BLTP1 Gene

Name	bridge-like lipid transfer protein family member 1
Description	This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent genetic studies have implicated BLTP1 (formerly known as KIAA1109) as an important susceptibility locus in autoimmune disease. Common single‐nucleotide polymorphisms (SNPs) in the BLTP1–TENR–IL2–IL21 gene region have been robustly associated with celiac disease, type 1 diabetes, and rheumatoid arthritis, indicating that genetic variation in this region can modulate immune responses and predispose individuals to a range of autoimmune disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its links with immune dysregulation, loss-of-function and hypomorphic variants in BLTP1 have been found to cause Alkuraya-Kučinskas syndrome, an autosomal-recessive multisystem disorder. Affected individuals exhibit severe brain malformations, arthrogryposis, clubfoot, and global developmental delay, with more severe mutations being incompatible with life. Studies in model organisms provide evidence that BLTP1 plays a critical role in normal brain and organ development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDespite these significant genetic and clinical findings, the precise molecular function of BLTP1 remains largely uncharacterized. Current research is focused on unraveling the biochemical and cellular mechanisms by which BLTP1 contributes to immune regulation and developmental processes. Improved understanding of BLTP1 function may ultimately yield novel therapeutic targets for both autoimmune disorders and developmental syndromes.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "David A van Heel, Lude Franke, Karen A Hunt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng2058"}], "href": "https://doi.org/10.1038/ng2058"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17558408"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17558408"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Alexandra Zhernakova, Behrooz Z Alizadeh, Marianna Bevova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/522037"}], "href": "https://doi.org/10.1086/522037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17999365"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17999365"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jade E Hollis-Moffatt, Michael Chen-Xu, Ruth Topless, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arthritis Res Ther (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/ar3053"}], "href": "https://doi.org/10.1186/ar3053"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20553587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20553587"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Dorra Bouzid, Hajer Fourati, Ali Amouri, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11033-014-3596-5"}], "href": "https://doi.org/10.1007/s11033-014-3596-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25037274"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25037274"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2017.12.002"}], "href": "https://doi.org/10.1016/j.ajhg.2017.12.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29290337"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29290337"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Wietse In Het Panhuis, Anastasia Tsaalbi-Shtylik, Milena Schönke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rev1 deficiency induces replication stress to cause metabolic dysfunction differently in males and females."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Endocrinol Metab (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpendo.00357.2021"}], "href": "https://doi.org/10.1152/ajpendo.00357.2021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35156394"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35156394"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anna Uhrova Meszarosova, Jana Lastuvkova, Ladislava Rennerova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Dysmorphol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MCD.0000000000000335"}], "href": "https://doi.org/10.1097/MCD.0000000000000335"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32657846"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32657846"}]}]}]}
NCBI Gene ID	84162
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BLTP1 has 2,173 functional associations with biological entities spanning 5 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 30 datasets.

Click the + buttons to view associations for BLTP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BLTP1 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 BLTP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of BLTP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with BLTP1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of BLTP1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BLTP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing BLTP1 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 BLTP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	GO Biological Process Annotations 2025	biological processes involving BLTP1 gene from the curated GO Biological Process Annotations2025 dataset.
	GO Cellular Component Annotations 2025	cellular components containing BLTP1 protein from the curated GO Cellular Component Annotations 2025 dataset.
	GO Molecular Function Annotations 2025	molecular functions performed by BLTP1 gene from the curated GO Molecular Function Annotations 2025 dataset.
	GTEx Tissue Gene Expression Profiles 2023	tissues with high or low expression of BLTP1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
	GTEx Tissue-Specific Aging Signatures	tissue samples with high or low expression of BLTP1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
	GWAS Catalog SNP-Phenotype Associations 2025	phenotypes associated with BLTP1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
	IMPC Knockout Mouse Phenotypes	phenotypes of mice caused by BLTP1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
	JASPAR Predicted Human Transcription Factor Targets 2025	transcription factors regulating expression of BLTP1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
	JASPAR Predicted Mouse Transcription Factor Targets 2025	transcription factors regulating expression of BLTP1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
	Kinase Library Tyrosine Kinome Atlas	kinases that phosphorylate BLTP1 protein from the Kinase Library Tyrosine Kinome Atlas dataset.
	LINCS L1000 CMAP Chemical Perturbation Consensus Signatures	small molecule perturbations changing expression of BLTP1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
	Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures	gene perturbations changing expression of BLTP1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset.
	Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures	gene perturbations changing expression of BLTP1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset.
	Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures	gene perturbations changing expression of BLTP1 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset.
	Rummagene Transcription Factor Associations 2026	transcription factors regulating expression of BLTP1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
	RummaGEO Drug Perturbation Signatures	drug perturbations changing expression of BLTP1 gene from the RummaGEO Drug Perturbation Signatures dataset.
	RummaGEO Gene Perturbation Signatures	gene perturbations changing expression of BLTP1 gene from the RummaGEO Gene Perturbation Signatures dataset.
	Sci-Plex Drug Perturbation Signatures	drug perturbations changing expression of BLTP1 gene from the Sci-Plex Drug Perturbation Signatures dataset.
	SynGO Synaptic Gene Annotations	synaptic terms associated with BLTP1 gene from the SynGO Synaptic Gene Annotations dataset.
	Tahoe Therapeutics Tahoe 100M Perturbation Atlas	drug perturbations changing expression of BLTP1 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset.
	TISSUES Curated Tissue Protein Expression Evidence Scores 2025	tissues with high expression of BLTP1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
	TISSUES Experimental Tissue Protein Expression Evidence Scores 2025	tissues with high expression of BLTP1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
	TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025	tissues co-occuring with BLTP1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.