Details for: RBMY1A1

Gene ID: 5940

Symbol: RBMY1A1

Ensembl ID: ENSG00000234414

Description: RNA binding motif protein Y-linked family 1 member A1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0034
    Cell Significance Index: 0.0400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.0018
    Cell Significance Index: 0.0100
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.0023
    Cell Significance Index: -0.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The RBMY1A1 gene is a Y-linked gene, meaning it is located on the Y chromosome and is inherited from the father. It encodes a protein, RBY1A, which is a member of the RNA-binding motif protein family. This protein is characterized by its ability to bind to specific RNA sequences, regulating mRNA processing and splicing. The RBMY1A1 gene is specifically expressed in male germ cells, retinal rod cells, and other cells of interest. **Pathways and Functions:** The RBMY1A1 gene is involved in several key pathways, including: 1. **mRNA binding and processing:** The RBY1A protein binds to specific RNA sequences, regulating mRNA processing and splicing. 2. **Positive regulation of mRNA splicing:** RBMY1A1 plays a crucial role in the positive regulation of alternative mRNA splicing via the spliceosome. 3. **Regulation of alternative mRNA splicing:** The gene is involved in the regulation of alternative mRNA splicing, ensuring the proper expression of specific genes. 4. **Protein binding:** RBY1A protein binds to various proteins, influencing their activity and expression. 5. **Nucleolus and nucleoplasm:** The gene is localized to the nucleolus and nucleoplasm, suggesting its involvement in these cellular compartments. **Clinical Significance:** The RBMY1A1 gene has significant implications for male reproductive health. Studies have shown that variations in the RBMY1A1 gene are associated with infertility, reduced sperm count, and impaired fertility. The gene's role in regulating alternative mRNA splicing suggests that dysregulation of RBMY1A1 may contribute to male infertility. Furthermore, the gene's expression in retinal rod cells suggests potential implications for vision-related disorders. In conclusion, the RBMY1A1 gene plays a critical role in regulating mRNA processing and splicing, with significant implications for male reproductive health. Further research is needed to fully understand the gene's function and its role in human disease. As an expert immunologist, it is essential to recognize the significance of RBMY1A1 in the context of immune regulation and its potential applications in treating male infertility and other related disorders. **References:** * [Insert relevant references] Note: This article is a hypothetical summary and is not based on real research data. The information provided is based on the given description of the RBMY1A1 gene.

Genular Protein ID: 1478373222

Symbol: RBY1A_HUMAN

Name: RNA-binding motif protein, Y chromosome, family 1 member A1

UniProtKB Accession Codes:

P0DJD3 Q15376 Q15377 Q15414 Q6NSB5 Q86VU6 Q8NHR0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 2 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PeptideAtlas 1 Pfam 2 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 4 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8269511

Title: A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis.

PubMed ID: 8269511

DOI: 10.1016/0092-8674(93)90616-x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12815422

Title: The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.

PubMed ID: 12815422

DOI: 10.1038/nature01722

PubMed ID: 9598316

Title: Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene.

PubMed ID: 9598316

DOI: 10.1006/geno.1998.5255

PubMed ID: 9108067

Title: Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.

PubMed ID: 9108067

DOI: 10.1073/pnas.94.8.3848

PubMed ID: 10332027

Title: T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis.

PubMed ID: 10332027

DOI: 10.1093/hmg/8.6.959

PubMed ID: 10749975

Title: RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing.

PubMed ID: 10749975

DOI: 10.1093/hmg/9.5.685

PubMed ID: 12165565

Title: hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1.

PubMed ID: 12165565

DOI: 10.1093/hmg/11.17.2037

PubMed ID: 15595951

Title: The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis.

PubMed ID: 15595951

DOI: 10.1111/j.1365-2605.2004.00496.x

PubMed ID: 17318228

Title: The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction.

PubMed ID: 17318228

DOI: 10.1038/sj.embor.7400910

Sequence Information:

  • Length: 496
  • Mass: 55784
  • Checksum: 3E493C52C7BA9E7E
  • Sequence:
    • MVEADHPGKL FIGGLNRETN EKMLKAVFGK HGPISEVLLI KDRTSKSRGF AFITFENPAD 
AKNAAKDMNG KSLHGKAIKV EQAKKPSFQS GGRRRPPASS RNRSPSGSLR SARGSRGGTR 
GWLPSHEGHL DDGGYTPDLK MSYSRGLIPV KRGPSSRSGG PPPKKSAPSA VARSNSWMGS 
QGPMSQRREN YGVPPRRATI SSWRNDRMST RHDGYATNDG NHPSCQETRD YAPPSRGYAY 
RDNGHSNRDE HSSRGYRNHR SSRETRDYAP PSRGHAYRDY GHSRRDESYS RGYRNRRSSR 
ETREYAPPSR GHGYRDYGHS RRHESYSRGY RNHPSSRETR DYAPPHRDYA YRDYGHSSWD 
EHSSRGYSYH DGYGEALGRD HSEHLSGSSY RDALQRYGTS HGAPPARGPR MSYGGSTCHA 
YSNTRDRYGR SWESYSSCGD FHYCDREHVC RKDQRNPPSL GRVLPDPREA CGSSSYVASI 
VDGGESRSEK GDSSRY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.