This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytok... See more...

Aliases for FSD1 Gene

Aliases for FSD1 Gene

  • Fibronectin Type III And SPRY Domain Containing 1 2 3 5
  • MIR1 2 3 4
  • Fibronectin Type III And SPRY Domain-Containing Protein 1 3 4
  • Fibronectin Type 3 And SPRY Domain Containing 1 2 3
  • Microtubule-Associated Protein GLFND 3 4
  • MID1-Related Protein 1 3 4
  • GLFND 3 4
  • Fibronectin Type 3 And SPRY (Spla, Ryanodine) Domain Containing (With Coiled-Coil Motif) 1 3
  • Midline 1-Related Protein 1 3
  • MGC3213 2
  • FSD1 5

External Ids for FSD1 Gene

Previous GeneCards Identifiers for FSD1 Gene

  • GC19P004397
  • GC19P004244
  • GC19P004255
  • GC19P004068

Summaries for FSD1 Gene

Entrez Gene Summary for FSD1 Gene

  • This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]

GeneCards Summary for FSD1 Gene

FSD1 (Fibronectin Type III And SPRY Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is FSD1L.

UniProtKB/Swiss-Prot Summary for FSD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FSD1 Gene

Genomics for FSD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FSD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FSD1

Top Transcription factor binding sites by QIAGEN in the FSD1 gene promoter:
  • c-Ets-1
  • CUTL1
  • Elk-1
  • GATA-2
  • HOXA5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RFX1
  • Tal-1beta

Genomic Locations for FSD1 Gene

Genomic Locations for FSD1 Gene
chr19:4,304,594-4,323,846
(GRCh38/hg38)
Size:
19,253 bases
Orientation:
Plus strand
chr19:4,304,591-4,323,843
(GRCh37/hg19)
Size:
19,253 bases
Orientation:
Plus strand

Genomic View for FSD1 Gene

Genes around FSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSD1 Gene

Proteins for FSD1 Gene

  • Protein details for FSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTV5-FSD1_HUMAN
    Recommended name:
    Fibronectin type III and SPRY domain-containing protein 1
    Protein Accession:
    Q9BTV5
    Secondary Accessions:
    • B2RDT0
    • Q9BXN0
    • Q9HAG4

    Protein attributes for FSD1 Gene

    Size:
    496 amino acids
    Molecular mass:
    55820 Da
    Quaternary structure:
    • Oligomerization is required for binding to microtubules.

neXtProt entry for FSD1 Gene

Post-translational modifications for FSD1 Gene

  • Ubiquitination at Lys13
  • Modification sites at PhosphoSitePlus

Other Protein References for FSD1 Gene

No data available for DME Specific Peptides for FSD1 Gene

Domains & Families for FSD1 Gene

Gene Families for FSD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FSD1 Gene

GenScript: Design optimal peptide antigens:
  • Microtubule-associated protein GLFND (FSD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BTV5

UniProtKB/Swiss-Prot:

FSD1_HUMAN :
  • B30.2 box contains a microtubule-binding site.
Domain:
  • B30.2 box contains a microtubule-binding site.
genes like me logo Genes that share domains with FSD1: view

Function for FSD1 Gene

Molecular function for FSD1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in microtubule organization and stabilization.

Phenotypes From GWAS Catalog for FSD1 Gene

Gene Ontology (GO) - Molecular Function for FSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008017 microtubule binding IMP 12154070
GO:0042802 identical protein binding IPI 12154070
genes like me logo Genes that share ontologies with FSD1: view
genes like me logo Genes that share phenotypes with FSD1: view

Animal Model Products

CRISPR Products

miRNA for FSD1 Gene

miRTarBase miRNAs that target FSD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FSD1 Gene

Localization for FSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FSD1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm. Cleavage furrow. Note=Cell-cycle-dependent association with the centrosome. Colocalizes with a subpopulation of microtubules. Does not associates with microtubules during mitosis but reassociates with microtubules during cytokinesis. Localizes to the central portions of a small subset of microtubules in interphase cells and a subpopulation of microtubules in the cleavage furrow, not present in the mitotic spindle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FSD1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IMP 12154070
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FSD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FSD1 Gene

Pathways & Interactions for FSD1 Gene

PathCards logo

SuperPathways for FSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0031122 cytoplasmic microtubule organization IMP 12154070
GO:0032465 regulation of cytokinesis IDA 12445389
GO:0051301 cell division IEA --
GO:0051302 regulation of cell division IDA 12445389
genes like me logo Genes that share ontologies with FSD1: view

