CSPP1 Gene

Name	centrosome and spindle pole associated protein 1
Description	This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CSPP1, the centrosome/spindle pole–associated protein 1, is a multifunctional protein that plays crucial roles in both cell division and primary ciliogenesis. In proliferating cells, CSPP1 localizes to centrosomes, spindle poles, and kinetochores, where it contributes to proper spindle assembly, accurate chromosome congression, and the timely execution of cytokinesis (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In terminally differentiated or polarized cells, CSPP1 is found at the primary cilium and is essential for its formation, maintenance, and proper signaling function. Mutations that compromise CSPP1 function lead to defective ciliogenesis, impaired recruitment of key ciliary proteins, and consequent developmental disorders such as Joubert syndrome and related ciliopathies (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "8"}]}, {"type": "t", "text": " Beyond its roles at centrosomes and cilia, emerging studies have uncovered non‐ciliary functions of CSPP1. For example, CSPP1 is implicated in epithelial morphogenesis, where its localization at desmosomes influences proper lumen formation in three‐dimensional cultures (14), and its aberrant expression has been linked to oncogenic processes."}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In several human malignancies—including ovarian cancer, hepatocellular carcinoma, and glioma—circular RNA species derived from CSPP1 (circ‐CSPP1) are highly expressed. These circRNAs function as molecular sponges for specific microRNAs, thereby dysregulating downstream targets involved in epithelial–mesenchymal transition, cell proliferation, migration, and invasion (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "13"}]}, {"type": "t", "text": " In addition, region‐specific expression of CSPP1 in sperm cells is critical for spermatid head shaping and overall sperm morphology, suggesting a role in male fertility (16).\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the versatile roles of CSPP1 in ensuring proper cell cycle progression and in orchestrating ciliary structure and signaling. Perturbations in CSPP1 function—whether by genetic mutation or dysregulated expression of its circular RNA variants—can thus lead to a spectrum of pathologies ranging from developmental ciliopathies to cancer.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michael Asiedu, Di Wu, Fumio Matsumura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Centrosome/spindle pole-associated protein regulates cytokinesis via promoting the recruitment of MyoGEF to the central spindle."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e08-01-0001"}], "href": "https://doi.org/10.1091/mbc.e08-01-0001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19129481"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19129481"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Lijuan Zhu, Zhikai Wang, Wenwen Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitotic Protein CSPP1 Interacts with CENP-H Protein to Coordinate Accurate Chromosome Oscillation in Mitosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M115.658534"}], "href": "https://doi.org/10.1074/jbc.M115.658534"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26378239"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26378239"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Sebastian Patzke, Helena Hauge, Mouldy Sioud, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1208267"}], "href": "https://doi.org/10.1038/sj.onc.1208267"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15580290"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15580290"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.11.019"}], "href": "https://doi.org/10.1016/j.ajhg.2013.11.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24360808"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24360808"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ranad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.11.010"}], "href": "https://doi.org/10.1016/j.ajhg.2013.11.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24360803"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24360803"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Naiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in CSPP1 lead to classical Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.11.015"}], "href": "https://doi.org/10.1016/j.ajhg.2013.11.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24360807"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24360807"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Sebastian Patzke, Sambra Redick, Abdirashid Warsame, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e09-06-0503"}], "href": "https://doi.org/10.1091/mbc.e09-06-0503"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20519441"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20519441"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Kari-Anne M Frikstad, Elisa Molinari, Marianne Thoresen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2019.07.025"}], "href": "https://doi.org/10.1016/j.celrep.2019.07.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31412255"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31412255"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Qian-Hui Li, Yao Liu, Shuo Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "circ-CSPP1 promotes proliferation, invasion and migration of ovarian cancer cells by acting as a miR-1236-3p sponge."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Pharmacother (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biopha.2019.108832"}], "href": "https://doi.org/10.1016/j.biopha.2019.108832"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30965236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30965236"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sunita Sharma, Dipak Sapkota, Ying Xue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Delivery of VEGFA in bone marrow stromal cells seeded in copolymer scaffold enhances angiogenesis, but is inadequate for osteogenesis as compared with the dual delivery of VEGFA and BMP2 in a subcutaneous mouse model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Stem Cell Res Ther (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13287-018-0778-4"}], "href": "https://doi.org/10.1186/s13287-018-0778-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29386057"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29386057"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Y-F Xue, M Li, W Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Roles of circ-CSPP1 on the proliferation and metastasis of glioma cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Rev Med Pharmacol Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.26355/eurrev_202005_21337"}], "href": "https://doi.org/10.26355/eurrev_202005_21337"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32495924"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32495924"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Soudeh Ghafouri-Fard, Tayyebeh Khoshbakht, Bashdar Mahmud Hussen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Emerging role of circular RNAs in the pathogenesis of ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Cell Int (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12935-022-02602-1"}], "href": "https://doi.org/10.1186/s12935-022-02602-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35488239"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35488239"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Qian Sun, Rui Yu, Chunfeng Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Circular RNA circ-CSPP1 regulates CCNE2 to facilitate hepatocellular carcinoma cell growth via sponging miR-577."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Cell Int (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12935-020-01287-8"}], "href": "https://doi.org/10.1186/s12935-020-01287-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32514247"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32514247"}]}]}]}
Synonyms	JBTS21, CSPP
Proteins	CSPP1_HUMAN
NCBI Gene ID	79848
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CSPP1 has 6,058 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 113 datasets.

Click the + buttons to view associations for CSPP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CSPP1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CSPP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CSPP1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CSPP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CSPP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CSPP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CSPP1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CSPP1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CSPP1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CSPP1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CSPP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CSPP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CSPP1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CSPP1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CSPP1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CSPP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CSPP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CSPP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CSPP1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CSPP1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CSPP1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CSPP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CSPP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CSPP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CSPP1 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	cellular components co-occuring with CSPP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CSPP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CSPP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CSPP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with CSPP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CSPP1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CSPP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CSPP1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CSPP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CSPP1 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 CSPP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CSPP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CSPP1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CSPP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CSPP1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CSPP1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.