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SPAST spastin [ Homo sapiens (human) ]

Gene ID: 6683, updated on 14-Jun-2018
Official Symbol
SPASTprovided by HGNC
Official Full Name
spastinprovided by HGNC
Primary source
HGNC:HGNC:11233
See related
Ensembl:ENSG00000021574 MIM:604277; Vega:OTTHUMG00000128455
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FSP2; SPG4; ADPSP
Summary
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 use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]
Expression
Ubiquitous expression in brain (RPKM 7.7), testis (RPKM 5.2) and 25 other tissues See more
Orthologs
See SPAST in Genome Data Viewer
Location:
2p22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (32063551..32157637)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32288660..32382706)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mediator of cell motility 1 Neighboring gene dpy-30, histone methyltransferase complex regulatory subunit Neighboring gene solute carrier family 30 member 6 Neighboring gene DEAD-box helicase 50 pseudogene 1 Neighboring gene RNA, U6 small nuclear 647, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spastic paraplegia 4, autosomal dominant
MedGen: C1866855 OMIM: 182601 GeneReviews: Spastic Paraplegia 4
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NHGRI GWAS Catalog

Description
Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of spastin (SPAST) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1083

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alpha-tubulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-tubulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
microtubule-severing ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-severing ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
axonal transport of mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cytokinetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton-dependent cytokinesis TAS
Traceable Author Statement
more info
PubMed 
exit from mitosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
microtubule bundle formation IDA
Inferred from Direct Assay
more info
PubMed 
microtubule severing IDA
Inferred from Direct Assay
more info
PubMed 
microtubule severing IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule severing TAS
Traceable Author Statement
more info
PubMed 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope reassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein hexamerization IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with ESCRT III complex TAS
Traceable Author Statement
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
colocalizes_with endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
lipid droplet IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with midbody IDA
Inferred from Direct Assay
more info
PubMed 
midbody IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
spindle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
spastin
Names
spastic paraplegia 4 (autosomal dominant; spastin)
spastic paraplegia 4 protein
NP_055761.2
NP_955468.1
XP_005264573.1
XP_011531369.1
XP_016860266.1
XP_016860267.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008730.1 RefSeqGene

    Range
    5001..99027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_714

mRNA and Protein(s)

  1. NM_001363823.1NP_001350752.1  spastin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1. This variant is also predicted to use an alternate, in-frame, downstream translation initiation site to encode an even shorter isoform.
    Source sequence(s)
    AL121655, AL121658
  2. NM_001363875.1NP_001350804.1  spastin isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region, compared to variant 1. It encodes a shorter isoform (4), compared to isoform 1. This variant is also predicted to use an alternate, in-frame, downstream translation initiation site to encode an even shorter isoform.
    Source sequence(s)
    AL121655, AL121658
    Consensus CDS
    CCDS86830.1
  3. NM_014946.3NP_055761.2  spastin isoform 1

    See identical proteins and their annotated locations for NP_055761.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1; also known as M1). It also encodes a shorter isoform (M87) from an alternate, in-frame, downstream translation initiation site.
    Source sequence(s)
    AA830062, AB029006, AJ246001, BG532310
    Consensus CDS
    CCDS1778.1
    UniProtKB/Swiss-Prot
    Q9UBP0
    UniProtKB/TrEMBL
    E5KRP5
    Related
    ENSP00000480893.1, ENST00000615843.4
    Conserved Domains (2) summary
    COG0464
    Location:311597
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    cd02679
    Location:116195
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
  4. NM_199436.1NP_955468.1  spastin isoform 2

    See identical proteins and their annotated locations for NP_955468.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), compared to isoform 1. This variant is also predicted to use an alternate, in-frame, downstream translation initiation site to encode an even shorter isoform.
    Source sequence(s)
    AA830062, AB029006, BG532310
    Consensus CDS
    CCDS1779.1
    UniProtKB/Swiss-Prot
    Q9UBP0
    UniProtKB/TrEMBL
    E5KRP6
    Related
    ENSP00000495015.1, OTTHUMP00000158570, ENST00000646571.1, OTTHUMT00000250252
    Conserved Domains (2) summary
    COG0464
    Location:279565
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    cd02679
    Location:116195
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    32063551..32157637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533067.2XP_011531369.1  spastin isoform X3

    See identical proteins and their annotated locations for XP_011531369.1

    Conserved Domains (2) summary
    COG0464
    Location:311547
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    cd02679
    Location:116195
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
  2. XM_017004778.2XP_016860267.1  spastin isoform X4

    Related
    ENSP00000495478.1, ENST00000642751.1
  3. XM_017004777.2XP_016860266.1  spastin isoform X2

    Related
    ENSP00000493827.1, ENST00000642455.1
  4. XM_005264516.5XP_005264573.1  spastin isoform X1

    See identical proteins and their annotated locations for XP_005264573.1

    Related
    ENSP00000482496.2, ENST00000621856.2
    Conserved Domains (2) summary
    COG0464
    Location:310596
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    cd02679
    Location:116194
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
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