Seroatlas · Human Serome Atlas

SPAST

Spastin

Also known as: ADPSP, FSP2, KIAA1083, SPAST_HUMAN, SPG4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UBP0
Gene: SPAST
Ensembl: ENSG00000021574
Chromosome: 2
Canonical length: 616 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homohexamer

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

616 residues, UniProt reviewed canonical sequence.

>Q9UBP0|SPAST
     1  MNSPGGRGKK KGSGGASNPV PPRPPPPCLA PAPPAAGPAP PPESPHKRNL YYFSYPLFVG
    61  FALLRLVAFH LGLLFVWLCQ RFSRALMAAK RSSGAAPAPA SASAPAPVPG GEAERVRVFH
   121  KQAFEYISIA LRIDEDEKAG QKEQAVEWYK KGIEELEKGI AVIVTGQGEQ CERARRLQAK
   181  MMTNLVMAKD RLQLLEKMQP VLPFSKSQTD VYNDSTNLAC RNGHLQSESG AVPKRKDPLT
   241  HTSNSLPRSK TVMKTGSAGL SGHHRAPSYS GLSMVSGVKQ GSGPAPTTHK GTPKTNRTNK
   301  PSTPTTATRK KKDLKNFRNV DSNLANLIMN EIVDNGTAVK FDDIAGQDLA KQALQEIVIL
   361  PSLRPELFTG LRAPARGLLL FGPPGNGKTM LAKAVAAESN ATFFNISAAS LTSKYVGEGE
   421  KLVRALFAVA RELQPSIIFI DEVDSLLCER REGEHDASRR LKTEFLIEFD GVQSAGDDRV
   481  LVMGATNRPQ ELDEAVLRRF IKRVYVSLPN EETRLLLLKN LLCKQGSPLT QKELAQLARM
   541  TDGYSGSDLT ALAKDAALGP IRELKPEQVK NMSASEMRNI RLSDFTESLK KIKRSVSPQT
   601  LEAYIRWNKD FGDTTV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPAST can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.44
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

thymus: 13 nTPM
spinal cord: 13 nTPM
cerebral cortex: 13 nTPM
bone marrow: 9.7 nTPM
midbrain: 9.4 nTPM
testis: 9.4 nTPM

Single-cell type

neutrophils: 213 nCPM
neutrophil progenitors: 162 nCPM
thymocytes: 96 nCPM
myonuclei: 93 nCPM
oligodendrocytes: 88 nCPM
pituitary stem cells: 87 nCPM

Immune cell

neutrophil: 5.6 nTPM
intermediate monocyte: 4.9 nTPM
T-reg: 4.2 nTPM
myeloid DC: 3.9 nTPM
NK-cell: 3.9 nTPM
eosinophil: 3.8 nTPM

Brain region

white matter: 33 nTPM
basal ganglia: 29 nTPM
spinal cord: 28 nTPM
midbrain: 27 nTPM
cerebellum: 26 nTPM
medulla oblongata: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPAST.

Disease | AllUniProt

Conditions SPAST is implicated in, by any mechanism.

Spastic paraplegia 4, autosomal dominant (SPG4) MIM:182601

Disease | GeneticClinVar

656 pathogenic / likely-pathogenic of 1,516 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.22
gnomAD pLI: 1
gnomAD missense Z: 1.24
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SPAST in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SPAST as an antibody target. Whether an autoantibody or antibody against SPAST could matter depends on whether native SPAST is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SPAST is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SPAST as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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