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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FSD1 Gene

protein-coding   GIFtS: 51
GCID: GC19P004304

Fibronectin Type III And SPRY Domain Containing 1

(Previous name: fibronectin type 3 and SPRY domain containing 1)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fibronectin Type III And SPRY Domain Containing 11 2     MID1-Related Protein 12 3
GLFND2 3 5     Fibronectin Type 3 And SPRY (Spla, Ryanodine) Domain Containing (With
Coiled-Coil Motif) 12
Fibronectin Type 3 And SPRY Domain Containing 11 2     Fibronectin Type III And SPRY Domain-Containing Protein 12
Microtubule-Associated Protein GLFND2 3     Midline 1-Related Protein 12
MIR12 3     

External Ids:    HGNC: 137451   Entrez Gene: 791872   Ensembl: ENSG000001052557   OMIM: 6098285   UniProtKB: Q9BTV53   

Export aliases for FSD1 gene to outside databases

Previous GC identifers: GC19P004397 GC19P004244 GC19P004255 GC19P004068


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with FSD1 include cerebritis. An important paralog of this gene is TRIM13.

UniProtKB/Swiss-Prot: FSD1_HUMAN, Q9BTV5
Function: May be involved in microtubule organization and stabilization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FSD1 gene promoter:
         Elk-1   RFX1   CUTL1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Tal-1beta   POU3F2   c-Ets-1   GATA-2   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFSD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FSD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FSD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

FSD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FSD1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P004304:  view genomic region     (about GC identifiers)

Start:
4,304,591 bp from pter      End:
4,323,843 bp from pter
Size:
19,253 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FSD1_HUMAN, Q9BTV5 (See protein sequence)
Recommended Name: Fibronectin type III and SPRY domain-containing protein 1  
Size: 496 amino acids; 55820 Da
Subunit: Oligomerization is required for binding to microtubules
Subcellular location: 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
Secondary accessions: B2RDT0 Q9BXN0 Q9HAG4

Explore the universe of human proteins at neXtProt for FSD1: NX_Q9BTV5

Explore proteomics data for FSD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BTV5

  • FSD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FSD1 Protein Expression
    REFSEQ proteins: NP_077309.1  
    ENSEMBL proteins: 
     ENSP00000221856   ENSP00000473022   ENSP00000472060   ENSP00000472521   ENSP00000469629  

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    Cloud-Clone Corp. Proteins for FSD1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005815microtubule organizing center IEA--
    GO:0005874microtubule IEA--

    FSD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing

    5/7 InterPro protein domains (see all 7):
     IPR001870 B30.2/SPRY
     IPR017903 COS_domain
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003649 Bbox_C

    Graphical View of Domain Structure for InterPro Entry Q9BTV5

    ProtoNet protein and cluster: Q9BTV5

    UniProtKB/Swiss-Prot: FSD1_HUMAN, Q9BTV5
    Domain: B30.2 box contains a microtubule-binding site
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 COS domain
    Similarity: Contains 1 fibronectin type-III domain


    FSD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FSD1_HUMAN, Q9BTV5
    Function: May be involved in microtubule organization and stabilization

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    FSD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FSD1:
     Synthetic lethal with c-Myc af 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FSD1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for FSD1 (Q9BTV52, 3 ENSP000002218564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NAP1L1P552092, 3, ENSP000002611824MINT-63875 I2D: score=4 STRING: ENSP00000261182
    PPP1R16AQ96I342, 3MINT-65188 I2D: score=5 
    CDK5Q005353, ENSP000002975184I2D: score=1 STRING: ENSP00000297518
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007067mitosis IEA--
    GO:0051301cell division IEA--

    FSD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FSD1

    Search CenterWatch for drugs/clinical trials and news about FSD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FSD1 gene: 
    NM_024333.2  

    Unigene Cluster for FSD1:

    Fibronectin type III and SPRY domain containing 1
    Hs.28144  [show with all ESTs]
    Unigene Representative Sequence: NM_024333
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221856(uc010xie.2 uc010xif.2 uc002lzy.2 uc002maa.2)
    ENST00000599375 ENST00000601678 ENST00000597590 ENST00000601006 ENST00000601815
    ENST00000597480 ENST00000598010 ENST00000598179 ENST00000594438
    miRNA
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    Additional mRNA sequence: 

    AF316829.1 AK021750.1 AK295523.1 AK303606.1 AK315661.1 AY032617.1 BC003124.1 BC016442.1 

    7 DOTS entries:

    DT.441105  DT.95273524  DT.100648713  DT.121502386  DT.40302148  DT.91756148  DT.99988541 

    24/146 AceView cDNA sequences (see all 146):

