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SPG11 Gene(Protein Coding)

Spastic Paraplegia 11 (Autosomal Recessive)

GCID:
GC15M044562
GIFtS:
54
Genes Participants
UDN Logo

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
  • 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 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

Products:

  1. Regulatory Element

Regulatory Elements for SPG11 Gene

Enhancers for SPG11 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SPG11 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SPG11 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for SPG11 Gene

Proteins for SPG11 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SPG11 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for SPG11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SPG11

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

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Phenotypes for SPG11 Gene

GenomeRNAi human phenotypes for SPG11:
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 Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
extracellular 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
cytosol 4
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 21545838
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 & Interactions for SPG11 Gene

SuperPathways for SPG11 Gene

PathCards logoMore details on SuperPathways for SPG11
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

None

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

Drugs & Compounds for SPG11 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SPG11 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for SPG11 Gene

(6) REFSEQ mRNAs :
(239) Selected AceView cDNA sequences:
(25) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

Products:

  1. Primer

mRNA expression in normal human tissues for SPG11 Gene

mRNA expression in normal human tissues for SPG11 Gene
mRNA expression by BioGPS for SPG11 GenemRNA expression by GTEx 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, 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 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
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
rat
(Rattus norvegicus)
 Mammalia Spg11 35
  • 80.35 (n)
  • 76.25 (a)
oppossum
(Monodelphis domestica)
 Mammalia SPG11 36
  • 73 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 55 (a)
 OneToMany
-- 36
  • 65 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia SPG11 36
  • 99 (a)
 OneToOne
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
rs3759875 - 44,651,760(+) CATTA(C/G/T)ATTGC nc-transcript-variant, reference, missense
rs3759871 - 44,651,559(+) GGGAA(A/G)AACAC nc-transcript-variant, reference, missense
VAR_058417 Spastic paraplegia 11, autosomal recessive (SPG11)
rs15896 -- 44,583,958(-) CAGAT(G/T)TCGCC reference, missense
rs5016199 -- 44,585,933(+) GGGGA(A/G)AATAT 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

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

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

Disorders for SPG11 Gene

MalaCards: The human disease database

(12) 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
spastic paraplegia 11
  • spastic paraplegia 11, autosomal recessive
amyotrophic lateral sclerosis 5, juvenile
  • als5
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
  • 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.

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 67
  2. 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
  3. SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. (PMID: 25769290) Hooper A.J. … Burnett J.R. (Clin. Chim. Acta 2015) 3
  4. Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes. (PMID: 26003865) Li Y.S. … Xu Y.M. (J Clin Neurosci 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SPG11 Gene

Sources for SPG11 Gene

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