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Aliases for SPAST Gene

Aliases for SPAST Gene

  • Spastin 2 3 3 5
  • Spastic Paraplegia 4 (Autosomal Dominant; Spastin) 2 3
  • Spastic Paraplegia 4 Protein 3 4
  • ADPSP 3 4
  • FSP2 3 4
  • SPG4 3 4
  • EC 3.6.1.3 61
  • EC 3.6.4.3 4
  • KIAA1083 4

External Ids for SPAST Gene

Previous HGNC Symbols for SPAST Gene

  • SPG4

Previous GeneCards Identifiers for SPAST Gene

  • GC02P032201
  • GC02P032142
  • GC02P032288

Summaries for SPAST Gene

Entrez Gene Summary for SPAST Gene

  • This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPAST Gene

SPAST (Spastin) is a Protein Coding gene. Diseases associated with SPAST include Spastic Paraplegia 4, Autosomal Dominant and Spastic Paraplegia 4. GO annotations related to this gene include microtubule binding and four-way junction helicase activity. An important paralog of this gene is FIGNL1.

UniProtKB/Swiss-Prot for SPAST Gene

  • ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated (PubMed:11809724, PubMed:15716377, PubMed:16219033, PubMed:17389232, PubMed:20530212, PubMed:22637577, PubMed:26875866). Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Severing activity is not dependent on tubulin acetylation or detyrosination (PubMed:26875866). Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex (PubMed:19000169, PubMed:21310966, PubMed:26040712). Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex (PubMed:21310966). Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling (PubMed:23897888). Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing (PubMed:23897888). Probably plays a role in axon growth and the formation of axonal branches (PubMed:15716377).

  • Isoform 1: Involved in lipid metabolism by regulating the size and distribution of lipid droplets.

Gene Wiki entry for SPAST Gene

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

Genomics for SPAST Gene

Regulatory Elements for SPAST Gene

Enhancers for SPAST 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
GH02F032277 0.5 ENCODE 10 +214.5 214497 2.0 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS SP3 NFYC BIRC6 TTC27 DDX50P1 RNU6-647P SLC30A6 SPAST NLRC4 YIPF4 ENSG00000272754
GH02F032061 0.6 ENCODE 0.8 +0.0 35 3.2 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 TTC27 DDX50P1 SLC30A6 ENSG00000272716 SPAST GC02M032061
GH02F032068 1 Ensembl ENCODE 0.4 +5.9 5875 1.1 HDGF PKNOX1 RFX1 ZBTB2 NR4A1 DPF2 ARID1B ZNF316 POLR2A SMARCA4 TTC27 BIRC6 SLC30A6 XDH SPAST GC02M032061
GH02F032072 0.5 ENCODE 0.4 +10.5 10453 2.4 ZNF316 MAFF HLF MAFG KDM1A EMSY MAFK DPY30 MEMO1 SLC30A6 ENSG00000272716 XDH SPAST GC02M032061
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SPAST on UCSC Golden Path with GeneCards custom track

Promoters for SPAST Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000012298 48 2801 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for SPAST Gene

Chromosome:
2
Start:
32,063,552 bp from pter
End:
32,157,637 bp from pter
Size:
94,086 bases
Orientation:
Plus strand

Genomic View for SPAST Gene

Genes around SPAST on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAST Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAST Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAST Gene

Proteins for SPAST Gene

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

    Protein Symbol:
    Q9UBP0-SPAST_HUMAN
    Recommended name:
    Spastin
    Protein Accession:
    Q9UBP0
    Secondary Accessions:
    • A7E2A7
    • Q9UPR9

    Protein attributes for SPAST Gene

    Size:
    616 amino acids
    Molecular mass:
    67197 Da
    Quaternary structure:
    • Homohexamer (PubMed:17389232, PubMed:22637577). Mostly monomeric, but assembles into hexameric structure for short periods of time. Oligomerization seems to be a prerequisite for catalytic activity (PubMed:17389232, PubMed:22637577). Binding to ATP in a cleft between two adjacent subunits stabilizes the homohexameric form (PubMed:17389232, PubMed:22637577). Binds to microtubules at least in part via the alpha-tubulin and beta-tubulin tails (PubMed:15269182, PubMed:15716377, PubMed:23272056). The hexamer adopts a ring conformation through which microtubules pass prior to being severed (PubMed:17389232, PubMed:22637577). Does not interact strongly with tubulin heterodimers (PubMed:15269182, PubMed:15716377, PubMed:23272056). Interacts (via MIT domain) with CHMP1B; the interaction is direct (PubMed:15537668, PubMed:18997780). Interacts with SSNA1 (PubMed:15269182). Interacts with ATL1 (PubMed:16339213, PubMed:16815977). Interacts with RTN1 (PubMed:16602018). Interacts with ZFYVE27 (PubMed:16826525, PubMed:23969831). Isoform 1 but not isoform 3 interacts with RTN2 (PubMed:22232211). Interacts with REEP1 (PubMed:20200447). Interacts (via MIT domain) with IST1 (PubMed:23897888, PubMed:26040712).

