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

SPG11 Gene

protein-coding   GIFtS: 53
GCID: GC15M044854

Spastic Paraplegia 11 (Autosomal Recessive)

(Previous name: KIAA1840)
(Previous symbol: KIAA1840)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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
Spastic Paraplegia 11 (Autosomal Recessive)1 2
KIAA18401 2 3 5
spatacsin1 2
Colorectal Carcinoma-Associated Protein2 3
Spastic Paraplegia 11 Protein2 3
FLJ214395

External Ids:    HGNC: 112261   Entrez Gene: 802082   Ensembl: ENSG000001041337   OMIM: 6108445   UniProtKB: Q96JI73   

Export aliases for SPG11 gene to outside databases

Previous GC identifers: GC15U990075 GC15M042644 GC15M021678


(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 SPG11 Gene:
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage.
Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, May 2009)

GeneCards Summary for SPG11 Gene: 
SPG11 (spastic paraplegia 11 (autosomal recessive)) is a protein-coding gene. Diseases associated with SPG11 include spastic paraplegia type 11, and spasticity. GO annotations related to this gene include protein binding.

Gene Wiki entry for SPG11 Gene


(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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPG11 gene promoter:
         RFX1   USF-1   Nkx2-2   NCX/Ncx   c-Myb   Pax-4a   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPG11 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPG11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPG11


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q13-q15

SPG11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPG11 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M044854:  view genomic region     (about GC identifiers)

Start:
44,854,894 bp from pter      End:
44,955,876 bp from pter
Size:
100,983 bases      Orientation:
minus 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: SPTCS_HUMAN, Q96JI7 (See protein sequence)
Recommended Name: Spatacsin  
Size: 2443 amino acids; 278868 Da
Subunit: Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26
Subcellular location: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytosol. Nucleus. Note=Mainly
cytoplasmic
Sequence caution: Sequence=AAH24161.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAX54692.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15065.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC03600.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: A8KAX9 B9EK60 F5H3N6 Q4VC11 Q58G86 Q69YG6 Q6NW01 Q8N270 Q8TBU9 Q9H734
Alternative splicing: 3 isoforms:  Q96JI7-1   Q96JI7-2   Q96JI7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPG11: NX_Q96JI7

Explore proteomics data for SPG11 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96JI7

  • SPG11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPG11 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001153699.1  NP_079413.3  

    ENSEMBL proteins: 
     ENSP00000261866   ENSP00000453246   ENSP00000445278   ENSP00000396110   ENSP00000453314  
     ENSP00000453599   ENSP00000452744   ENSP00000452991   ENSP00000453238   ENSP00000453921  
     ENSP00000453490   ENSP00000452629   ENSP00000453848   ENSP00000453227  

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    Cloud-Clone Corp. Proteins for SPG11 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IDA--

    SPG11 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

    ProtoNet protein and cluster: Q96JI7


    (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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    SPG11 for ontologies           About GeneDecksing


    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 SPG11

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for SPG11 (Q96JI73 ENSP000002618664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKBIAP259633I2D: score=2 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--

    SPG11 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 SPG11 (SPTCS)

    Search CenterWatch for drugs/clinical trials and news about SPG11 / SPTCS

    (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 SPG11 gene (2 alternative transcripts): 
    NM_001160227.1  NM_025137.3  

    Unigene Clusters for SPG11:

    Spastic paraplegia 11 (autosomal recessive)
    Hs.656271  [show with all ESTs], Hs.683876
    Unigene Representative Sequences: NM_025137, AK094331
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000261866(uc010bdw.3 uc001ztx.3 uc010ueh.2 uc010uei.2)
    ENST00000559511 ENST00000535302 ENST00000427534 ENST00000560299 ENST00000558138
    ENST00000559347 ENST00000561268 ENST00000559933 ENST00000558319(uc001zty.1)
    ENST00000558080 ENST00000559822 ENST00000558790 ENST00000558253 ENST00000560858
    ENST00000558155 ENST00000561391 ENST00000558561

    miRNA
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    hsa-miR-576-5p hsa-miR-495 hsa-miR-4328 hsa-miR-7-2* hsa-miR-4263 hsa-miR-138-2* hsa-miR-1205 hsa-miR-544b
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    Inhib. RNA
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    Additional mRNA sequence: AK094331.1 

    24/27 DOTS entries (see all 27):

    DT.442936  DT.100059258  DT.92451726  DT.95356622  DT.65285088  DT.121643100  DT.95276024  DT.423800 
    DT.91745523  DT.95337998  DT.100673143  DT.121066257  DT.121066270  DT.121066341  DT.121066343  DT.70101879 
    DT.95283891  DT.100662805  DT.100838644  DT.102731  DT.121066353  DT.91668277  DT.121066345  DT.218090 

    24/239 AceView cDNA sequences (see all 239):

    BQ012317 AA479483 AA780070 BE712916 NM_025137 AI420177 AL834168 BM763186 
    BM974426 CA773503 AA479486 BI856119 AV725407 AA074105 AB058743 BU676373 
    AU185784 BX478745 N73660 BP871968 BQ003947 CD722963 BQ016480 AI686317 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for SPG11 (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                    -           -                           

    ExUns: 24b ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c · 27d ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b · 34c · 34d ^ 35 ^ 36 ^ 37a · 37b · 37c · 37d ^ 38 ^ 39a ·
    SP1:                                                                                                                                                            
    SP2:              -                             -                 -           -                                               -                                 
    SP3:                                                                                                                          -                 -               
    SP4:                                                                                                                    -     -     -     -     -     -         
    SP5:                                                                                                                                                            

