissue sperm-binding protein Li 75n
    urine p50 protein

    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_008254.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001384158.1NP_001371087.1  fibulin-5 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL590328
      Consensus CDS
      CCDS91919.1
      UniProtKB/TrEMBL
      A0A9L9PY85, G3XA98
      Related
      ENSP00000267620.10, ENST00000267620.14
      Conserved Domains (5) summary
      smart00179
      Location:248286
      EGF_CA; Calcium-binding EGF-like domain
      pfam07645
      Location:168201
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:228251
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:299327
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:202245
      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. NM_001384159.1NP_001371088.1  fibulin-5 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL590328
      UniProtKB/TrEMBL
      A0A9L9PY85, G3V4U0
      Related
      ENSP00000451982.2, ENST00000556154.5
      Conserved Domains (5) summary
      smart00179
      Location:224262
      EGF_CA; Calcium-binding EGF-like domain
      pfam07645
      Location:144177
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:204227
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:275303
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:178221
      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. NM_001384160.1NP_001371089.1  fibulin-5 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL590328
      UniProtKB/TrEMBL
      A0A9L9PXD9
      Related
      ENSP00000516493.1, ENST00000706677.1
      Conserved Domains (5) summary
      smart00179
      Location:207245
      EGF_CA; Calcium-binding EGF-like domain
      pfam07645
      Location:127160
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:187210
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:258286
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:161204
      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. NM_001384161.1NP_001371090.1  fibulin-5 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL590328
      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 ...
    5. NM_001384162.1NP_001371091.1  fibulin-5 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL590328
      UniProtKB/TrEMBL
      G3V2P8
      Related
      ENSP00000450787.2, ENST00000557570.2
      Conserved Domains (5) summary
      smart00179
      Location:151189
      EGF_CA; Calcium-binding EGF-like domain
      pfam07645
      Location:71104
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:131154
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:202230
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:105148
      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 ...
    6. NM_006329.4NP_006320.2  fibulin-5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006320.2

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL590328
      Consensus CDS
      CCDS9898.1
      UniProtKB/Swiss-Prot
      O75966, Q6IAL4, Q6UWA3, Q9UBX5
      UniProtKB/TrEMBL
      A0A024R6G3, A0A9L9PY85
      Related
      ENSP00000345008.4, ENST00000342058.9
      Conserved Domains (5) summary
      smart00179
      Location:207245
      EGF_CA; Calcium-binding EGF-like domain
      pfam07645
      Location:127160
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:187210
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:258286
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:161204
      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: 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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      91869411..91947694 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536356.2XP_011534658.1  fibulin-5 isoform X1

      UniProtKB/TrEMBL
      A0A9L9PY85
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      86098901..86177154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375274.1XP_054231249.1  fibulin-5 isoform X1

      UniProtKB/TrEMBL
      A0A9L9PY85