SPART (spartin)

2017-08-01  

Identity

HGNC
SPART
LOCATION
13q13.3
LOCUSID
23111
ALIAS
SPG20,TAHCCP1

Other Information

Locus ID:

NCBI: 23111
MIM: 607111
HGNC: 18514
Ensembl: ENSG00000133104

Variants:

dbSNP: 23111
ClinVar: 23111
TCGA: ENSG00000133104
COSMIC: SPART

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133104ENST00000355182Q8N0X7
ENSG00000133104ENST00000355182A0A024RDV9
ENSG00000133104ENST00000438666Q8N0X7
ENSG00000133104ENST00000438666A0A024RDV9
ENSG00000133104ENST00000451493Q8N0X7
ENSG00000133104ENST00000451493A0A024RDV9
ENSG00000133104ENST00000494062Q8N0X7
ENSG00000133104ENST00000494062A0A024RDV9
ENSG00000133104ENST00000650221Q8N0X7
ENSG00000133104ENST00000650221A0A024RDV9

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

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
121341482002SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.63
193076002009A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover.54
234391212013Spartin regulates synaptic growth and neuronal survival by inhibiting BMP-mediated microtubule stabilization.51
196201822009The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.45
173325012007Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.41
205042952010Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.30
207199642010SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.30
195805442009Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.29
214993092011SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.27
259424542015Chromosome mis-segregation and cytokinesis failure in trisomic human cells.27

Citation

Dessen P

SPART (spartin)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56978/spart