    Three dimensional structures from OCA and Proteopedia for SPAST Gene

    Alternative splice isoforms for SPAST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPAST Gene

Selected DME Specific Peptides for SPAST Gene

Q9UBP0:
  • LVMGATNRPQELD
  • LAKQALQEIVILP
  • GEKLVRALFAVA
  • QPSIIFIDE
  • RKKKDLKNFRNVDSNLAN
  • ALQEIVILPSLRPEL
  • IKRSVSPQTL
  • KRVYVSL
  • GYSGSDLTALAKDAAL
  • SNSLPRSK
  • ESNATFFNISAA
  • RPELFTGLR
  • RRLKTEFL
  • RTNKPSTPT
  • TDGYSGSDLTA
  • LPNEETRL
  • SAASLTSK
  • LSDFTESLKKIKRS
  • MAKDRLQLL
  • LTSKYVG
  • CRNGHLQSESGAVPK
  • LLFGPPGNGKT
  • QCERARRLQ
  • LQAKMMT
  • SPHKRNLYYFSYPL
  • FHKQAFEYIS

Post-translational modifications for SPAST Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SPAST Gene

Gene Families for SPAST Gene

Suggested Antigen Peptide Sequences for SPAST Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBP0

UniProtKB/Swiss-Prot:

SPAST_HUMAN :
  • Contains 1 MIT domain.
  • Belongs to the AAA ATPase family. Spastin subfamily.
Domain:
  • Contains 1 MIT domain.
Family:
  • Belongs to the AAA ATPase family. Spastin subfamily.
genes like me logo Genes that share domains with SPAST: view

Function for SPAST Gene

Molecular function for SPAST Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.45 mM for ATP {ECO:0000269 PubMed:15716377, ECO:0000269 PubMed:17389232, ECO:0000269 PubMed:22637577}; Vmax=1.2 nmol/min/ug enzyme {ECO:0000269 PubMed:15716377, ECO:0000269 PubMed:17389232, ECO:0000269 PubMed:22637577}; Note=Kinetic parameters shown are for full length enzyme. N- terminally truncated spastin (residues 228-616), which has been shown to exhibit full severing activity, shows a basal ATP turnover rate of 0.78 sec(-1) in the absence of microtubules, a KM of 0.16 mM for ATP, and the ATP turnover rate is extrapolated to 3.83 sec(-1) in the presence of microtubules. ATPase activity shows non-Michaelis-Menten kinetics in the presence of microtubules, but is close to non-cooperative behavior in their absence (PubMed:22637577). {ECO:0000269 PubMed:22637577};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosteric enzyme with a cooperative mechanism; at least two neighbor subunits influence each other strongly in spastin hexamers (PubMed:22637577). Microtubule binding promotes cooperative interactions among spastin subunits (PubMed:22637577). ATP-bound enzyme interacts strongly and cooperatively with microtubules; this interaction stimulates ATP hydrolysis (PubMed:23745751).
UniProtKB/Swiss-Prot Function:
ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated (PubMed:11809724, PubMed:15716377, PubMed:16219033, PubMed:17389232, PubMed:20530212, PubMed:22637577, PubMed:26875866). Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Severing activity is not dependent on tubulin acetylation or detyrosination (PubMed:26875866). Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex (PubMed:19000169, PubMed:21310966, PubMed:26040712). Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex (PubMed:21310966). Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling (PubMed:23897888). Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing (PubMed:23897888). Probably plays a role in axon growth and the formation of axonal branches (PubMed:15716377).
UniProtKB/Swiss-Prot Function:
Isoform 1: Involved in lipid metabolism by regulating the size and distribution of lipid droplets.

