ERLIN1 Gene

Name	ER lipid raft associated 1
Description	The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ERLIN1 is an endoplasmic reticulum–resident protein that localizes to specialized, detergent‐resistant “lipid raft” microdomains within the ER membrane."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Together with its close paralog ERLIN2, ERLIN1 assembles into ~2‐MDa complexes that are critical for multiple ER functions. Structural studies indicate that specific hydrophobic residues in its “assembly domain” are essential for higher order oligomerization"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", a formation that underpins its role in protein quality control. In particular, the ERLIN1/2 complex participates in the endoplasmic reticulum–associated degradation (ERAD) pathway by selectively recognizing activated inositol 1,4,5‐trisphosphate receptors, thereby mediating their ubiquitination and extraction from the ER membrane."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Beyond its role in ERAD, ERLIN1 has been implicated in the regulation of cholesterol homeostasis; it associates with key factors such as SREBP, helping to stabilize the SREBP–Scap–Insig complex and thereby influencing the transcriptional control of lipid biosynthetic genes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Genetic studies further suggest that variation in ERLIN1 contributes to altered serum liver enzyme levels and susceptibility to nonalcoholic fatty liver disease, as evidenced by its inclusion in liver enzyme–associated gene clusters and significant missense variant findings."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": " Moreover, rare deleterious mutations in ERLIN1 have been associated with neurodegenerative conditions such as a slowly progressive form of amyotrophic lateral sclerosis, underscoring its importance in neuronal homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " In the context of immune signaling, ERLIN1 is recruited to cytosolic complexes involving RIPK2 upon activation of pattern recognition receptors, suggesting a role in modulating innate immune responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " In addition, ERLIN1 supports the replication of certain viruses; for instance, RNA interference–mediated suppression of ERLIN1 impairs hepatitis C virus RNA replication and virus production, indicating that it acts as a host factor required at early and late stages of the viral life cycle."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Finally, ERLIN1 has also been identified among estrogen‐responsive targets in breast cancer cells, where its modulation by specific microRNAs affects cellular proliferation, and small‐molecule studies have targeted its function with compounds such as those based on the KE04 scaffold."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Duncan T Browman, Mary E Resek, Laura D Zajchowski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.03060"}], "href": "https://doi.org/10.1242/jcs.03060"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16835267"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16835267"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Deepa Pednekar, Yuan Wang, Tatyana V Fedotova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clustered hydrophobic amino acids in amphipathic helices mediate erlin1/2 complex assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2011.10.032"}], "href": "https://doi.org/10.1016/j.bbrc.2011.10.032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22020079"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22020079"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Justine P Lu, Yuan Wang, Danielle A Sliter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.251983"}], "href": "https://doi.org/10.1074/jbc.M111.251983"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21610068"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21610068"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Richard J H Wojcikiewicz, Margaret M P Pearce, Danielle A Sliter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "When worlds collide: IP(3) receptors and the ERAD pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Calcium (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ceca.2009.05.002"}], "href": "https://doi.org/10.1016/j.ceca.2009.05.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19709743"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19709743"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Michael D Huber, Paul W Vesely, Kaustuv Datta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201305076"}], "href": "https://doi.org/10.1083/jcb.201305076"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24217618"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24217618"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Xin Yuan, Dawn Waterworth, John R B Perry, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2008.09.012"}], "href": "https://doi.org/10.1016/j.ajhg.2008.09.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18940312"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18940312"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Aya Kitamoto, Takuya Kitamoto, Takahiro Nakamura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of polymorphisms in GCKR and TRIB1 with nonalcoholic fatty liver disease and metabolic syndrome traits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocr J (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1507/endocrj.ej14-0052"}], "href": "https://doi.org/10.1507/endocrj.ej14-0052"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24785259"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24785259"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Mary F Feitosa, Mary K Wojczynski, Kari E North, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Atherosclerosis (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.atherosclerosis.2013.01.038"}], "href": "https://doi.org/10.1016/j.atherosclerosis.2013.01.038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23477746"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23477746"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Ceren Tunca, Fulya Akçimen, Cemre Coşkun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41431-018-0107-5"}], "href": "https://doi.org/10.1038/s41431-018-0107-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29453415"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29453415"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Heidrun Steinle, Kornelia Ellwanger, Nora Mirza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "14-3-3 and erlin proteins differentially interact with RIPK2 complexes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.258137"}], "href": "https://doi.org/10.1242/jcs.258137"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34152391"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34152391"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Christina Whitten-Bauer, Josan Chung, Andoni Gómez-Moreno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Host Factor Erlin-1 is Required for Efficient Hepatitis C Virus Infection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cells (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cells8121555"}], "href": "https://doi.org/10.3390/cells8121555"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31810281"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31810281"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Sheng Tan, Keshuo Ding, Rui Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of miR-26 as a key mediator of estrogen stimulated cell proliferation by targeting CHD1, GREB1 and KPNA2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Breast Cancer Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/bcr3644"}], "href": "https://doi.org/10.1186/bcr3644"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24735615"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24735615"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "N Motohashi, M Kawase, S Saito, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Plasmid elimination and immunomodulation by 3-benzazepines in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Anticancer Res (1999)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "10697513"}], "href": "https://pubmed.ncbi.nlm.nih.gov/10697513"}]}]}]}
Synonyms	SPFH1, SPG62, KE04, KEO4, ERLIN-1, C10ORF69
Proteins	ERLN1_HUMAN
NCBI Gene ID	10613
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ERLIN1 has 8,052 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 118 datasets.

Click the + buttons to view associations for ERLIN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 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 ERLIN1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ERLIN1 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 ERLIN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ERLIN1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ERLIN1 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 ERLIN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ERLIN1 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 ERLIN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ERLIN1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of ERLIN1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ERLIN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ERLIN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ERLIN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ERLIN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ERLIN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ERLIN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ERLIN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ERLIN1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ERLIN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ERLIN1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ERLIN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ERLIN1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ERLIN1 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 ERLIN1 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 ERLIN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ERLIN1 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 ERLIN1 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 ERLIN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ERLIN1 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 ERLIN1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ERLIN1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.