LOC102724023 Gene

Name ES1 protein homolog, mitochondrial
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although LOC102724023 remains a relatively uncharacterized locus, the collective evidence from a broad range of studies focused on centrosome integrity, centriole maturation, and ciliogenesis allows one to speculate that its gene product may play a role in these fundamental processes. Many recent investigations have delineated the critical steps of centrosomal protein recruitment and ciliary vesicle docking—processes that ensure proper microtubule organization, centriole duplication, and primary cilium assembly—and disruptions of these steps have been implicated in developmental disorders and tumor progression. For example, studies characterizing proteins such as NEDD1, CEP152, and Cep164 demonstrate that appropriate recruitment of components necessary for microtubule nucleation and centriole overduplication is indispensable for accurate cell cycle progression and ciliogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In parallel, analyses of proteins that orchestrate vesicular docking and axoneme extension—such as Cep164, CP110/CEP290 complexes and pericentrin‐associated factors—have established that regulated recruitment of these factors is essential for initiating and maintaining ciliary structure."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": " Moreover, studies of centriolar components in the context of ciliopathies have highlighted the importance of proteins such as CEP41, hPOC5, and MARK4 in controlling centriole length and the early steps of axoneme extension (for example."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "11"}]}, {"type": "t", "text": " Finally, in vivo models underscore that defects in centrosome–cilium coupling, as seen for instance with aberrant CP110 activity and compromised distal appendage formation, lead to multisystem developmental anomalies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In this context, LOC102724023 may encode a protein that functions either as a scaffold or regulatory factor to coordinate the recruitment, stabilization, or timely disassembly of protein complexes at the centrosome, thereby ensuring correct centriole duplication and subsequent ciliogenesis. Disruption of such activity could be expected to compromise microtubule organization, basal body maturation, and ultimately cilium formation, with downstream effects on cell signaling pathways (for example, Sonic hedgehog signaling) known to be critical during development and implicated in oncogenic transformation. Thus, while direct functional studies on LOC102724023 are currently lacking, the convergence of data from studies of centrosomal and ciliary proteins suggests that this locus is a promising candidate for further investigation in the context of cell cycle regulation, tissue morphogenesis, and human disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Laurence Haren, Marie-Hélène Remy, Ingrid Bazin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NEDD1-dependent recruitment of the gamma-tubulin ring complex to the centrosome is necessary for centriole duplication and spindle assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200510028"}], "href": "https://doi.org/10.1083/jcb.200510028"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16461362"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16461362"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Onur Cizmecioglu, Marc Arnold, Ramona Bahtz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201007107"}], "href": "https://doi.org/10.1083/jcb.201007107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21059844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21059844"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Emily M Hatch, Anita Kulukian, Andrew J Holland, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cep152 interacts with Plk4 and is required for centriole duplication."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201006049"}], "href": "https://doi.org/10.1083/jcb.201006049"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21059850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21059850"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Kerstin N Schmidt, Stefanie Kuhns, Annett Neuner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201202126"}], "href": "https://doi.org/10.1083/jcb.201202126"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23253480"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23253480"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "William Y Tsang, Carine Bossard, Hemant Khanna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2008.07.004"}], "href": "https://doi.org/10.1016/j.devcel.2008.07.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18694559"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18694559"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Agata Jurczyk, Adam Gromley, Sambra Redick, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200405023"}], "href": "https://doi.org/10.1083/jcb.200405023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15337773"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15337773"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ji Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.1078"}], "href": "https://doi.org/10.1038/ng.1078"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22246503"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22246503"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Juliette Azimzadeh, Polla Hergert, Annie Delouvée, et al. "}, {"type": "b", "children": [{"type": "t", "text": "hPOC5 is a centrin-binding protein required for assembly of full-length centrioles."}]}, {"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.200808082"}], "href": "https://doi.org/10.1083/jcb.200808082"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19349582"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19349582"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Lidia Hurtado, Cristina Caballero, Maria P Gavilan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disconnecting the Golgi ribbon from the centrosome prevents directional cell migration and ciliogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201011014"}], "href": "https://doi.org/10.1083/jcb.201011014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21606206"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21606206"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Wenxiang Fu, Lei Wang, Sehyun Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role for the IFT-A Complex in Selective Transport to the Primary Cilium."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2016.10.018"}], "href": "https://doi.org/10.1016/j.celrep.2016.10.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27806291"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27806291"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Stefanie Kuhns, Kerstin N Schmidt, Jürgen Reymann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The microtubule affinity regulating kinase MARK4 promotes axoneme extension during early ciliogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201206013"}], "href": "https://doi.org/10.1083/jcb.201206013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23400999"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23400999"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1005575"}], "href": "https://doi.org/10.1371/journal.pgen.1005575"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26485645"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26485645"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Sharda Prasad Yadav, Neel Kamal Sharma, Chunqiao Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Development (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dev.130120"}], "href": "https://doi.org/10.1242/dev.130120"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26965371"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26965371"}]}]}]}
Synonyms GATD3B, KNP-I
NCBI Gene ID 102724023
API
Download Associations
Predicted Functions View LOC102724023's ARCHS4 Predicted Functions.
Co-expressed Genes View LOC102724023's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View LOC102724023's ARCHS4 Predicted Functions.

Functional Associations

LOC102724023 has 6,383 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 28 datasets.

Click the + buttons to view associations for LOC102724023 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 LOC102724023 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 LOC102724023 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CM4AI U2OS Cell Map Protein Localization Assemblies assemblies containing LOC102724023 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with LOC102724023 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with LOC102724023 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with LOC102724023 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GO Biological Process Annotations 2025 biological processes involving LOC102724023 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing LOC102724023 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by LOC102724023 gene from the curated GO Molecular Function Annotations 2025 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with LOC102724023 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for LOC102724023 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of LOC102724023 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 LOC102724023 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
KEGG Pathways 2026 pathways involving LOC102724023 protein from the KEGG Pathways 2026 dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of LOC102724023 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of LOC102724023 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
ProteomicsDB Cell Type and Tissue Protein Expression Profiles cell types and tissues with high or low expression of LOC102724023 protein relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset.
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of LOC102724023 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 LOC102724023 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 LOC102724023 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 LOC102724023 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of LOC102724023 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of LOC102724023 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of LOC102724023 gene from the Sci-Plex Drug Perturbation Signatures dataset.
Tahoe Therapeutics Tahoe 100M Perturbation Atlas drug perturbations changing expression of LOC102724023 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of LOC102724023 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 LOC102724023 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 LOC102724023 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.