| Name | WASH complex subunit 5 |
| Description | This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nWASHC5, also known as strumpellin and encoded by the KIAA0196 gene, is a key subunit of the WASH complex that regulates actin dynamics on endosomal membranes. This regulation underpins proper endosomal sorting and trafficking of membrane proteins—a function that is particularly critical in neurons, where precise membrane recycling supports axonal growth and synaptic function. Disruption of WASHC5 function is implicated in hereditary spastic paraplegia (HSP), with several mutations leading to impaired axonal outgrowth and altered subcellular localization of receptors, as evidenced in human patient studies and animal models."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in neuronal integrity, WASHC5 is crucial for endosomal sorting of key receptors such as the low‐density lipoprotein receptor (LDLR) and β2‐adrenergic receptors. Proper trafficking of these receptors is essential for lipid metabolism and cholesterol homeostasis. Defective WASHC5 function results in receptor mislocalization and enhanced lysosomal degradation, thereby impairing receptor-mediated uptake (and, consequently, proper plasma membrane recycling) and contributing to metabolic disturbances."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its roles in endosomal dynamics and receptor trafficking, dysregulation of WASHC5 is linked to broader clinical phenotypes. Increased gene expression or amplification of KIAA0196 has been observed in contexts such as prostate cancer, suggesting potential oncogenic roles. Furthermore, biallelic mutations in WASHC5 have been implicated in Ritscher‐Schinzel syndrome, a multisystem disorder distinguished by craniofacial dysmorphism, cerebellar anomalies, and cardiac malformations. Ongoing genetic studies continue to reveal novel mutations in WASHC5 in families with HSP, thereby underscoring the pleiotropic impact of this protein on both neural and non‐neural tissues."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Paul N Valdmanis, Inge A Meijer, Annie Reynolds, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/510782"}], "href": "https://doi.org/10.1086/510782"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17160902"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17160902"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christoph S Clemen, Karthikeyan Tangavelou, Karl-Heinz Strucksberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awq222"}], "href": "https://doi.org/10.1093/brain/awq222"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20833645"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20833645"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Caroline Freeman, Matthew N J Seaman, Evan Reid "}, {"type": "b", "children": [{"type": "t", "text": "The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2012.10.011"}], "href": "https://doi.org/10.1016/j.bbadis.2012.10.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23085491"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23085491"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Susanne T de Bot, Sascha Vermeer, Wendy Buijsman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-013-6870-x"}], "href": "https://doi.org/10.1007/s00415-013-6870-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23455931"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23455931"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuta Ichinose, Kishin Koh, Megumi Fukumoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Neurol Neurosurg (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.clineuro.2016.02.031"}], "href": "https://doi.org/10.1016/j.clineuro.2016.02.031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26967522"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26967522"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Federica Ginanneschi, Angelica D'Amore, Melissa Barghigiani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SPG8 mutations in Italian families: clinical data and literature review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurol Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10072-019-04180-z"}], "href": "https://doi.org/10.1007/s10072-019-04180-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31814071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31814071"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Paulina Bartuzi, Daniel D Billadeau, Robert Favier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms10961"}], "href": "https://doi.org/10.1038/ncomms10961"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26965651"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26965651"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "You Fu Pan, Ing-Marie Viklund, Heng Hang Tsai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biol Sci (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/ijbs.6.163"}], "href": "https://doi.org/10.7150/ijbs.6.163"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20376207"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20376207"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Kati P Porkka, Teuvo L J Tammela, Robert L Vessella, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.10289"}], "href": "https://doi.org/10.1002/gcc.10289"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14603436"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14603436"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Alison M Elliott, Louise R Simard, Gail Coghlan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2013-101715"}], "href": "https://doi.org/10.1136/jmedgenet-2013-101715"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24065355"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24065355"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Sabrina Neri, Nuno Maia, Ana M Fortuna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2022.104624"}], "href": "https://doi.org/10.1016/j.ejmg.2022.104624"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36130690"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36130690"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Gen Li, Ying Qing, Xuhan Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.1003-9406.2019.06.013"}], "href": "https://doi.org/10.3760/cma.j.issn.1003-9406.2019.06.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31055811"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31055811"}]}]}]}
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| NCBI Gene ID | 9897 |
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| Expression in Tissues and Cell Lines |
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WASHC5 has 3,254 functional associations with biological entities spanning 5 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 42 datasets.
Click the + buttons to view associations for WASHC5 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 WASHC5 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 WASHC5 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with WASHC5 protein from the CCLE Cell Line Proteomics dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of WASHC5 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 WASHC5 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of WASHC5 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing WASHC5 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing WASHC5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with WASHC5 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 WASHC5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving WASHC5 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 WASHC5 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 WASHC5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with WASHC5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving WASHC5 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving WASHC5 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing WASHC5 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing WASHC5 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of WASHC5 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 WASHC5 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with WASHC5 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of WASHC5 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 WASHC5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving WASHC5 protein from the KEGG Pathways 2026 dataset. | |
| Kinase Library Tyrosine Kinome Atlas | kinases that phosphorylate WASHC5 protein from the Kinase Library Tyrosine Kinome Atlas dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of WASHC5 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of WASHC5 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by WASHC5 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of WASHC5 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 WASHC5 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving WASHC5 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving WASHC5 protein from the Wikipathways PFOCR 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of WASHC5 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 WASHC5 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of WASHC5 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of WASHC5 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of WASHC5 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of WASHC5 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of WASHC5 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of WASHC5 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 WASHC5 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 WASHC5 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
