SPAST (spastin)

2016-10-01  

Identity

HGNC
SPAST
LOCATION
2p22.3
LOCUSID
6683
ALIAS
ADPSP,FSP2,SPG4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6683
MIM: 604277
HGNC: 11233
Ensembl: ENSG00000021574

Variants:

dbSNP: 6683
ClinVar: 6683
TCGA: ENSG00000021574
COSMIC: SPAST

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000021574ENST00000315285Q9UBP0
ENSG00000021574ENST00000315285E5KRP5
ENSG00000021574ENST00000345662Q9UBP0
ENSG00000021574ENST00000345662E5KRP6
ENSG00000021574ENST00000615843Q9UBP0
ENSG00000021574ENST00000615843E5KRP5
ENSG00000021574ENST00000621856A0A2U3TZR0
ENSG00000021574ENST00000642281A0A2R8YGN6
ENSG00000021574ENST00000642455A0A2R8Y4I8
ENSG00000021574ENST00000642751A0A2R8YFW8
ENSG00000021574ENST00000642999Q9UBP0
ENSG00000021574ENST00000643327A0A2R8YEA0
ENSG00000021574ENST00000643334A0A2R8Y5I6
ENSG00000021574ENST00000644408A0A2R8YCL5
ENSG00000021574ENST00000644954Q9UBP0
ENSG00000021574ENST00000645400A0A2R8Y7W6
ENSG00000021574ENST00000645671A0A2R8Y5N9
ENSG00000021574ENST00000645730A0A2R8Y7K2
ENSG00000021574ENST00000646082A0A2R8YFC9
ENSG00000021574ENST00000646571Q9UBP0
ENSG00000021574ENST00000646571E5KRP6
ENSG00000021574ENST00000647133A0A2R8Y481

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
202004472010Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.143
182026642008Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin.126
260407122015Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing.101
190001692009Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.95
189977802008Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.89
118097242002Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.86
268758662016Graded Control of Microtubule Severing by Tubulin Glutamylation.67
163392132006Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.58
173892322007Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing.58
250659142014The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.49

Citation

Dessen P

SPAST (spastin)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56127/spast