Property Summary

NCBI Gene PubMed Count 154
Grant Count 67
R01 Count 28
Funding $12,751,576.7
PubMed Score 307.32
PubTator Score 333.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
group 4 medulloblastoma 2.100 0.000
primitive neuroectodermal tumor 1.100 0.001
non-small cell lung cancer 1.389 0.000
lung cancer 2.100 0.000
primary Sjogren syndrome 1.200 0.000
aldosterone-producing adenoma -1.036 0.016
Gaucher disease type 3 -1.400 0.006

Synonym

Accession Q9UBP0 A7E2A7 Q9UPR9
Symbols FSP2
SPG4
ADPSP

Gene

PDB

3EAB   3VFD  

Gene RIF (127)

PMID Text
26875866 Using human-engineered and differentially modified microtubules study finds that glutamylation is the main regulator of the hereditary spastic paraplegia microtubule severing enzyme spastin.
26671083 This study demonstrated that SPAST gene mutation associated with hereditary spastic paraplegias in group of Polish patients
26600529 We identified two novel mutations and two previously reported mutations in SPAST and ATL1, respectively. The family with the ATL1 c.1204T>G mutation exhibited male-lethality, female infancy-onset, and pseudo- X-linked dominant transmission
26208798 Novel SPAST pathogenic variants were identified in Korean patients with hereditary spastic paraplegia.
26165777 Patients with deletions of exons in the SPAST gene showed pure hereditary spastic paraplegia.
26094131 The spastin as a microtubule-severing protein was an important mechanistic breakthrough, it seems certain that insufficient microtubule severing alone is not an adequate explanation for HSP-SPG4.
26040712 ESCRT-III, VPS4 and spastin cooperate to coordinate nuclear envelope sealing and spindle disassembly at nuclear envelope-microtubule intersection sites during mitotic exit to ensure nuclear integrity and genome safeguarding
25511172 The coexistence of mutations in SPAST and FSHD was confirmed in our proband and in two siblings
25454648 Data showed 3 micro-mutations and 2 exon deletions in SPAST gene and 2 micro-mutations in ATL1 gene in this cohort of Chinese patients with spastic paraplegia.
25390646 NA14 may act as an adaptor protein regulating SPG4 localization to centrosomes, temporally and spatially regulating the microtubule-severing activity of SPG4 that is particularly critical during the cell cycle and neuronal development.
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AA Sequence

MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVGFALLRLVAFH      1 - 70
LGLLFVWLCQRFSRALMAAKRSSGAAPAPASASAPAPVPGGEAERVRVFHKQAFEYISIALRIDEDEKAG     71 - 140
QKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAKMMTNLVMAKDRLQLLEKMQPVLPFSKSQTD    141 - 210
VYNDSTNLACRNGHLQSESGAVPKRKDPLTHTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQ    211 - 280
GSGPAPTTHKGTPKTNRTNKPSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLA    281 - 350
KQALQEIVILPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGE    351 - 420
KLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRVLVMGATNRPQ    421 - 490
ELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQGSPLTQKELAQLARMTDGYSGSDLTALAKDAALGP    491 - 560
IRELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQTLEAYIRWNKDFGDTTV                  561 - 616
//

Text Mined References (170)

PMID Year Title
26875866 2016 Graded Control of Microtubule Severing by Tubulin Glutamylation.
26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
26600529 2015 Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
26165777 2015 Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
26040712 2015 Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing.
25875445 2015 Spastin binds to lipid droplets and affects lipid metabolism.
25511172 2015 A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.
25454648 2014 Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
More...