AFG3L1P Gene

HGNC Family	ATPases
Name	AFG3-like AAA ATPase 1, pseudogene
Description	Predicted to be involved in protein processing. Predicted to act upstream of or within cristae formation; mitochondrial fusion; and mitochondrial protein processing. Predicted to be located in mitochondrial inner membrane. Predicted to be part of m-AAA complex. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nAFG3L1, a member of the ATP‐dependent zinc metalloprotease family homologous to the known paraplegin encoded by SPG7, is expressed as four distinct mRNA isoforms in humans; however, these transcripts are not translated, suggesting that in humans the gene functions as a pseudogene (AFG3L1P). In contrast, the mouse orthologue, Afg3l1, encodes a protein that localizes to the mitochondria and shares strong sequence similarity with paraplegin and related family members, implicating its involvement in mitochondrial protein quality control and maintenance. These findings not only expand our understanding of the evolutionary conservation of mitochondrial metalloproteases but also hint at potential broader roles in neurodegenerative disorders where mitochondrial dysfunction is a key factor."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "G Kremmidiotis, A E Gardner, C Settasatian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1006/geno.2001.6560"}], "href": "https://doi.org/10.1006/geno.2001.6560"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11549317"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11549317"}]}]}]}
Synonyms	AFG3L1, AFG3
NCBI Gene ID	172
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

AFG3L1P has 2,645 functional associations with biological entities spanning 7 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 42 datasets.

Click the + buttons to view associations for AFG3L1P from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

AFG3L1P Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by AFG3L1P gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AFG3L1P gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of AFG3L1P 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 AFG3L1P 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 AFG3L1P gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AFG3L1P 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 AFG3L1P 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 AFG3L1P 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 AFG3L1P gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AFG3L1P gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of AFG3L1P gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of AFG3L1P gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with AFG3L1P gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with AFG3L1P gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at AFG3L1P 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 AFG3L1P gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of AFG3L1P 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 AFG3L1P from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with AFG3L1P gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with AFG3L1P gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing AFG3L1P from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of AFG3L1P gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of AFG3L1P gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of AFG3L1P gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
	GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations	transcription factor perturbations changing expression of AFG3L1P gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Viral Infections	virus perturbations changing expression of AFG3L1P gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
	GTEx Tissue Gene Expression Profiles	tissues with high or low expression of AFG3L1P gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
	GTEx Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of AFG3L1P gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
	GWAS Catalog SNP-Phenotype Associations	phenotypes associated with AFG3L1P gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
	GWASdb SNP-Disease Associations	diseases associated with AFG3L1P gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
	GWASdb SNP-Phenotype Associations	phenotypes associated with AFG3L1P gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
	Hub Proteins Protein-Protein Interactions	interacting hub proteins for AFG3L1P from the curated Hub Proteins Protein-Protein Interactions dataset.
	JASPAR Predicted Transcription Factor Targets	transcription factors regulating expression of AFG3L1P gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
	Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles	cell lines with high or low copy number of AFG3L1P 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 AFG3L1P gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset.
	KnockTF Gene Expression Profiles with Transcription Factor Perturbations	transcription factor perturbations changing expression of AFG3L1P gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
	LOCATE Curated Protein Localization Annotations	cellular components containing AFG3L1P protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.
	LOCATE Predicted Protein Localization Annotations	cellular components predicted to contain AFG3L1P protein from the LOCATE Predicted Protein Localization Annotations dataset.
	MotifMap Predicted Transcription Factor Targets	transcription factors regulating expression of AFG3L1P gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
	Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles	cell types and tissues with high or low DNA methylation of AFG3L1P gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
	Roadmap Epigenomics Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at AFG3L1P gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
	TCGA Signatures of Differentially Expressed Genes for Tumors	tissue samples with high or low expression of AFG3L1P gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.