    BE741433 CR610791 BM559641 BC016442 BF513717 NM_024333 CR599769 BF526205 
    BC003124 CR602397 CR622875 CB153084 CR611611 BG913686 BE255498 BI755769 
    CR623547 BM683389 BP364720 BM916517 BQ890482 BM561105 CR622179 BM916228 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FSD1    About this scheme

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


    ECgene alternative splicing isoforms for FSD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FSD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCGCCTGG
    FSD1 Expression
    About this image


    See FSD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FSD1

    SOURCE GeneReport for Unigene cluster: Hs.28144

    UniProtKB/Swiss-Prot: FSD1_HUMAN, Q9BTV5
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FSD1 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fsd11 , 5 fibronectin type 3 and SPRY domain-containing protein1, 5 86.83(n)1
    93.15(a)1
      17 (29.10 cM)5
    2401211  NM_183178.21  NP_899001.11 
     559865115 
    chicken
    (Gallus gallus)
    Aves FSD16
    fibronectin type III and SPRY domain containing 1
    89(a)
    1 ↔ 1
    AADN03014104.1(247-1378)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.165762 Transcribed sequence with weak similarity to protein more 76.39(n)    BI476785.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Trim96
    Trim9
    11(a)
    1 → many
    2L(10544881-10627374)
    worm
    (Caenorhabditis elegans)
    Secernentea trim-96
    Protein TRIM-9, isoform b
    11(a)
    1 → many
    V(1223897-1235445)


    ENSEMBL Gene Tree for FSD1 (if available)
    TreeFam Gene Tree for FSD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FSD1 gene
    TRIM132  ENSG000002487102  FSD1L2  TRIM462  TRIM632  TRIM592  TRIM92  TRIM672  
    TRIM362  TRIM552  MID12  MID22  TRIM542  
    2 SIMAP similar genes for FSD1 using alignment to 5 protein entries:     FSD1_HUMAN (see all proteins):
    FSD1L    MID1

    FSD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/541 SNPs in FSD1 are shown (see all 541)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116719161,2
    C,F,A,H--4304498(+) CCACCA/GACACC 1 -- us2k126Minor allele frequency- G:0.50NS EA NA WA CSA 2710
    rs116675221,2
    C,F,A,H--4304540(+) GCTCTG/CGGCGA 1 -- us2k17Minor allele frequency- C:0.45NA CSA WA EA 366
    rs175234361,2
    C,F--4304774(+) GTGGGA/GCAGGG 1 -- int13Minor allele frequency- G:0.40NA CSA 5
    rs621292991,2
    C,F--4304855(+) CCTCCG/ACCCCA 1 -- int13Minor allele frequency- A:0.33NA WA 6
    rs129792731,2
    H--4305015(+) CATCCC/TTGACC 1 -- int14Minor allele frequency- T:0.00NS EA 416
    rs1838537051,2
    --4305256(+) GCCCCC/GGCATC 1 -- int10--------
    rs1435432911,2
    --4305643(+) GTGAAC/TTGTAT 1 -- int10--------
    rs1893056471,2
    --4305659(+) CGGAGA/CTTTAC 1 -- int10--------
    rs1480121391,2
    --4305780(+) CCTGCC/TGTGTG 1 -- int10--------
    rs593280251,2
    C,F--4305790(+) GTGTGT/CGCGCA 1 -- int14Minor allele frequency- C:0.23WA CSA NA 244

    HapMap Linkage Disequilibrium report for FSD1 (4304591 - 4323843 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for FSD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1106527CNV Insertion17803354
    dgv3675n71CNV Loss21882294
    dgv3674n71CNV Loss21882294
    nsv833717CNV Loss17160897
    nsv833718CNV Loss17160897
    nsv910817CNV Loss21882294
    nsv458328CNV Gain19166990
    nsv910820CNV Gain21882294
    nsv910824CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609828    OMIM disorders: --

    2 diseases for FSD1:    About MalaCards
    cerebritis    


    FSD1 for disorders           About GeneDecksing


    Export disorders for FSD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FSD1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FSD1)
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    1. Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. (PubMed id 11267680)1, 2, 3 Carim-Todd L.... Sumoy L. (2001)
    2. A novel centrosome-associated protein with affinity for microtubules. (PubMed id 12154070)1, 2, 9 Stein P.A....Rapoport T.A. (2002)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Identification of a novel microtubule-associated protein that regulates microtubule organization and cytokinesis by using a GFP- screening strategy. (PubMed id 12445389)1, 2 Manabe R.... Horwitz A.R. (2002)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79187 HGNC: 13745 AceView: FSD1 Ensembl:ENSG00000105255 euGenes: HUgn79187
    ECgene: FSD1 H-InvDB: FSD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FSD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FSD1 gene:
    Search GeneIP for patents involving FSD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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