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
385032852024Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH.2
385032852024Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH.2
347514092022KLF4, DAPK1 and SPG20 promoter methylation is not affected by DNMT1 silencing and hypomethylating drugs in lymphoma cells.5
353895702022Spastic Paraplegia 20 and Serine/Threonine Protein Kinase 31 Expression for the Detection of Colorectal Cancer.1
347514092022KLF4, DAPK1 and SPG20 promoter methylation is not affected by DNMT1 silencing and hypomethylating drugs in lymphoma cells.5
353895702022Spastic Paraplegia 20 and Serine/Threonine Protein Kinase 31 Expression for the Detection of Colorectal Cancer.1
311095942019Aberrant methylation status of SPG20 promoter in hepatocellular carcinoma: A potential tumor metastasis biomarker.3
313145952019A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.6
311095942019Aberrant methylation status of SPG20 promoter in hepatocellular carcinoma: A potential tumor metastasis biomarker.3
313145952019A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.6
296735862018Methylation-induced silencing of SPG20 facilitates gastric cancer cell proliferation by activating the EGFR/MAPK pathway.11
296735862018Methylation-induced silencing of SPG20 facilitates gastric cancer cell proliferation by activating the EGFR/MAPK pathway.11
286796902017SPG20 mutation in three siblings with familial hereditary spastic paraplegia.6
286796902017SPG20 mutation in three siblings with familial hereditary spastic paraplegia.6
259424542015Chromosome mis-segregation and cytokinesis failure in trisomic human cells.53

Citation

Dessen P

SPART (spartin)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56978/spart-(spartin)