| Name | spartin |
| Description | 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] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSpartin, the protein product of SPG20, is a multifunctional adaptor whose deficiency underlies Troyer syndrome—a complicated hereditary spastic paraplegia. Spartin shares sequence similarity with factors involved in endosomal trafficking and microtubule interactions and acts as a molecular scaffold by binding to endocytic proteins such as Eps15 and by recruiting multiple ubiquitin ligases. In doing so, it facilitates the internalization and lysosomal degradation of key signaling receptors like the epidermal growth factor receptor (EGFR) and bone morphogenetic protein (BMP) receptors, thereby modulating downstream signaling pathways critical for neuronal and axonal maintenance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in receptor trafficking, spartin contributes to cytoskeletal dynamics and lipid droplet homeostasis. It localizes to lipid droplets through an interaction with associated proteins such as TIP47, thereby regulating their size and number. Spartin is also partially associated with microtubules—a feature important for correct intracellular organelle trafficking—and its deficiency or aberrant expression has been linked to impaired cytokinesis and abnormal synaptic growth, as observed in both cellular and Drosophila models. Moreover, despite investigation into its potential involvement in other neurological phenotypes, studies indicate that mutations in SPG20 do not significantly modify multiple sclerosis outcomes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurthermore, spartin plays a critical role in mitochondrial function and cellular stress responses. Loss‐of‐function mutations—including those resulting in premature truncation as seen in Omani and other affected families—lead to impaired mitochondrial respiration characterized by decreased complex I activity, reduced ATP synthesis, and altered Ca²⁺ handling. In parallel, spartin participates in the quality control of damaged lysosomes by sensing membrane perturbations and recruiting factors (via binding to IST1) that trigger ubiquitin‐mediated lysophagy. Aberrant epigenetic silencing of the SPG20 promoter through hypermethylation has been documented in several malignancies—ranging from colorectal and gastric cancers to hepatocellular and lymphoid tumors—thereby linking spartin deficiency to dysregulated EGFR/MAPK signaling and abnormal cell proliferation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "14", "end_ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Heema Patel, Harold Cross, Christos Proukakis, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "The Troyer syndrome (SPG20) protein spartin interacts with Eps15."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2005.06.201"}], "href": "https://doi.org/10.1016/j.bbrc.2005.06.201"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16036216"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16036216"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Joanna C Bakowska, Henri Jupille, Parvin Fatheddin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e06-09-0833"}], "href": "https://doi.org/10.1091/mbc.e06-09-0833"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17332501"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17332501"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hilda T H Tsang, Thomas L Edwards, Xinnan Wang, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1741-7007-8-72"}], "href": "https://doi.org/10.1186/1741-7007-8-72"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20504295"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20504295"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Benoît Renvoisé, Rell L Parker, Dong Yang, et al. 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A study of disease susceptibility and clinical outcome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-006-0505-4"}], "href": "https://doi.org/10.1007/s00415-006-0505-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17420921"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17420921"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Scott W Eastman, Mina Yassaee, Paul D Bieniasz "}, {"type": "b", "children": [{"type": "t", "text": "A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200808041"}], "href": "https://doi.org/10.1083/jcb.200808041"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19307600"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19307600"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Thomas L Edwards, Virginia E Clowes, Hilda T H Tsang, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Methylation-induced silencing of SPG20 facilitates gastric cancer cell proliferation by activating the EGFR/MAPK pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2018.04.089"}], "href": "https://doi.org/10.1016/j.bbrc.2018.04.089"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29673586"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29673586"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Lifeng He, Xiaoxiao Fan, Yirun Li, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "KLF4, DAPK1 and SPG20 promoter methylation is not affected by DNMT1 silencing and hypomethylating drugs in lymphoma cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2021.8221"}], "href": "https://doi.org/10.3892/or.2021.8221"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34751409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34751409"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Nivin A Hassan, Naglaa K Idriss, Noha Gaber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spastic Paraplegia 20 and Serine/Threonine Protein Kinase 31 Expression for the Detection of Colorectal Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Physiol Biochem (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.33594/000000509"}], "href": "https://doi.org/10.33594/000000509"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35389570"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35389570"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Pinki Gahlot, Bojana Kravic, Giulia Rota, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2024.02.029"}], "href": "https://doi.org/10.1016/j.molcel.2024.02.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38503285"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38503285"}]}]}]}
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| NCBI Gene ID | 23111 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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SPART has 2,498 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 48 datasets.
Click the + buttons to view associations for SPART from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SPART gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of SPART gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with SPART protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with SPART gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of SPART gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with SPART gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of SPART gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing SPART protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing SPART protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with SPART protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by SPART gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving SPART gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with SPART gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with SPART gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with SPART gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving SPART gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving SPART gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing SPART protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing SPART protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by SPART gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by SPART gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of SPART gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of SPART gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of SPART gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with SPART gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by SPART gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of SPART gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of SPART gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving SPART protein from the KEGG Pathways 2026 dataset. | |
| Kinase Library Tyrosine Kinome Atlas | kinases that phosphorylate SPART protein from the Kinase Library Tyrosine Kinome Atlas dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of SPART gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of SPART gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by SPART gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of SPART gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of SPART gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving SPART protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving SPART protein from the Wikipathways PFOCR 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of SPART gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of SPART gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of SPART gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of SPART gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of SPART gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of SPART gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of SPART gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of SPART gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SPART protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SPART protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with SPART protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
