SPART

Protein identityUniProt · HPA

UniProt accession

Q8N0X7

Gene

SPART

Ensembl

ENSG00000133104

Chromosome

13

Canonical length

666 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

666 residues, UniProt reviewed canonical sequence.

>Q8N0X7|SPART
     1  MEQEPQNGEP AEIKIIREAY KKAFLFVNKG LNTDELGQKE EAKNYYKQGI GHLLRGISIS
    61  SKESEHTGPG WESARQMQQK MKETLQNVRT RLEILEKGLA TSLQNDLQEV PKLYPEFPPK
   121  DMCEKLPEPQ SFSSAPQHAE VNGNTSTPSA GAVAAPASLS LPSQSCPAEA PPAYTPQAAE
   181  GHYTVSYGTD SGEFSSVGEE FYRNHSQPPP LETLGLDADE LILIPNGVQI FFVNPAGEVS
   241  APSYPGYLRI VRFLDNSLDT VLNRPPGFLQ VCDWLYPLVP DRSPVLKCTA GAYMFPDTML
   301  QAAGCFVGVV LSSELPEDDR ELFEDLLRQM SDLRLQANWN RAEEENEFQI PGRTRPSSDQ
   361  LKEASGTDVK QLDQGNKDVR HKGKRGKRAK DTSSEEVNLS HIVPCEPVPE EKPKELPEWS
   421  EKVAHNILSG ASWVSWGLVK GAEITGKAIQ KGASKLRERI QPEEKPVEVS PAVTKGLYIA
   481  KQATGGAAKV SQFLVDGVCT VANCVGKELA PHVKKHGSKL VPESLKKDKD GKSPLDGAMV
   541  VAASSVQGFS TVWQGLECAA KCIVNNVSAE TVQTVRYKYG YNAGEATHHA VDSAVNVGVT
   601  AYNINNIGIK AMVKKTATQT GHTLLEDYQI VDNSQRENQE GAANVNVRGE KDEQTKEVKE
   661  AKKKDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPART can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.46

Highest tissue expression

63 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPART.

Disease | AllUniProt

Conditions SPART is implicated in, by any mechanism.

• Spastic paraplegia 20, autosomal recessive (SPG20) MIM:275900

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 416 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Troyer syndrome
• Neurodevelopmental delay
• SPART-related disorder
• Inborn genetic diseases
• 6 conditions

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.84

gnomAD pLI

0

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adipose tissue development
• BMP signaling pathway
• cell division
• collateral sprouting in absence of injury
• lipid catabolic process
• lipid droplet organization
• lipid transport
• lipophagy
• midbody abscission
• negative regulation of BMP signaling pathway
• neuromuscular process
• regulation of mitochondrial membrane potential
• negative regulation of collateral sprouting in absence of injury

Molecular functions

• lipid binding
• ubiquitin protein ligase binding

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• MIT domain
• MIT domain superfamily
• Senescence/spartin-associated, C-terminal
• Spartin-like
• Senescence domain

KeywordsUniProt

• Acetylation
• Cytoplasm
• Hereditary spastic paraplegia
• Isopeptide bond
• Lipid degradation
• Lipid droplet
• Lipid metabolism
• Lipid transport
• Lipid-binding
• Neurodegeneration
• Phosphoprotein
• Transport
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SPART in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ITCH
• MAP1LC3A
• MAP1LC3C
• WWP1
• IST1