| HGNC Family | RNA binding motif containing (RBM) |
| Name | RNA binding motif protein, Y-linked, family 1, member A1 |
| Description | This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRBMY1A1 is a Y‐chromosome–encoded RNA‐binding protein that plays a critical role in the male germline by regulating pre–messenger RNA splicing events essential for normal spermatogenesis. Its proper expression in testicular germ cells is evidenced by studies showing that loss or reduced expression of RBMY transcripts correlates with impaired sperm production and conditions such as Sertoli cell–only syndrome, underscoring its pivotal role in germ cell development (<!-- PMID 11869379 -->."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Detailed structural analyses reveal that the RNA recognition motif (RRM) of RBMY1A1 binds specific RNA stem–loop structures via two distinct modes—one in which the β–sheet surface engages the RNA loop in a sequence–specific fashion and a second unique mechanism involving insertion of the β2–β3 loop into the RNA major groove—thereby enabling the precise regulation of alternative splicing events in the testis (<!-- PMID 17318228 -->."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Complementary findings indicate that aberrations in RBMY expression—whether diminished in the context of spermatogenic failure or ectopically activated—are associated with pathological outcomes. For instance, its reduced expression in certain testicular biopsies further supports its necessary function in the germline (<!-- PMID 17881721 -->"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", and its ability to interact with splicing regulators like components of the exon junction complex and other splicing factors (e.g. 9G8 and Tra2‐β) confirms its role in modulating exon inclusion of testis–specific transcripts (<!-- PMID 20016065 -->."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, when aberrantly re–expressed in somatic cells such as hepatocytes, RBMY1A1 acquires oncogenic properties; for example, its ectopic, predominantly cytoplasmic expression in male hepatocellular carcinoma has been linked to the enhancement of cancer stem cell features including increased self–renewal, proliferation, chemoresistance, and tumor growth through mechanisms involving increased inactivation of GSK–3β and subsequent stabilization and nuclear translocation of β–catenin (<!-- PMID 15184870 -->"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", <!-- PMID 26185016 -->."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "A Friel, J A Houghton, M Glennon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Androl (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1046/j.1365-2605.2002.00326.x"}], "href": "https://doi.org/10.1046/j.1365-2605.2002.00326.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11869379"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11869379"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Lenka Skrisovska, Cyril F Bourgeois, Richard Stefl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Rep (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.embor.7400910"}], "href": "https://doi.org/10.1038/sj.embor.7400910"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17318228"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17318228"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "M C Lardone, D A Parodi, R Valdevenito, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Hum Reprod (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/molehr/gam057"}], "href": "https://doi.org/10.1093/molehr/gam057"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17881721"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17881721"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Natacha Dreumont, Cyril F Bourgeois, Fabrice Lejeune, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human RBMY regulates germline-specific splicing events by modulating the function of the serine/arginine-rich proteins 9G8 and Tra2-{beta}."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.055889"}], "href": "https://doi.org/10.1242/jcs.055889"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20016065"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20016065"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Daw-Jen Tsuei, Hey-Chi Hsu, Po-Huang Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RBMY, a male germ cell-specific RNA-binding protein, activated in human liver cancers and transforms rodent fibroblasts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1207773"}], "href": "https://doi.org/10.1038/sj.onc.1207773"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15184870"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15184870"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Huey-Huey Chua, Daw-Jen Tsuei, Po-Huang Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RBMY, a novel inhibitor of glycogen synthase kinase 3β, increases tumor stemness and predicts poor prognosis of hepatocellular carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.27996"}], "href": "https://doi.org/10.1002/hep.27996"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26185016"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26185016"}]}]}]}
|
| Synonyms | YRRM1, RBMY, RBMY1C, RBM2 |
| Proteins | RBY1A_HUMAN |
| NCBI Gene ID | 5940 |
| API | |
| Download Associations | |
| Predicted Functions |
 |
| Co-expressed Genes |
|
| Expression in Tissues and Cell Lines |
|
RBMY1A1 has 941 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 47 datasets.
Click the + buttons to view associations for RBMY1A1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of RBMY1A1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of RBMY1A1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with RBMY1A1 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 RBMY1A1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of RBMY1A1 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 RBMY1A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing RBMY1A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with RBMY1A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with RBMY1A1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with RBMY1A1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with RBMY1A1 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 RBMY1A1 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 RBMY1A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with RBMY1A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of RBMY1A1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of RBMY1A1 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 RBMY1A1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with RBMY1A1 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 RBMY1A1 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of RBMY1A1 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 RBMY1A1 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 RBMY1A1 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 RBMY1A1 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 RBMY1A1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving RBMY1A1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving RBMY1A1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing RBMY1A1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing RBMY1A1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by RBMY1A1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by RBMY1A1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of RBMY1A1 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 RBMY1A1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of RBMY1A1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of RBMY1A1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for RBMY1A1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of RBMY1A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate RBMY1A1 protein from the Kinase Library Serine Threonine Atlas dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of RBMY1A1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing RBMY1A1 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 RBMY1A1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for RBMY1A1 from the Pathway Commons Protein-Protein Interactions dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of RBMY1A1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs | drug perturbations changing phosphorylation of RBMY1A1 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of RBMY1A1 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 RBMY1A1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of RBMY1A1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with RBMY1A1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
