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FBLN5 fibulin 5 [ Homo sapiens (human) ]

Gene ID: 10516, updated on 12-Aug-2018

Summary

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]
Expression
Broad expression in gall bladder (RPKM 67.7), spleen (RPKM 57.2) and 24 other tissues See more
Orthologs

Genomic context

See FBLN5 in Genome Data Viewer
Location:
14q32.12
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 repeat instability region 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90059

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix constituent conferring elasticity HDA PubMed 
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 

General protein information

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

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_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
    ENSP00000345008.4, OTTHUMP00000245161, ENST00000342058.8, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017020929.2XP_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 ...
  2. XM_011536358.2XP_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 ...
  3. XM_011536357.2XP_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 ...
  4. XM_005267267.3XP_005267324.1  fibulin-5 isoform X2

    See identical proteins and their annotated locations for XP_005267324.1

    Related
    ENSP00000451982.1, OTTHUMP00000245162, ENST00000556154.5, 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 ...
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