USP17L7 Gene

Name	ubiquitin specific peptidase 17-like family member 7
Description	Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe photoreceptor‐specific protein encoded by C2orf71, also known as PCARE, plays a crucial role at the base of the photoreceptor outer segment. It does so by interacting with actin regulatory proteins – notably by recruiting the Arp2/3 complex activator WASF3 to the primary cilium – thereby driving an actin‐dependent expansion of the ciliary membrane that initiates new disk formation. Perturbation of this actin dynamics, whether by pharmacologic inhibition, siRNA knock‐down of actin regulators, or the presence of disease‐associated mutations in PCARE, disrupts normal outer segment biogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "Disruption of the gene in mouse models confirms its essential role in photoreceptor integrity. Genetic mapping and functional ablation studies of the mouse homolog (BC027072) reveal that loss of C2orf71 leads to severe, early‐onset retinal degeneration characterized by disorganized outer segments, low levels of key phototransduction proteins, and marked visual impairment. These findings underscore that proper development and maintenance of the photoreceptor outer segment critically depend on the function of PCARE."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Julio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1903125117"}], "href": "https://doi.org/10.1073/pnas.1903125117"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32312818"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32312818"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Brian M Kevany, Ning Zhang, Beata Jastrzebska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddv025"}], "href": "https://doi.org/10.1093/hmg/ddv025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25616964"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25616964"}]}]}]}
Proteins	U17L7_HUMAN
NCBI Gene ID	392197
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

USP17L7 has 527 functional associations with biological entities spanning 6 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 29 datasets.

Click the + buttons to view associations for USP17L7 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

USP17L7 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of USP17L7 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of USP17L7 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of USP17L7 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing USP17L7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with USP17L7 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 USP17L7 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	DisGeNET Gene-Disease Associations	diseases associated with USP17L7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	GO Biological Process Annotations 2015	biological processes involving USP17L7 gene from the curated GO Biological Process Annotations 2015 dataset.
	GO Biological Process Annotations 2023	biological processes involving USP17L7 gene from the curated GO Biological Process Annotations 2023 dataset.
	GO Biological Process Annotations 2025	biological processes involving USP17L7 gene from the curated GO Biological Process Annotations2025 dataset.
	GO Cellular Component Annotations 2015	cellular components containing USP17L7 protein from the curated GO Cellular Component Annotations 2015 dataset.
	GO Cellular Component Annotations 2023	cellular components containing USP17L7 protein from the curated GO Cellular Component Annotations 2023 dataset.
	GO Cellular Component Annotations 2025	cellular components containing USP17L7 protein from the curated GO Cellular Component Annotations 2025 dataset.
	GO Molecular Function Annotations 2015	molecular functions performed by USP17L7 gene from the curated GO Molecular Function Annotations 2015 dataset.
	GO Molecular Function Annotations 2023	molecular functions performed by USP17L7 gene from the curated GO Molecular Function Annotations 2023 dataset.
	GO Molecular Function Annotations 2025	molecular functions performed by USP17L7 gene from the curated GO Molecular Function Annotations 2025 dataset.
	GTEx Tissue Gene Expression Profiles	tissues with high or low expression of USP17L7 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 USP17L7 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
	InterPro Predicted Protein Domain Annotations	protein domains predicted for USP17L7 protein from the InterPro Predicted Protein Domain Annotations dataset.
	JASPAR Predicted Human Transcription Factor Targets 2025	transcription factors regulating expression of USP17L7 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 USP17L7 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
	LOCATE Predicted Protein Localization Annotations	cellular components predicted to contain USP17L7 protein from the LOCATE Predicted Protein Localization Annotations dataset.
	NURSA Protein Complexes	protein complexs containing USP17L7 protein recovered by IP-MS from the NURSA Protein Complexes dataset.
	Pathway Commons Protein-Protein Interactions	interacting proteins for USP17L7 from the Pathway Commons Protein-Protein Interactions dataset.
	Rummagene Transcription Factor Associations 2026	transcription factors regulating expression of USP17L7 gene from the Rummagene Transcription Factor Associations 2026 dataset.
	RummaGEO Drug Perturbation Signatures	drug perturbations changing expression of USP17L7 gene from the RummaGEO Drug Perturbation Signatures dataset.
	RummaGEO Gene Perturbation Signatures	gene perturbations changing expression of USP17L7 gene from the RummaGEO Gene Perturbation Signatures dataset.
	Tabula Sapiens Gene-Cell Associations	cell types with high or low expression of USP17L7 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.
	TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025	tissues co-occuring with USP17L7 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.