ABCF1 Gene

HGNC Family	ATP binding cassette transporters (ABC)
Name	ATP-binding cassette, sub-family F (GCN20), member 1
Description	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ABCF1, also known as ABC50, is a unique non‐transmembrane member of the ATP‐binding cassette family that plays multifaceted roles in cell physiology. Early studies established that ABCF1 interacts with eukaryotic initiation factor 2 (eIF2) to promote accurate translation initiation—regulating start‐codon selection via ATP‐dependent activation. This role in translation has been demonstrated biochemically, using mutational analyses and structural studies that reveal a preactivation intermediate state essential for its function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond translation, ABCF1 functions as a transcriptional coactivator in embryonic stem cells. Its intrinsically disordered, low‐complexity domain mediates phase separation and engages with master pluripotency factors (OCT4 and SOX2) to drive gene expression programs that underpin self‐renewal."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In parallel, ABCF1 has been implicated in innate immune regulation. It associates with cytosolic double‐stranded DNA and interacts with DNA‐sensing components, thereby modulating inflammatory cytokine production and linking genetic variation in its region to autoimmune susceptibilities."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the oncology arena, ABCF1 is targeted by microRNA‐23a in microsatellite instable colorectal cancer, where its downregulation restores sensitivity to chemotherapeutic agents such as 5‐fluorouracil, thus contributing to drug resistance mechanisms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, ABCF1 is cleaved by initiator caspases during the early stages of apoptosis, suggesting that it may also function in the regulation of cell death pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Additional studies have noted that genomic alterations of ABCF1—as observed in rare copy number variants among dengue patients and differential expression in response to antidepressant therapy—hint at further roles in inflammatory responses and disease pathogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the diverse functions of ABCF1 in translation regulation, stem cell biology, innate immunity, apoptosis, and chemoresistance, marking it as an essential contributor to cellular homeostasis and a promising therapeutic target.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sonia Paytubi, Xuemin Wang, Yun W Lam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABC50 promotes translation initiation in mammalian cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.031625"}], "href": "https://doi.org/10.1074/jbc.M109.031625"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19570978"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19570978"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sonia Paytubi, Nicholas A Morrice, Jerome Boudeau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The N-terminal region of ABC50 interacts with eukaryotic initiation factor eIF2 and is a target for regulatory phosphorylation by CK2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20070811"}], "href": "https://doi.org/10.1042/BJ20070811"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17894550"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17894550"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Joanna D Stewart, Joanne L Cowan, Lisa S Perry, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABC50 mutants modify translation start codon selection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20141453"}], "href": "https://doi.org/10.1042/BJ20141453"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25597744"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25597744"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Lu Qu, Yan Jiang, Chongyun Cheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Crystal Structure of ATP-Bound Human ABCF1 Demonstrates a Unique Conformation of ABC Proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Structure (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.str.2018.05.019"}], "href": "https://doi.org/10.1016/j.str.2018.05.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30017566"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30017566"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Eun-Bee Choi, Munender Vodnala, Madeleine Zerbato, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP-binding cassette protein ABCF1 couples transcription and genome surveillance in embryonic stem cells through low-complexity domain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Adv (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/sciadv.abk2775"}], "href": "https://doi.org/10.1126/sciadv.abk2775"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34714667"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34714667"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mark N Lee, Matthew Roy, Shao-En Ong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of regulators of the innate immune response to cytosolic DNA and retroviral infection by an integrative approach."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Immunol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ni.2509"}], "href": "https://doi.org/10.1038/ni.2509"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23263557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23263557"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Sara M Wilcox, Hitesh Arora, Lonna Munro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of the innate immune response regulatory gene ABCF1 in mammalian embryogenesis and development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0175918"}], "href": "https://doi.org/10.1371/journal.pone.0175918"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28542262"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28542262"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xiang Li, Xiaolei Li, Daixiang Liao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elevated microRNA-23a Expression Enhances the Chemoresistance of Colorectal Cancer Cells with Microsatellite Instability to 5-Fluorouracil by Directly Targeting ABCF1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Protein Pept Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2174/138920371604150429153309"}], "href": "https://doi.org/10.2174/138920371604150429153309"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25929864"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25929864"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Seunghee Bae, Tae-Su Ha, Youngmin Yoon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide screening and identification of novel proteolytic cleavage targets of caspase-8 and -10 in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Med (2008)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18288386"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18288386"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "B P Hoh, S S Sam, S H Umi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel rare copy number variant of the ABCF1 gene identified among dengue fever patients from Peninsular Malaysia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Mol Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4238/2014.February.19.9"}], "href": "https://doi.org/10.4238/2014.February.19.9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24634119"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24634119"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Timothy R Powell, Katherine E Tansey, Gerome Breen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP-binding cassette sub-family F member 1 (ABCF1) is identified as a putative therapeutic target of escitalopram in the inflammatory cytokine pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Psychopharmacol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0269881113490329"}], "href": "https://doi.org/10.1177/0269881113490329"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23719290"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23719290"}]}]}]}
Synonyms	ABC27, ABC50
Proteins	ABCF1_HUMAN
NCBI Gene ID	23
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCF1 has 6,898 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 ABCF1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ABCF1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCF1 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 ABCF1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ABCF1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ABCF1 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 ABCF1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCF1 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 ABCF1 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 ABCF1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ABCF1 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 ABCF1 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 ABCF1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ABCF1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ABCF1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ABCF1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ABCF1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ABCF1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ABCF1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ABCF1 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 ABCF1 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 ABCF1 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 ABCF1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ABCF1 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 ABCF1 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 ABCF1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ABCF1 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 ABCF1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ABCF1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with ABCF1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.