SPDL1 Gene

Name	spindle apparatus coiled-coil protein 1
Description	This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSPDL1 encodes Spindly, a pivotal mitotic regulator that ensures accurate chromosome segregation by controlling spindle checkpoint signaling and kinetochore–microtubule interactions. Early studies demonstrated that Spindly is indispensable for recruiting dynein to kinetochores via direct interactions with the Rod/ZW10/Zwilch (RZZ) complex, with specific conserved motifs required for its proper localization and subsequent checkpoint silencing. In human cells, depletion or mutation of Spindly disrupts dynein recruitment, delays chromosome alignment, and leads to persistent checkpoint activity, thereby compromising the fidelity of mitosis. Moreover, post‐translational modifications—most notably farnesylation—are essential for Spindly’s kinetochore targeting and its role in effective chromosome congression, underscoring the finely tuned regulation of this protein during cell division."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its fundamental mitotic function, emerging evidence links SPDL1 to human disease. A rare missense variant in SPDL1 has been robustly associated with an elevated risk of idiopathic pulmonary fibrosis, implying that aberrations in mitotic checkpoint components may contribute to fibrotic pathogenesis. In addition, reduced expression of SPDL1 has been correlated with enhanced cell invasion, migration, and tumor progression in colorectal and oral squamous cell carcinomas, highlighting its tumor-suppressor role. Supporting this notion, interactions with deubiquitinating enzymes such as USP45 further refine Spindly’s function in cell migration, exposing novel therapeutic avenues in cancers and other diseases connected to abnormal cell division and movement."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Reto Gassmann, Andrew J Holland, Dileep Varma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Removal of Spindly from microtubule-attached kinetochores controls spindle checkpoint silencing in human cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.1886810"}], "href": "https://doi.org/10.1101/gad.1886810"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20439434"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20439434"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ying Wai Chan, Luca L Fava, Andreas Uldschmid, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitotic control of kinetochore-associated dynein and spindle orientation by human Spindly."}]}, {"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.200812167"}], "href": "https://doi.org/10.1083/jcb.200812167"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19468067"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19468067"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Marin Barisic, Bénédicte Sohm, Petra Mikolcevic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spindly/CCDC99 is required for efficient chromosome congression and mitotic checkpoint regulation."}]}, {"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.e09-04-0356"}], "href": "https://doi.org/10.1091/mbc.e09-04-0356"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20427577"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20427577"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Devinderjit K Moudgil, Nathan Westcott, Jakub K Famulski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel role of farnesylation in targeting a mitotic checkpoint protein, human Spindly, to kinetochores."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201412085"}], "href": "https://doi.org/10.1083/jcb.201412085"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25825516"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25825516"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Andrew J Holland, Rita M Reis, Sherry Niessen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Preventing farnesylation of the dynein adaptor Spindly contributes to the mitotic defects caused by farnesyltransferase inhibitors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E14-11-1560"}], "href": "https://doi.org/10.1091/mbc.E14-11-1560"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25808490"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25808490"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ryan S Dhindsa, Johan Mattsson, Abhishek Nag, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Commun Biol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s42003-021-01910-y"}], "href": "https://doi.org/10.1038/s42003-021-01910-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33758299"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33758299"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Takahiro Kodama, Teresa A Marian, Hubert Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MRTFB suppresses colorectal cancer development through regulating SPDL1 and MCAM."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1910413116"}], "href": "https://doi.org/10.1073/pnas.1910413116"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31690663"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31690663"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Claudia Conte, Eric R Griffis, Ian Hickson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "USP45 and Spindly are part of the same complex implicated in cell migration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-018-32685-8"}], "href": "https://doi.org/10.1038/s41598-018-32685-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30258100"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30258100"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jing Zheng, Tian-Ke Li, Yang Bao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Expression and clinical significance of Spindly and Bub3 in oral squamous cell carcinoma]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Shanghai Kou Qiang Yi Xue (2020)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33543222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33543222"}]}]}]}
Synonyms	CCDC99
Proteins	SPDLY_HUMAN
NCBI Gene ID	54908
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SPDL1 has 6,955 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 111 datasets.

Click the + buttons to view associations for SPDL1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SPDL1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SPDL1 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 SPDL1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SPDL1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SPDL1 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 SPDL1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SPDL1 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 SPDL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SPDL1 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 SPDL1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SPDL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SPDL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SPDL1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SPDL1 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 SPDL1 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 SPDL1 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 SPDL1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SPDL1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SPDL1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SPDL1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SPDL1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SPDL1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SPDL1 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 SPDL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SPDL1 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 SPDL1 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 SPDL1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SPDL1 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 SPDL1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SPDL1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SPDL1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.