GIPC1 Gene

Name	GIPC PDZ domain containing family, member 1
Description	GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GIPC1 is a multifunctional PDZ‐domain–containing adaptor protein that links transmembrane receptors to intracellular trafficking and signaling pathways. It functions as a critical connector between motor proteins (such as myosin VI) and endocytic vesicles, thereby facilitating receptor internalization and recycling. For example, through its RRL motif, GIPC1 couples myosin VI to uncoated endocytic vesicles, a process essential for the internalization of receptors such as megalin and the luteinizing hormone receptor, ultimately ensuring proper receptor targeting and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, GIPC1 modulates signal transduction by associating with key receptors. In neurons, GIPC1 forms a complex with myosin VI and the TrkB receptor to mediate brain‐derived neurotrophic factor–induced facilitation of long‐term potentiation, highlighting its role in presynaptic function and synaptic plasticity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In the cardiovascular system, GIPC1 interacts with the carboxyl termini of receptors such as the β1‐adrenergic receptor, thereby selectively regulating receptor–mediated activation of downstream effectors like ERK1/2 without affecting receptor internalization or Gs–mediated cyclic AMP generation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, the role of GIPC1 extends to the regulation of tumor cell behavior. Its involvement in the neuropilin‐1/GIPC1 axis contributes to growth factor–mediated signaling pathways that promote tumor progression and angiogenesis, as demonstrated in glioblastoma models where suppression of this pathway reduces proliferation, migration, and tumor vascularization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, genetic alterations affecting GIPC1 have been implicated in human disease. Specifically, repeat expansions in the 5′ untranslated region of GIPC1 have been linked to oculopharyngodistal myopathy, supporting a role for deregulated GIPC1 expression or function in neuromuscular pathology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, GIPC1 serves as an essential adaptor that not only orchestrates receptor trafficking through its interactions with motor proteins and endocytic machinery but also modulates diverse receptor-mediated signaling cascades in neuronal, cardiovascular, and cancer cells.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Thomas W Chittenden, Filip Claes, Anthony A Lanahan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Selective regulation of arterial branching morphogenesis by synectin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2006.03.012"}], "href": "https://doi.org/10.1016/j.devcel.2006.03.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16740480"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16740480"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Samia N Naccache, Tama Hasson, Arie Horowitz "}, {"type": "b", "children": [{"type": "t", "text": "Binding of internalized receptors to the PDZ domain of GIPC/synectin recruits myosin VI to endocytic vesicles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0605317103"}], "href": "https://doi.org/10.1073/pnas.0605317103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16908842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16908842"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Takashi Hirakawa, Colette Galet, Mikiko Kishi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GIPC binds to the human lutropin receptor (hLHR) through an unusual PDZ domain binding motif, and it regulates the sorting of the internalized human choriogonadotropin and the density of cell surface hLHR."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M306557200"}], "href": "https://doi.org/10.1074/jbc.M306557200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14507927"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14507927"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hiroko Yano, Ipe Ninan, Hong Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BDNF-mediated neurotransmission relies upon a myosin VI motor complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nn1730"}], "href": "https://doi.org/10.1038/nn1730"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16819522"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16819522"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Liaoyuan A Hu, Wei Chen, Negin P Martin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GIPC interacts with the beta1-adrenergic receptor and regulates beta1-adrenergic receptor-mediated ERK activation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M212352200"}], "href": "https://doi.org/10.1074/jbc.M212352200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12724327"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12724327"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Guilong Zhang, Lukui Chen, Ahsan Ali Khan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "miRNA-124-3p/neuropilin-1(NRP-1) axis plays an important role in mediating glioblastoma growth and angiogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.31329"}], "href": "https://doi.org/10.1002/ijc.31329"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29457830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29457830"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jianwen Deng, Jiaxi Yu, Pidong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2020.04.011"}], "href": "https://doi.org/10.1016/j.ajhg.2020.04.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32413282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32413282"}]}]}]}
Synonyms	TIP-2, SYNECTIN, GIPC, NIP, GLUT1CBP, RGS19IP1, SYNECTIIN, SEMCAP, IIP-1, C19ORF3, HS.6454
Proteins	GIPC1_HUMAN
NCBI Gene ID	10755
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GIPC1 has 6,954 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 125 datasets.

Click the + buttons to view associations for GIPC1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with GIPC1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GIPC1 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 GIPC1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GIPC1 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 GIPC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GIPC1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GIPC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GIPC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GIPC1 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 GIPC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing GIPC1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GIPC1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GIPC1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GIPC1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GIPC1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GIPC1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with GIPC1 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 GIPC1 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 GIPC1 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 GIPC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GIPC1 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 GIPC1 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 GIPC1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GIPC1 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 GIPC1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with GIPC1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with GIPC1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of GIPC1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with GIPC1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.