SPATA31A6 Gene

Name SPATA31 subfamily A, member 6
Description Predicted to enable actin binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nAlthough none of the provided abstracts mention SPATA31A6 directly, their collective findings on BLOC‐1 complex components and interacting partners offer insights that may serve as a framework to infer potential functions for SPATA31A6. In one study, several subunits of BLOC‐1—including BLOS1, BLOS2, and BLOS3—were identified as key players in the biogenesis of specialized endocytic and lysosomal organelles. By coordinating membrane fusion events (via Snapin) and mediating protein–protein interactions within the complex, these components ensure proper organelle formation and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nOther reports reveal that one of these BLOC‐1 components, BLOS2, acts as a regulatory scaffold linking endolysosomal trafficking to cytoskeletal dynamics. BLOS2 interacts with actin regulatory proteins such as WASH and centrosomal proteins, integrating signals that control actin nucleation. This interplay is crucial not only for maintaining proper cellular architecture but also for facilitating dynamic processes such as organelle positioning and membrane remodeling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurthermore, studies have demonstrated that BLOS2 modulates critical signaling pathways—most notably, the Notch pathway—to regulate cellular differentiation and proliferation in both neural and hematopoietic stem cell contexts. Loss of BLOS2 disrupts endo‐lysosomal trafficking of Notch1, resulting in heightened Notch signaling that affects neuronal differentiation and stem cell homeostasis. Similar mechanistic insights were observed in fetal liver hematopoiesis, where BLOS2 helps balance HSC expansion and lineage commitment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn summary, while SPATA31A6 is not directly addressed in these abstracts, the functional roles elucidated for BLOC‐1 subunits and their interactors—in processes ranging from organelle biogenesis and cytoskeletal dynamics to Notch‐mediated cell fate decisions and gametogenesis—provide a conceptual basis. If SPATA31A6 participates in similar molecular networks or interacts with analogous protein partners, it may likewise contribute to the regulation of endolysosomal trafficking, modulation of cytoskeletal architecture, and fine‐tuning of key developmental signaling pathways.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Marta Starcevic, Esteban C Dell'Angelica "}, {"type": "b", "children": [{"type": "t", "text": "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M402513200"}], "href": "https://doi.org/10.1074/jbc.M402513200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15102850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15102850"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jlenia Monfregola, Gennaro Napolitano, Michele D'Urso, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.078501"}], "href": "https://doi.org/10.1074/jbc.M109.078501"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20308062"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20308062"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xin-Jie Zhuang, Yu-Qiang Shi, Bo Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLX2 interacting with BLOS2 is differentially expressed during mouse oocyte meiotic maturation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Cycle (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/cc.29265"}], "href": "https://doi.org/10.4161/cc.29265"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24870619"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24870619"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Wenwen Zhou, Qiuping He, Chunxia Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BLOS2 negatively regulates Notch signaling during neural and hematopoietic stem and progenitor cell development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.18108"}], "href": "https://doi.org/10.7554/eLife.18108"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27719760"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27719760"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Qiuping He, Suwei Gao, Junhua Lv, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BLOS2 maintains hematopoietic stem cells in the fetal liver via repressing Notch signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Hematol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.exphem.2017.03.002"}], "href": "https://doi.org/10.1016/j.exphem.2017.03.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28456747"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28456747"}]}]}]}
Synonyms FAM75A6
Proteins S31A6_HUMAN
NCBI Gene ID 389730
API
Download Associations
Predicted Functions View SPATA31A6's ARCHS4 Predicted Functions.
Co-expressed Genes View SPATA31A6's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View SPATA31A6's ARCHS4 Predicted Functions.

Functional Associations

SPATA31A6 has 715 functional associations with biological entities spanning 8 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 31 datasets.

Click the + buttons to view associations for SPATA31A6 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of SPATA31A6 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 SPATA31A6 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of SPATA31A6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of SPATA31A6 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing SPATA31A6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with SPATA31A6 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 SPATA31A6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with SPATA31A6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with SPATA31A6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at SPATA31A6 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 SPATA31A6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of SPATA31A6 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing SPATA31A6 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of SPATA31A6 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GO Biological Process Annotations 2015 biological processes involving SPATA31A6 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Cellular Component Annotations 2015 cellular components containing SPATA31A6 protein from the curated GO Cellular Component Annotations 2015 dataset.
GTEx eQTL 2025 SNPs regulating expression of SPATA31A6 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of SPATA31A6 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 SPATA31A6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for SPATA31A6 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of SPATA31A6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of SPATA31A6 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 SPATA31A6 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 SPATA31A6 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of SPATA31A6 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of SPATA31A6 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of SPATA31A6 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of SPATA31A6 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of SPATA31A6 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of SPATA31A6 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with SPATA31A6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.