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Aliases for SPG11 Gene

Aliases for SPG11 Gene

  • Spastic Paraplegia 11 (Autosomal Recessive) 2 3 5
  • KIAA1840 2 3 4
  • Colorectal Carcinoma-Associated Protein 3 4
  • Spastic Paraplegia 11 Protein 3 4
  • Spatacsin 2 3
  • CMT2X 3
  • ALS5 3

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 Amyotrophic Lateral Sclerosis 5, Juvenile.

UniProtKB/Swiss-Prot for SPG11 Gene

  • May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.

Gene Wiki entry for SPG11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPG11 Gene

Genomics for SPG11 Gene

Regulatory Elements for SPG11 Gene

Enhancers for SPG11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F045047 1.6 FANTOM5 Ensembl ENCODE 9.1 -385.3 -385252 2.6 PKNOX1 ATF1 ARNT CREB3L1 ELK1 GATA2 NCOA1 TBX21 SMARCB1 MBD2 SORD EIF3J-AS1 HNRNPMP1 SPG11 SPATA5L1 B2M ENSG00000252171 LOC100422669 GC15M045048
GH15F044705 1.5 FANTOM5 ENCODE 8.1 -47.8 -47790 11.6 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 CBX5 EIF3J-AS1 HNRNPMP1 TRIM69 BLOC1S6 CTDSPL2 B2M MFAP1 PATL2 SPG11 CASC4
GH15F044661 1.6 FANTOM5 ENCODE 6 -1.0 -977 6.0 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 B2M EIF3J-AS1 MFAP1 HNRNPMP1 TRIM69 ENSG00000249839 SPG11 CATSPER2 PATL2 CTDSPL2
GH15F044723 1.5 FANTOM5 ENCODE 4.3 -64.2 -64244 9.7 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TRIM69 HNRNPMP1 EIF3J-AS1 BLOC1S6 MFAP1 B2M PATL2 SPG11 LOC100419583 GC15M044672
GH15F044674 1.1 FANTOM5 Ensembl ENCODE 2.1 -13.8 -13768 6.6 PKNOX1 POLR2A ZMYM3 NFE2 REST EMSY PATL2 B2M SPG11 CTDSPL2 GC15M044698 ENSG00000206957
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPG11 on UCSC Golden Path with GeneCards custom track

Promoters for SPG11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020796 678 2001 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for SPG11 Gene

Chromosome:
15
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

Genes around SPG11 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for SPG11 Gene

  • Ubiquitination at Lys 311, Lys 326, Lys 550, Lys 819, Lys 844, Lys 1117, Lys 1417, Lys 1577, Lys 1706, Lys 1724, Lys 1746, Lys 1845, Lys 1853, Lys 2208, and Lys 2368
  • Glycosylation at Asn 612 and Asn 1046
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPG11 Gene

Domains & Families 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

Molecular function for SPG11 Gene

UniProtKB/Swiss-Prot Function:
May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.

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

Human Phenotype Ontology for SPG11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SPG11 Gene

miRTarBase miRNAs that target SPG11

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SPG11 Gene

Localization for SPG11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPG11 Gene

Cytoplasm, cytosol. Nucleus. Cell projection, axon. Cell projection, dendrite. Note=Mainly cytoplasmic. {ECO:0000269 PubMed:17322883}.

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 SPG11 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
lysosome 5
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for SPG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA 21545838
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with SPG11: view

Pathways & Interactions for SPG11 Gene

SuperPathways for SPG11 Gene

No Data Available

Interacting Proteins for SPG11 Gene

Gene Ontology (GO) - Biological Process for SPG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007040 lysosome organization IEA --
GO:0007268 chemical synaptic transmission IMP 24794856
GO:0008088 axo-dendritic transport IMP 24794856
GO:0048489 synaptic vesicle transport IMP 24794856
GO:0048675 axon extension IEA --
genes like me logo Genes that share ontologies with SPG11: view

No data available for Pathways by source and SIGNOR curated interactions for SPG11 Gene

Transcripts for SPG11 Gene

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE for SPG11 Gene

Protein differential expression in normal tissues from HIPED for SPG11 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (22.2), Peripheral blood mononuclear cells (15.6), Kidney (8.3), and Blymphocyte (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPG11 Gene



NURSA nuclear receptor signaling pathways regulating expression of SPG11 Gene:

SPG11

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. Expressed in cortical projection neurons.
genes like me logo Genes that share expression patterns with SPG11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPG11 34 35
  • 88.29 (n)
cow
(Bos Taurus)
Mammalia SPG11 34 35
  • 86.58 (n)
mouse
(Mus musculus)
Mammalia Spg11 34 16 35
  • 80.55 (n)
rat
(Rattus norvegicus)
Mammalia Spg11 34
  • 80.35 (n)
oppossum
(Monodelphis domestica)
Mammalia SPG11 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves SPG11 34 35
  • 65.59 (n)
lizard
(Anolis carolinensis)
Reptilia SPG11 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75755 34
zebrafish
(Danio rerio)
Actinopterygii spg11 34 35
  • 51.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13531 35
  • 20 (a)
OneToOne
Species where no ortholog for SPG11 was found in the sources mined by GeneCards:
  • 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
VAR_058417 Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
rs118203963 Pathogenic 44,573,652(-) GCAAA(C/G/T)GAGCC intron-variant, reference, missense, stop-gained
rs141848292 Pathogenic 44,584,057(+) CTCCT(A/G)CTCTT downstream-variant-500B, reference, stop-gained
rs147713329 Pathogenic 44,573,661(+) GCATC(A/C/G/T)GTCAG intron-variant, reference, synonymous-codon, missense, stop-gained
rs149003934 Pathogenic 44,573,595(+) TGCCA(C/T)GAGTT intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1138363 CNV deletion 24896259
nsv1516 CNV deletion 18451855
nsv1517 CNV insertion 18451855
nsv827313 CNV loss 20364138

Variation tolerance for SPG11 Gene

Residual Variation Intolerance Score: 3.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.43; 97.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPG11 Gene

Human Gene Mutation Database (HGMD)
SPG11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPG11

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

Disorders for SPG11 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SPG11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 11, autosomal recessive
  • autosomal recessive spastic paraplegia type 11
amyotrophic lateral sclerosis 5, juvenile
  • als5
spastic paraplegia 11
  • autosomal recessive spastic paraplegia type 11
amyotrophic lateral sclerosis type 5
  • als5
als5-related amyotrophic lateral sclerosis
  • als5
- elite association - COSMIC cancer census association via MalaCards
Search SPG11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPTCS_HUMAN
  • Amyotrophic lateral sclerosis 5, juvenile (ALS5) [MIM:602099]: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25. {ECO:0000269 PubMed:20110243}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2X (CMT2X) [MIM:616668]: An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement. {ECO:0000269 PubMed:26556829}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:18079167, ECO:0000269 PubMed:19105190}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPG11

Genetic Association Database (GAD)
SPG11
Human Genome Epidemiology (HuGE) Navigator
SPG11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPG11
genes like me logo Genes that share disorders with SPG11: view

No data available for Genatlas for SPG11 Gene

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 64
  2. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. (PMID: 26556829) Montecchiani C. … Orlacchio A. (Brain 2015) 3 4 64
  3. Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. (PMID: 24794856) PAcrez-BrangulA- F. … Winner B. (Hum. Mol. Genet. 2014) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. (PMID: 20613862) Slabicki M. … Buchholz F. (PLoS Biol. 2010) 3 4 64

Products for SPG11 Gene

Sources for SPG11 Gene

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