No data available for Pathways by source and SIGNOR curated interactions for FSD1 Gene

Drugs & Compounds for FSD1 Gene

No Compound Related Data Available

Transcripts for FSD1 Gene

mRNA/cDNA for FSD1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSD1

Alternative Splicing Database (ASD) splice patterns (SP) for FSD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b
SP1:
SP2: -
SP3: -

Relevant External Links for FSD1 Gene

GeneLoc Exon Structure for
FSD1

Expression for FSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FSD1 Gene

mRNA differential expression in normal tissues according to GTEx for FSD1 Gene

This gene is overexpressed in Brain - Cortex (x6.4), Brain - Frontal Cortex (BA9) (x5.4), Brain - Anterior cingulate cortex (BA24) (x4.6), Brain - Hippocampus (x4.4), Brain - Cerebellum (x4.1), and Brain - Cerebellar Hemisphere (x4.0).

Protein differential expression in normal tissues from HIPED for FSD1 Gene

This gene is overexpressed in Fetal Brain (33.2), Testis (15.9), and Frontal cortex (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FSD1 Gene



Protein tissue co-expression partners for FSD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSD1

SOURCE GeneReport for Unigene cluster for FSD1 Gene:

Hs.28144

mRNA Expression by UniProt/SwissProt for FSD1 Gene:

Q9BTV5-FSD1_HUMAN
Tissue specificity: Highly expressed in brain tissues, including cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Lower expression in spinal chord.

Evidence on tissue expression from TISSUES for FSD1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with FSD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FSD1 Gene

Orthologs for FSD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FSD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FSD1 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FSD1 30 31
  • 91.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FSD1 30 31
  • 91.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FSD1 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Fsd1 30 17 31
  • 86.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FSD1 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FSD1 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fsd1 30
  • 69.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii fsd1 30 31
  • 67.41 (n)
OneToOne
Dr.16576 30
Fruit Fly
(Drosophila melanogaster)
Insecta Trim9 31
  • 13 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea trim-9 31
  • 13 (a)
OneToMany
Species where no ortholog for FSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FSD1 Gene

ENSEMBL:
Gene Tree for FSD1 (if available)
TreeFam:
Gene Tree for FSD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FSD1: view image

Paralogs for FSD1 Gene

Paralogs for FSD1 Gene

(2) SIMAP similar genes for FSD1 Gene using alignment to 5 proteins:

  • FSD1_HUMAN
  • M0QY68_HUMAN
  • M0R1R0_HUMAN
  • M0R2F6_HUMAN
  • M0R366_HUMAN
genes like me logo Genes that share paralogs with FSD1: view

Variants for FSD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FSD1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
716697 Likely Benign: not provided 4,318,455(+) C/T SYNONYMOUS_VARIANT
725443 Likely Benign: not provided 4,318,336(+) C/T INTRON_VARIANT
736221 Benign: not provided 4,307,923(+) G/A SYNONYMOUS_VARIANT
773347 Benign: not provided 4,323,056(+) C/T SYNONYMOUS_VARIANT
777380 Benign: not provided 4,307,887(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FSD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FSD1 Gene

Variant ID Type Subtype PubMed ID
esv1106527 CNV insertion 17803354
nsv1119469 CNV insertion 24896259
nsv1144859 CNV deletion 24896259
nsv458328 CNV gain 19166990
nsv578442 CNV loss 21841781
nsv578443 CNV gain 21841781
nsv833717 CNV loss 17160897
nsv833718 CNV loss 17160897

Variation tolerance for FSD1 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSD1 Gene

Disorders for FSD1 Gene

No disorders were found for FSD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FSD1 Gene

Publications for FSD1 Gene

  1. A novel centrosome-associated protein with affinity for microtubules. (PMID: 12154070) Stein PA … Rapoport TA (Journal of cell science 2002) 3 4 23
  2. Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. (PMID: 11267680) Carim-Todd L … Sumoy L (Biochimica et biophysica acta 2001) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Identification of a novel microtubule-associated protein that regulates microtubule organization and cytokinesis by using a GFP-screening strategy. (PMID: 12445389) Manabe Ri … Horwitz AR (Current biology : CB 2002) 3 4
  5. MiR-1 inhibits prostate cancer PC3 cells proliferation through the Akt/mTOR signaling pathway by binding to c-Met. (PMID: 30551391) Gao S … Zhang Z (Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2019) 3

Products for FSD1 Gene

  • Signalway Proteins for FSD1

Sources for FSD1 Gene