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Aliases for SPG11 Gene

Aliases for SPG11 Gene

  • Spastic Paraplegia 11 (Autosomal Recessive) 2 3
  • KIAA1840 2 3 4 6
  • Colorectal Carcinoma-Associated Protein 3 4
  • Spastic Paraplegia 11 Protein 3 4
  • Spatacsin 2 3
  • FLJ21439 6

External Ids for SPG11 Gene

Previous HGNC Symbols for SPG11 Gene

  • KIAA1840

Previous GeneCards Identifiers for SPG11 Gene

  • GC15U990075
  • GC15M042644
  • GC15M044854
  • GC15M021678

Summaries for SPG11 Gene

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 11, autosomal recessive and spastic paraplegia 11.

Gene Wiki entry for SPG11 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPG11 Gene

Genomics for SPG11 Gene

Regulatory Elements for SPG11 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPG11 Gene

Start:
44,562,696 bp from pter
End:
44,663,678 bp from pter
Size:
100,983 bases
Orientation:
Minus strand

Genomic View for SPG11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPG11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPG11 Gene

Proteins for SPG11 Gene

  • Protein details for SPG11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JI7-SPTCS_HUMAN
    Recommended name:
    Spatacsin
    Protein Accession:
    Q96JI7
    Secondary Accessions:
    • A8KAX9
    • B9EK60
    • F5H3N6
    • Q4VC11
    • Q58G86
    • Q69YG6
    • Q6NW01
    • Q8N270
    • Q8TBU9
    • Q9H734

    Protein attributes for SPG11 Gene

    Size:
    2443 amino acids
    Molecular mass:
    278868 Da
    Quaternary structure:
    • Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.
    SequenceCaution:
    • Sequence=AAH24161.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAX54692.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03600.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPG11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPG11 Gene

Proteomics data for SPG11 Gene at MOPED

Post-translational modifications for SPG11 Gene

  • Ubiquitination at Lys311, Lys326, Lys550, Lys819, Lys844, Lys1117, Lys1417, Lys1577, Lys1706, Lys1724, Lys1746, Lys1845, Lys1853, Lys2208, and Lys2368
  • Glycosylation at Asn612 and Asn1046
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPG11 Gene

Domains for SPG11 Gene

Protein Domains for SPG11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPG11 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPG11: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SPG11 Gene

Function for SPG11 Gene

Gene Ontology (GO) - Molecular Function for SPG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20613862
genes like me logo Genes that share ontologies with SPG11: view

Animal Model Products

miRNA for SPG11 Gene

miRTarBase miRNAs that target SPG11

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SPG11 Gene

Localization for SPG11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPG11 Gene

Membrane; Multi-pass membrane protein. Cytoplasm, cytosol. Nucleus. Note=Mainly cytoplasmic.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPG11 Gene COMPARTMENTS Subcellular localization image for SPG11 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 4
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SPG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with SPG11: view

Pathways for SPG11 Gene

SuperPathways for SPG11 Gene

No Data Available

Interacting Proteins for SPG11 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261866%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000325414%0d%0a
Selected Interacting proteins: ENSP00000261866 Q96JI7-SPTCS_HUMAN for SPG11 Gene via STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for SPG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
genes like me logo Genes that share ontologies with SPG11: view

No data available for Pathways by source for SPG11 Gene

Transcripts for SPG11 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPG11

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SPG11
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPG11 Gene

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: - -
SP6:
SP7: -
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:

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:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12: -
SP13: - -
SP14:

ExUns: 39b ^ 40 ^ 41a · 41b ^ 42 ^ 43 ^ 44 ^ 45
SP1:
SP2:
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14:

Relevant External Links for SPG11 Gene

GeneLoc Exon Structure for
SPG11
ECgene alternative splicing isoforms for
SPG11

Expression for SPG11 Gene

mRNA expression in normal human tissues for SPG11 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPG11 Gene

SOURCE GeneReport for Unigene cluster for SPG11 Gene Hs.656271

mRNA Expression by UniProt/SwissProt for SPG11 Gene

Q96JI7-SPTCS_HUMAN
Tissue specificity: Expressed in all structures of brain, with a high expression in cerebellum.
genes like me logo Genes that share expressions with SPG11: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPG11 Gene

Orthologs for SPG11 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPG11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPG11 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPG11 35
  • 86.58 (n)
  • 83.46 (a)
SPG11 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPG11 35
  • 88.29 (n)
  • 85.54 (a)
SPG11 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spg11 35
  • 80.55 (n)
  • 76.99 (a)
Spg11 16
Spg11 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPG11 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spg11 35
  • 80.35 (n)
  • 76.25 (a)
chicken
(Gallus gallus)
Aves SPG11 35
  • 65.59 (n)
  • 59.64 (a)
SPG11 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPG11 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75755 35
zebrafish
(Danio rerio)
Actinopterygii spg11 35
  • 51.17 (n)
  • 43.77 (a)
spg11 36
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13531 36
  • 20 (a)
OneToOne
Species with no ortholog for SPG11:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for SPG11 Gene

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

Paralogs for SPG11 Gene

No data available for Paralogs for SPG11 Gene

Variants for SPG11 Gene

Sequence variations from dbSNP and Humsavar for SPG11 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs15896 -- 44,583,958(-) CAGAT(G/T)TCGCC reference, missense
rs1058877 -- 44,574,997(+) TTCAT(A/T)ACTGG intron-variant, reference, missense
rs1108020 -- 44,574,087(-) ggcag(C/T)ggttg intron-variant
rs1863755 -- 44,662,254(+) CTGAT(G/T)TATCA intron-variant
rs2277610 -- 44,570,732(+) AGGAG(A/G)GAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPG11 Gene

Variant ID Type Subtype PubMed ID
nsv827313 CNV Loss 20364138
nsv1516 CNV Loss 18451855
nsv1517 CNV Insertion 18451855

Relevant External Links for SPG11 Gene

HapMap Linkage Disequilibrium report
SPG11
Human Gene Mutation Database (HGMD)
SPG11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPG11 Gene

Disorders for SPG11 Gene

(1) OMIM Diseases for SPG11 Gene (610844)

UniProtKB/Swiss-Prot

SPTCS_HUMAN
  • 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. {ECO:0000269 PubMed:17322883, ECO:0000269 PubMed:19105190}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SPG11 Gene

Relevant External Links for SPG11

GeneTests
SPG11
GeneReviews
SPG11
Genetic Association Database (GAD)
SPG11
Human Genome Epidemiology (HuGE) Navigator
SPG11
genes like me logo Genes that share disorders with SPG11: view

Publications for SPG11 Gene

  1. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (PMID: 17322883) Stevanin G. … Brice A. (Nat. Genet. 2007) 2 3 4
  2. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. (PMID: 19105190) Denora P.S. … Santorelli F.M. (Hum. Mutat. 2009) 3 4
  3. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. (PMID: 10408536) MartA-nez Murillo F. … Hoffman E.P. (Neurology 1999) 2 3
  4. 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. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for SPG11 Gene

Sources for SPG11 Gene

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