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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RBMY1A1
RNA binding motif protein Y-linked family 1 member A1
Chromosome Y · Yq11.223
NCBI Gene: 5940Ensembl: ENSG00000234414.8HGNC: HGNC:9912UniProt: P0DJD3
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA bindingprotein bindingregulation of alternative mRNA splicing, via spliceosomemRNA splicing, via spliceosomehepatocellular carcinomaneoplasmcancersarcoma
✦AI Summary

RBMY1A1 is an RNA-binding protein located on the Y chromosome Y plays critical roles in male reproduction and RNA processing. As an RNA-binding protein, RBMY1A1 functions in pre-mRNA splicing and is required for sperm development 1. The protein acts additively with other splicing factors to regulate alternative mRNA splicing, including promotion of exon 7 inclusion in the survival motor neuron (SMN) gene 2. RBMY1A1 is expressed primarily in testicular tissue, particularly in germ cells during spermatogenesis 1. The gene originated from proto-X/Y gene pairs during mammalian sex chromosome Y and exists in multiple copies organized within Y chromosome Y 3. Copy number variation of RBMY1 genes is substantial across human populations (ranging 3-13 copies) but shows no significant association with sperm parameters in infertility cohorts 4. Clinically, RBMY1A1 expression is significantly downregulated in patients with non-obstructive azoospermia and testicular embryonal carcinomas 15. Recent evidence suggests RBMY1A1 may facilitate miRNA sorting into exosomes, affecting cancer cell-fibroblast interactions in breast cancer 6. The gene's importance is underscored by its conservation across diverse mammalian lineages, though it can be lost during Y chromosome Y in some species 7.

Sources cited
1
RBMY1A1 is expressed in testicular tissue and significantly downregulated in non-obstructive azoospermia patients; required for spermatogenesis
PMID: 26162009
2
RBMY1 gene family originated from proto-X/Y gene pairs during mammalian sex chromosome evolution and exists in ampliconic structures
PMID: 17185645
3
RBMY1 shows copy number variation (3-13 copies) across human populations with no significant association with sperm motility or infertility parameters
PMID: 31108506
4
RBMY1A expression is downregulated in testicular embryonal carcinomas and seminomas through hypermethylation
PMID: 26625006
5
RBMY1A1 facilitates sorting of miR-105-5p into exosomes, affecting cancer-associated fibroblast transformation
PMID: 40151143
6
RBMY1A1 is a Y-linked gene that can be lost during Y chromosome degeneration in some mammalian species
PMID: 20443119
7
RBMY1A1 is a male-specific Y chromosome gene that may play roles in neurogenesis and stem cell differentiation
PMID: 35661078
Disease Associationsⓘ20
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.07Suggestive
cancerOpen Targets
0.04Suggestive
sarcomaOpen Targets
0.02Suggestive
liver cancerOpen Targets
0.02Suggestive
seminomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
azoospermiaOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
in situ carcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
HepatoblastomaOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
hypospadiasOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BPY2Protein interaction95%CDY2AProtein interaction93%CDY1Protein interaction92%BPY2BProtein interaction92%BPY2CProtein interaction92%CDY2BProtein interaction92%
Tissue Expression6 tissues
Liver
0%
Heart
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
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RBMY1A1BPY2CDY2ACDY1BPY2BBPY2CCDY2B
PROTEIN STRUCTURE
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PDB2FY1 · NMR
View on RCSB ↗
RankingsWhere RBMY1A1 stands among ~20K protein-coding genes
  • #8,865of 20,598
    Most Researched50
Genes detectedRBMY1A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The complete sequence of a human Y chromosome.
PMID: 37612512
Nature · 2023
1.00
2
Isoform-Level Gene Expression Profiles of Human Y Chromosome Azoospermia Factor Genes and Their X Chromosome Paralogs in the Testicular Tissue of Non-Obstructive Azoospermia Patients.
PMID: 26162009
J Proteome Res · 2015
0.90
3
Breast cancer-derived exosomal miR-105-5p facilitates the transformation of NFs into CAFs through LATS2-NF-κB signaling.
PMID: 40151143
Acta Biochim Biophys Sin (Shanghai) · 2025
0.80
4
The process of a Y-loss event in an XO/XO mammal, the Ryukyu spiny rat.
PMID: 20443119
Chromosoma · 2010
0.70
5
Hypermethylation of genes in testicular embryonal carcinomas.
PMID: 26625006
Br J Cancer · 2016
0.60