SPG20

Gene Information

Official Symbol: SPART
Official Name: spartin
Aliases and Previous Symbols: N/A
Entrez ID: 23111
UniProt: Q8N0X7
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008].
UniProt Summary: May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964). {ECO:0000269|PubMed:20719964}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 15545
Expression level (log2 read counts): 1.09

Expression Distribution

Screen	Score
2-Methoxyestradiol 0.2μM R01 exp40	1.83
Rotenone 2μM R00 exp33	2.06

Senescence
MIT

negative regulation of collateral sprouting in absence of injury
regulation of collateral sprouting in absence of injury
abscission
negative regulation of collateral sprouting
regulation of collateral sprouting
lipid droplet organization
adipose tissue development
negative regulation of BMP signaling pathway
negative regulation of axonogenesis
regulation of mitochondrial membrane potential
lipid droplet
regulation of BMP signaling pathway
negative regulation of cell morphogenesis involved in differentiation
negative regulation of developmental growth
neuromuscular process
regulation of extent of cell growth
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
negative regulation of cellular response to growth factor stimulus
negative regulation of neuron projection development
midbody
mitochondrial outer membrane
negative regulation of cell projection organization
regulation of cell size
negative regulation of cell growth
regulation of axonogenesis
connective tissue development
negative regulation of neuron differentiation
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
negative regulation of growth
synapse
regulation of cellular response to growth factor stimulus
negative regulation of neurogenesis
ubiquitin protein ligase binding
regulation of cell morphogenesis involved in differentiation
negative regulation of nervous system development
regulation of developmental growth
negative regulation of cell development
regulation of cellular component size
regulation of cell growth
regulation of membrane potential