NPIPA5 Gene

Name nuclear pore complex interacting protein family, member A5
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent studies have identified a CNS‐specific transcriptional corepressor – a member of the SKI/Sno family – that is selectively expressed in the developing cerebellum. This gene is activated in postmitotic neural progenitors and subsequently becomes a reliable marker for emerging and mature Purkinje cells, as its high expression is restricted to these neurons throughout development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctional analyses demonstrate that this corepressor is essential for the proper differentiation of Purkinje cells. Loss‐of‐function experiments reveal that, although initial cell fate specification may occur, a subset of cells displays mixed identities—including aberrant expression of interneuron markers—and fails to fully induce key Purkinje cell marker genes. Additionally, deficient activity of this factor compromises neuronal polarization, migration, dendritic arborization, and the selection and maintenance of the appropriate transmitter phenotype, effects that are at least in part mediated by its regulation of the sonic hedgehog (Shh) pathway through suppression of BMP signaling. Chromatin immunoprecipitation assays further indicate that it binds directly to promoters of several Purkinje cell‐selective genes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional evidence from genetic mapping and comparative evolutionary studies has broadened the view of this gene family’s function. In a genome-wide association study, a genomic interval in the vicinity of this gene was implicated as a candidate underlying female infertility in mice, suggesting roles beyond cerebellar development. Meanwhile, transgenic and biochemical experiments comparing different family members have uncovered distinct, evolutionarily conserved functions that point to potential roles in TGF‑β and insulin signaling, providing a framework for future research into both cerebellar and systemic developmental processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yasuko Minaki, Tomoya Nakatani, Eri Mizuhara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene Expr Patterns (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gep.2008.04.004"}], "href": "https://doi.org/10.1016/j.gep.2008.04.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18522874"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18522874"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Baiping Wang, Wilbur Harrison, Paul A Overbeek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Development (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dev.067264"}], "href": "https://doi.org/10.1242/dev.067264"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21937600"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21937600"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Tomoya Nakatani, Yasuko Minaki, Minoru Kumai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The c-Ski family member and transcriptional regulator Corl2/Skor2 promotes early differentiation of cerebellar Purkinje cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ydbio.2014.01.016"}], "href": "https://doi.org/10.1016/j.ydbio.2014.01.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24491816"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24491816"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ji-Long Liu, Tong-Song Wang, Miao Zhao "}, {"type": "b", "children": [{"type": "t", "text": "Genome-Wide Association Mapping for Female Infertility in Inbred Mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "G3 (Bethesda) (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1534/g3.116.031575"}], "href": "https://doi.org/10.1534/g3.116.031575"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27449513"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27449513"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Michael J Stinchfield, Keiji Miyazawa, Stuart J Newfeld "}, {"type": "b", "children": [{"type": "t", "text": "Transgenic Analyses in Drosophila Reveal That mCORL1 Is Functionally Distinct from mCORL2 and dCORL."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "G3 (Bethesda) (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1534/g3.119.400647"}], "href": "https://doi.org/10.1534/g3.119.400647"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31530634"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31530634"}]}]}]}
Proteins NPIA5_HUMAN
NCBI Gene ID 100288332
API
Download Associations
Predicted Functions View NPIPA5's ARCHS4 Predicted Functions.
Co-expressed Genes View NPIPA5's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View NPIPA5's ARCHS4 Predicted Functions.

Functional Associations

NPIPA5 has 1,736 functional associations with biological entities spanning 7 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 28 datasets.

Click the + buttons to view associations for NPIPA5 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of NPIPA5 gene relative to other tissues from the Allen Brain Atlas Adult Human 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 NPIPA5 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 Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of NPIPA5 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with NPIPA5 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of NPIPA5 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with NPIPA5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with NPIPA5 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with NPIPA5 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 NPIPA5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of NPIPA5 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GTEx eQTL 2025 SNPs regulating expression of NPIPA5 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of NPIPA5 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of NPIPA5 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of NPIPA5 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
HPA Cell Line Gene Expression Profiles cell lines with high or low expression of NPIPA5 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of NPIPA5 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of NPIPA5 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of NPIPA5 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for NPIPA5 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of NPIPA5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of NPIPA5 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles cell lines with high or low expression of NPIPA5 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of NPIPA5 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of NPIPA5 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of NPIPA5 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of NPIPA5 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of NPIPA5 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 NPIPA5 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.