Enzyme Numbers (IUBMB) for SPAST Gene

Gene Ontology (GO) - Molecular Function for SPAST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 16815977
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IDA 15716377
GO:0008568 microtubule-severing ATPase activity IDA 15716377
genes like me logo Genes that share ontologies with SPAST: view
genes like me logo Genes that share phenotypes with SPAST: view

Human Phenotype Ontology for SPAST Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPAST Gene

MGI Knock Outs for SPAST:

Animal Model Products

miRNA for SPAST Gene

miRTarBase miRNAs that target SPAST

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SPAST Gene

Localization for SPAST Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAST Gene

Membrane; Peripheral membrane protein. Endoplasmic reticulum. Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Note=Forms a intramembrane hairpin-like structure in the membrane (PubMed:20200447). Localization to the centrosome is independent of microtubules (PubMed:15891913). Localizes to the midbody of dividing cells, and this requires CHMP1B (PubMed:18997780). Enriched in the distal axons and branches of postmitotic neurons (PubMed:15269182). {ECO:0000255 HAMAP-Rule:MF_03021, ECO:0000269 PubMed:15269182, ECO:0000269 PubMed:15891913, ECO:0000269 PubMed:18997780, ECO:0000305 PubMed:20200447}.
Isoform 1: Endoplasmic reticulum membrane; Peripheral membrane protein. Nucleus membrane. Lipid droplet. Cytoplasm, cytoskeleton. Endosome. Note=Forms a intramembrane hairpin-like structure in the membrane (PubMed:20200447). Recruited to nuclear membrane by IST1 during late anaphase (PubMed:26040712). Localizes to endoplasmic reticulum tubular network (PubMed:23969831). {ECO:0000269 PubMed:23969831, ECO:0000269 PubMed:26040712, ECO:0000305 PubMed:20200447}.
Isoform 3: Cytoplasm. Endosome. Nucleus membrane. Note=Constitutes the main endosomal form (PubMed:19000169). Recruited to nuclear membrane by IST1 during late anaphase (PubMed:26040712). {ECO:0000269 PubMed:19000169, ECO:0000269 PubMed:26040712}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPAST Gene COMPARTMENTS Subcellular localization image for SPAST gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
endosome 5
extracellular 5
nucleus 5
cytosol 3
mitochondrion 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SPAST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16026783
GO:0005737 cytoplasm IDA 16026783
GO:0005768 colocalizes_with endosome IDA 19000169
GO:0005783 colocalizes_with endoplasmic reticulum IDA 19000169
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with SPAST: view

Pathways & Interactions for SPAST Gene

SuperPathways for SPAST Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPAST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 21310966
GO:0001578 microtubule bundle formation IDA 16219033
GO:0006888 ER to Golgi vesicle-mediated transport IMP 19000169
GO:0007049 cell cycle IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with SPAST: view

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

Drugs & Compounds for SPAST Gene

(4) Drugs for SPAST Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for SPAST Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with SPAST: view

Transcripts for SPAST Gene

Unigene Clusters for SPAST Gene

Spastin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SPAST Gene

GeneLoc Exon Structure for
SPAST
ECgene alternative splicing isoforms for
SPAST

Expression for SPAST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPAST Gene

Protein differential expression in normal tissues from HIPED for SPAST Gene

This gene is overexpressed in Vitreous humor (33.6) and Peripheral blood mononuclear cells (16.2).

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



NURSA nuclear receptor signaling pathways regulating expression of SPAST Gene:

SPAST

SOURCE GeneReport for Unigene cluster for SPAST Gene:

Hs.468091

mRNA Expression by UniProt/SwissProt for SPAST Gene:

Q9UBP0-SPAST_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The short isoforms may predominate in brain and spinal cord.
genes like me logo Genes that share expression patterns with SPAST: 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 SPAST Gene

Orthologs for SPAST Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPAST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAST 34 35
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia SPAST 34 35
  • 94.2 (n)
cow
(Bos Taurus)
Mammalia SPAST 34 35
  • 93.07 (n)
oppossum
(Monodelphis domestica)
Mammalia SPAST 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPAST 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spast 34
  • 89.59 (n)
mouse
(Mus musculus)
Mammalia Spast 34 16 35
  • 89.12 (n)
chicken
(Gallus gallus)
Aves SPAST 34 35
  • 83.1 (n)
lizard
(Anolis carolinensis)
Reptilia SPAST 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spast 34
  • 73.37 (n)
Str.10574 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32426 34
zebrafish
(Danio rerio)
Actinopterygii spast 34 35
  • 64.98 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta SPAST_ANOGA 34
  • 54.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta spas 34 35
  • 53.26 (n)
worm
(Caenorhabditis elegans)
Secernentea spas-1 34 35
  • 54.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YTA6 35
  • 26 (a)
ManyToMany
SAP1 35 37
  • 23 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G45500 34
  • 53.67 (n)
rice
(Oryza sativa)
Liliopsida Os06g0130000 34
  • 57.42 (n)
Os.4292 34
wheat
(Triticum aestivum)
Liliopsida Ta.25966 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.581 34
Species where no ortholog for SPAST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SPAST Gene

