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SPAST spastin [ Homo sapiens (human) ]

Gene ID: 6683, updated on 25-Nov-2021

Summary

Official Symbol
SPASTprovided by HGNC
Official Full Name
spastinprovided by HGNC
Primary source
HGNC:HGNC:11233
See related
Ensembl:ENSG00000021574 MIM:604277
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
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Genomic context

See SPAST in Genome Data Viewer
Location:
2p22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (32063551..32157637)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32288625..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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
GeneReviews: Not available
Spastic paraplegia 4, autosomal dominant
MedGen: C1866855 OMIM: 182601 GeneReviews: Spastic Paraplegia 4
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2019-09-25)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2019-09-25)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1083

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables alpha-tubulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-tubulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
enables microtubule-severing ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables microtubule-severing ATPase activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in axonal transport of mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in axonogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cytokinetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cytoskeleton-dependent cytokinesis TAS
Traceable Author Statement
more info
PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in exit from mitosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule bundle formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in microtubule severing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in microtubule severing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule severing TAS
Traceable Author Statement
more info
PubMed 
involved_in mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic nuclear membrane reassembly TAS
Traceable Author Statement
more info
 
involved_in mitotic spindle disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear membrane reassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of microtubule depolymerization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein hexamerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
colocalizes_with endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with midbody IDA
Inferred from Direct Assay
more info
PubMed 
located_in midbody IDA
Inferred from Direct Assay
more info
PubMed 
located_in midbody IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in nuclear membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in spindle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
spastin
Names
spastic paraplegia 4 (autosomal dominant; spastin)
spastic paraplegia 4 protein
NP_001350752.1
NP_001350804.1
NP_001364888.1
NP_055761.2
NP_955468.1
XP_011531369.1

NCBI Reference Sequences (RefSeq)

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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_001363823.2NP_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
    Related
    ENSP00000482496.2, ENST00000621856.2
    Conserved Domains (4) summary
    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 ...
    pfam09336
    Location:579611
    Vps4_C; Vps4 C terminal oligomerization domain
    pfam17862
    Location:532586
    AAA_lid_3; AAA+ lid domain
    cd19524
    Location:342505
    RecA-like_spastin; ATPase domain of spastin
  2. NM_001363875.2NP_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
    Related
    ENSP00000493827.1, ENST00000642455.1
    Conserved Domains (4) summary
    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 ...
    pfam09336
    Location:547579
    Vps4_C; Vps4 C terminal oligomerization domain
    pfam17862
    Location:500554
    AAA_lid_3; AAA+ lid domain
    cd19524
    Location:310473
    RecA-like_spastin; ATPase domain of spastin
  3. NM_001377959.1NP_001364888.1  spastin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL121655, AL121658
    Related
    ENSP00000495478.1, ENST00000642751.1
    Conserved Domains (2) summary
    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 ...
    cd19524
    Location:311474
    RecA-like_spastin; ATPase domain of spastin
  4. NM_014946.4NP_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)
    AJ246001, AL121655, AL121658
    Consensus CDS
    CCDS1778.1
    UniProtKB/Swiss-Prot
    Q9UBP0
    UniProtKB/TrEMBL
    E5KRP5
    Related
    ENSP00000320885.3, ENST00000315285.9
    Conserved Domains (4) summary
    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 ...
    pfam09336
    Location:580612
    Vps4_C; Vps4 C terminal oligomerization domain
    pfam17862
    Location:533587
    AAA_lid_3; AAA+ lid domain
    cd19524
    Location:343506
    RecA-like_spastin; ATPase domain of spastin
  5. NM_199436.2NP_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)
    AL121655, AL121658, BC150260
    Consensus CDS
    CCDS1779.1
    UniProtKB/Swiss-Prot
    Q9UBP0
    UniProtKB/TrEMBL
    E5KRP6
    Related
    ENSP00000495015.1, ENST00000646571.1
    Conserved Domains (4) summary
    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 ...
    pfam09336
    Location:548580
    Vps4_C; Vps4 C terminal oligomerization domain
    pfam17862
    Location:501555
    AAA_lid_3; AAA+ lid domain
    cd19524
    Location:311474
    RecA-like_spastin; ATPase domain of spastin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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
    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 ...
    cd19524
    Location:343506
    RecA-like_spastin; ATPase domain of spastin
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