SPART

Also known as SPARTIN, TAHCCP1, SPG20, spastic paraplegia 20 (Troyer syndrome)

Spartin is a protein that in humans is encoded by the SPG20 gene.

In the Vinony graph

Vinony's link graph records 5 inbound references to SPART, and connects out to PubMed, human chromosome 13 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 13.

Vinony links it to 7 Wikipedia language editions.

Gene data

SPART

Name: spartin
Type: protein-coding
Position: 36,301,638–36,370,217 (−)
Aliases: SPG20, TAHCCP1
Ensembl: ENSG00000133104
RefSeq RNA: NM_001142294.2, NM_001142295.2, NM_001142296.2, NM_015087.5, XM_005266313.6
RefSeq protein: NP_001135766.1, NP_001135767.1, NP_001135768.1, NP_055902.1, XP_005266370.1

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].

Gene Ontology

Biological process

lipid transport negative regulation of BMP signaling pathway cell division cell division regulation of mitochondrial membrane potential lipophagy lipophagy midbody abscission

Molecular function

protein binding lipid binding ubiquitin protein ligase binding

Cellular component

cytoplasm cytoplasm mitochondrial outer membrane lipid droplet lipid droplet cytosol plasma membrane midbody

Pathways

Endocytosis - Homo sapiens (human)

via MyGene.info

Gene · Ensembl

spartin

Symbol: SPART
Biotype: Protein coding
Organism: Homo sapiens
Location: 13:36,301,638-36,370,217
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: Protein SPG20 PDB 2dl1.png

Show 7 more facts

HomoloGene ID: 32243
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/23111
genomic end: 36944317
genomic start: 36875775
chromosome: human chromosome 13
cytogenetic location: 13q13.3

Sources (5)

via Wikidata · CC0

~3 min read

Encyclopedic overview

10 sections

Contents

Background
Presentation
Physical
Cognitive
Neurologic
Diagnostic Imaging
Through Lifespan
References
External links
Further reading

Spartin is a protein that in humans is encoded by the SPG20 gene.

This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Spartin loss has been associated to mitochondrial dysfunction, impaired complex I activity and altered pyruvate metabolism. Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs.

Excerpted from Wikipedia’s “SPART” article, available under the CC BY-SA 4.0 licence.