    ExUns: 39b ^ 40 ^ 41a · 41b ^ 42 ^ 43 ^ 44 ^ 45
    SP1:                                                
    SP2:                                                
    SP3:                    -                           
    SP4:                    -                           
    SP5:                                                


    ECgene alternative splicing isoforms for SPG11

    (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

    SPG11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAGCAGGTT
    SPG11 Expression
    About this image


    See SPG11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPG11

    SOURCE GeneReport for Unigene clusters: Hs.656271 Hs.683876

    UniProtKB/Swiss-Prot: SPTCS_HUMAN, Q96JI7
    Tissue specificity: Expressed in all structures of brain, with a high expression in cerebellum

        SABiosciences Custom PCR Arrays for SPG11
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    In Situ
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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 SPG11 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spg111 , 5 spastic paraplegia 111, 5 80.55(n)1
    76.99(a)1
      2 (60.50 cM)5
    2145851  NM_145531.21  NP_663506.21 
     1220535205 
    chicken
    (Gallus gallus)
    Aves SPG111 spastic paraplegia 11 (autosomal recessive) 67.24(n)
    62.06(a)
      415572  XM_003641831.1  XP_003641879.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPG116
    Uncharacterized protein
    53(a)
    1 ↔ 1
    GL343642.1(279110-330853)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757552 hypothetical protein MGC75755 70.56(n)    BC061290.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spg111 spastic paraplegia 11 51.05(n)
    43.79(a)
      793551  NM_001194994.1  NP_001181923.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG135316
    --
    19(a)
    1 ↔ 1
    2R(18735355-18741220)


    ENSEMBL Gene Tree for SPG11 (if available)
    TreeFam Gene Tree for SPG11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/2420 SNPs in SPG11 are shown (see all 2420)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0584174
    Spastic paraplegia 11, autosomal recessive (SPG11)4--see VAR_0584172 F I mis40--------
    rs360141111,2
    C,F,Hnon-pathogenic124967336(+) GATGGC/TAGGAC 4 L syn110Minor allele frequency- T:0.04NA NS EU 6749
    rs37598711,2,4
    C,F,A,Hnon-pathogenic125010419(+) GGGAAA/GAACAC 4 S F mis1 trp332Minor allele frequency- N:0.00EA NA NS WA CSA EU 8859
    rs803388681,2
    C,Fnon-pathogenic125016016(-) TCGATG/ATTGCA 4 /I /V mis12Minor allele frequency- A:0.01NA EU 5869
    rs2000798021,2
    Cpathogenic124922162(+) TATATC/GTAGAT 2 -- spa10--------
    rs803388691,2
    C,Fpathogenic124923535(-) GCCTAA/C/TGATTT 6 * Y stg1 syn13NA EU 5689
    rs1490039341,2
    Cpathogenic124932455(+) TGCCAC/TGAGTT 3 M V mis1 int11Minor allele frequency- T:0.00NA 4552
    rs1182039631,2
    Cpathogenic124932512(-) GCAAAC/TGAGCC 3 R * stg1 int10--------
    rs1477133291,2
    Cpathogenic124932521(+) GCATCA/C/GGTCAG 3 R * stg1 int11NA 4552
    rs3122627751,2
    Cpathogenic124933781(-) CCTCT-/CTCT/T
            
    GTCTG
    4 C SLS LS fra1 int10--------

    HapMap Linkage Disequilibrium report for SPG11 (44854894 - 44955876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SPG11:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1517CNV Insertion18451855
    nsv1516CNV Loss18451855
    nsv827313CNV Loss20364138


    Human Gene Mutation Database (HGMD): SPG11
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPG11
    DNA2.0 Custom Variant and Variant Library Synthesis for SPG11

    (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: 610844   
    OMIM disorders: 604360  
    UniProtKB/Swiss-Prot: SPTCS_HUMAN, Q96JI7
  • Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 12 diseases for SPG11:    About MalaCards
    spastic paraplegia type 11    spasticity    paraplegia    hereditary spastic paraplegia
    spastic paraparesis    optic atrophy    retinal degeneration    intellectual disability
    amyotrophic lateral sclerosis    lateral sclerosis    retinitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SPG11:
    Paraplegia

    SPG11 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    GeneTests: SPG11
    GeneReviews: SPG11
    Genetic Association Database (GAD): SPG11
    Human Genome Epidemiology (HuGE) Navigator: SPG11 (1 document)

    Export disorders for SPG11 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)
    About This Section

    PubMed articles for SPG11 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with SPG11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (PubMed id 17322883)1, 2, 3 Stevanin G....Brice A. (2007)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. (PubMed id 19105190)1, 2 Denora P.S.... Santorelli F.M. (2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    6. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. (PubMed id 10408536)1, 3 Martinez Murillo F....Hoffman E.P. (1999)
    7. Novel SPG11 mutations in Chinese families with heredit ary spastic paraplegia with thin corpus callosum. (PubMed id 23121729)1 Cao L....Chen S.D. (2013)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. White and grey matter abnormalities in patients with S PG11 mutations. (PubMed id 22696581)1 Franca M.C....Lopes-Cendes I. (2012)
    10. Exome sequencing reveals SPG11 mutations causing juven ile ALS. (PubMed id 22154821)1 Daoud H....Rouleau G.A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80208 HGNC: 11226 AceView: FLJ21439 Ensembl:ENSG00000104133 euGenes: HUgn80208
    ECgene: SPG11 H-InvDB: SPG11

    (According to HUGE)
    About This Section
    HUGE: KIAA1840

    (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 SPG11 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPG11

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPG11 gene:
    Search GeneIP for patents involving SPG11

    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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