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

Paralogs for SPAST Gene

Paralogs for SPAST Gene

(5) SIMAP similar genes for SPAST Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SPAST: view

Variants for SPAST Gene

Sequence variations from dbSNP and Humsavar for SPAST Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121908509 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601], Pathogenic 32,116,199(+) TCCTT(C/G)TCTGA reference, missense
rs121908510 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601], Pathogenic 32,136,898(+) TTTGT(A/G)TGAAA reference, missense
rs121908511 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601], Pathogenic 32,141,905(+) TTAGG(C/T)GTTTC reference, missense
rs121908512 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601], Pathogenic 32,136,877(+) TCTAG(A/G)TGAAG reference, missense
rs121908513 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601], Pathogenic 32,116,145(+) TGATA(A/T)AGCTG reference, missense

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

Variant ID Type Subtype PubMed ID
esv2659839 CNV deletion 23128226
esv2668359 CNV deletion 23128226
esv3590238 CNV loss 21293372
esv3590239 CNV loss 21293372
esv3590240 CNV gain 21293372
nsv820001 CNV gain 19587683
nsv828698 CNV gain 20364138
nsv833670 CNV loss 17160897

Variation tolerance for SPAST Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAST Gene

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

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

Disorders for SPAST Gene

MalaCards: The human disease database

(10) MalaCards diseases for SPAST Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 4, autosomal dominant
  • spg4
spastic paraplegia 4
  • spastic paraplegia 4, autosomal dominant
paraplegia
  • paraplegia, lower
hereditary spastic paraplegia
  • familial spastic paraplegia
spastic paraplegia 3a
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search SPAST in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPAST_HUMAN
  • Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601]: 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:10610178, ECO:0000269 PubMed:10699187, ECO:0000269 PubMed:11015453, ECO:0000269 PubMed:11039577, ECO:0000269 PubMed:11087788, ECO:0000269 PubMed:11309678, ECO:0000269 PubMed:11843700, ECO:0000269 PubMed:11985387, ECO:0000269 PubMed:12124993, ECO:0000269 PubMed:12161613, ECO:0000269 PubMed:12163196, ECO:0000269 PubMed:12202986, ECO:0000269 PubMed:12460147, ECO:0000269 PubMed:12552568, ECO:0000269 PubMed:12939659, ECO:0000269 PubMed:14732620, ECO:0000269 PubMed:15159500, ECO:0000269 PubMed:15210521, ECO:0000269 PubMed:15248095, ECO:0000269 PubMed:15326248, ECO:0000269 PubMed:15482961, ECO:0000269 PubMed:15667412, ECO:0000269 PubMed:16682546, ECO:0000269 PubMed:16684598, ECO:0000269 PubMed:17594340, ECO:0000269 PubMed:18613979, ECO:0000269 PubMed:20214791, ECO:0000269 PubMed:20550563, ECO:0000269 PubMed:20562464, ECO:0000269 PubMed:20718791, ECO:0000269 PubMed:20932283, ECO:0000269 PubMed:21546041, ECO:0000269 PubMed:22960362, ECO:0000269 PubMed:23279441, ECO:0000269 PubMed:24824479, ECO:0000269 PubMed:25045380, ECO:0000269 PubMed:25421405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPAST

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

No data available for Genatlas for SPAST Gene

Publications for SPAST Gene

  1. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (PMID: 16682546) Crippa F. … Bassi M.T. (Arch. Neurol. 2006) 3 4 22 46 64
  2. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. (PMID: 14732620) Tang B. … Jiang H. (Arch. Neurol. 2004) 3 4 22 46 64
  3. Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. (PMID: 20214791) Braschinsky M. … Haldre S. (BMC Neurol. 2010) 3 4 46 64
  4. Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. (PMID: 19000169) Connell J.W. … Reid E. (Traffic 2009) 3 4 22 64
  5. Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. (PMID: 18997780) Yang D. … Hurley J.H. (Nat. Struct. Mol. Biol. 2008) 3 4 22 64

Products for SPAST Gene

Sources for SPAST Gene

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