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Fbln5 fibulin 5 [ Mus musculus (house mouse) ]

Gene ID: 23876, updated on 5-Mar-2024

Summary

Official Symbol
Fbln5provided by MGI
Official Full Name
fibulin 5provided by MGI
Primary source
MGI:MGI:1346091
See related
Ensembl:ENSMUSG00000021186 AllianceGenome:MGI:1346091
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
A55; EVEC; DANCE
Summary
Enables integrin binding activity. Involved in several processes, including elastic fiber assembly; intramembranous bone growth; and regulation of transcription by RNA polymerase II. Acts upstream of or within extracellular matrix organization. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix and elastic fiber. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; embryo mesenchyme; and skeleton. Used to study cutis laxa. Human ortholog(s) of this gene implicated in age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa. Orthologous to human FBLN5 (fibulin 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney adult (RPKM 44.5), bladder adult (RPKM 22.1) and 14 other tissues See more
Orthologs
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Genomic context

See Fbln5 in Genome Data Viewer
Location:
12 E; 12 51.29 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (101712820..101785541, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (101746565..101819119, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene cation channel sperm associated auxiliary subunit beta Neighboring gene STARR-seq mESC enhancer starr_33086 Neighboring gene predicted gene, 52022 Neighboring gene tandem C2 domains, nuclear Neighboring gene STARR-seq mESC enhancer starr_33088 Neighboring gene STARR-seq mESC enhancer starr_33091 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene STARR-positive B cell enhancer ABC_E1452 Neighboring gene predicted gene, 20036 Neighboring gene ataxin 3

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
fibulin-5
Names
FIBL-5
developmental arteries and neural crest EGF-like protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001361987.2NP_001348916.1  fibulin-5 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
    Consensus CDS
    CCDS88391.1
    UniProtKB/TrEMBL
    A0A1Y7VJW9
    Related
    ENSMUSP00000152680.2, ENSMUST00000222587.2
    Conserved Domains (4) summary
    smart00179
    Location:220258
    EGF_CA; Calcium-binding EGF-like domain
    pfam12662
    Location:200223
    cEGF; Complement Clr-like EGF-like
    pfam14670
    Location:271299
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:134178
    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_001413776.1NP_001400705.1  fibulin-5 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  3. NM_001413777.1NP_001400706.1  fibulin-5 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  4. NM_001413778.1NP_001400707.1  fibulin-5 isoform 5 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  5. NM_001413779.1NP_001400708.1  fibulin-5 isoform 6 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  6. NM_001413780.1NP_001400709.1  fibulin-5 isoform 7 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  7. NM_001413781.1NP_001400710.1  fibulin-5 isoform 8 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  8. NM_001413782.1NP_001400711.1  fibulin-5 isoform 9 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  9. NM_001413783.1NP_001400712.1  fibulin-5 isoform 10 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
  10. NM_001413784.1NP_001400713.1  fibulin-5 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122473
    UniProtKB/TrEMBL
    A0A1Y7VJW9
  11. NM_001413785.1NP_001400714.1  fibulin-5 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC122473
  12. NM_001413786.1NP_001400715.1  fibulin-5 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC122473
  13. NM_011812.5NP_035942.1  fibulin-5 isoform 2 precursor

    See identical proteins and their annotated locations for NP_035942.1

    Status: VALIDATED

    Source sequence(s)
    AC122473
    Consensus CDS
    CCDS36525.1
    UniProtKB/Swiss-Prot
    Q541Z7, Q9WVH9
    Related
    ENSMUSP00000021603.9, ENSMUST00000021603.9
    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 ...

RNA

  1. NR_182218.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC122473

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    101712820..101785541 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006515866.3XP_006515929.1  fibulin-5 isoform X2

    Conserved Domains (5) summary
    smart00179
    Location:206244
    EGF_CA; Calcium-binding EGF-like domain
    pfam07645
    Location:126159
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:186209
    cEGF; Complement Clr-like EGF-like
    pfam14670
    Location:257285
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:160203
    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 ...