SG ID

SG00000702 

UniProt Accession

RBY1A_HUMAN;P0DJD3;Q15376;Q15377;Q15414;Q6NSB5;Q86VU6;Q8NHR0;  

Theoretical PI

10.3  

Molecular Weight

55784 Da  

Genbank Nucleotide ID

X76059; BC047768; BC070298; AC010141;  

Genbank Protein ID

CAA53659.1; AAH47768.1; AAH70298.1; 

Gene Name

RBMY1A1 

Gene Synonyms/Alias

RBM1, RBM2, YRRM1, YRRM2 

Protein Name

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

Protein Synonyms/Alias

RNA-binding motif protein 1; RNA-binding motif protein 2; Y chromosome RNA recognition motif 1;hRBMY 

Homo sapiens (Human) 

9606 

Isolation and identification of target genes of hRBMY will be helpful to further investigate the biological function of RBMY in spermatogenesis. RBM1a has an RNA binding domain, RBM1a may be involved in RNA processing, such as RNA splicing or RNA export which are events necessary for normal spermatogenesis. 

The information of related literatures

1. C. Osterlund, B. Stabi, S. Bhasin, U. Kvist, A. Pousette and S. Arver (2001) Specific localization of RBM1a in the nuclei of all cell types except elongated spermatids within seminiferous tubules of the human. Int J Androl 24(5): 272-7. 

Abstract
Recent studies have indicated that at least three regions (AZF a-c) on the long arm of the Y-chromosome code for factors are involved in spermatogenesis. One of the candidate genes in the AZFb region is RBM1a, coding for a protein with an RNA binding motif. In this study, poly clonal antibodies raised against a 15 amino acid peptide, corresponding to residues 263-304 of the deduced amino acid sequence of RBM1a, has been used to localize the RBM1a protein in the human testis. Immunohistochemistry on normal human testis using this RBM1a antibody, localized the antigen to the nuclei of spermatogonia, primary spermatocytes, and round spermatids but not to the nuclei of elongated spermatids. The antibody also specifically identified the nuclei of Sertoli cells, although the fluorescence was not as strong as in the germ cell nuclei it identified. No specific fluorescence was seen in the nuclei of either peritubular, endothelial or Leydig cells. Western blot of normal human testicular tissue using the anti-RBM1a antibody gave rise to a single specific band of approximately 55 kDa, corresponding to the expected size of RBM1a. In view of its expression in germ cells, and because RBM1a has an RNA binding domain, RBM1a may be involved in RNA processing, such as RNA splicing or RNA export which are events necessary for normal spermatogenesis. PMID: [11554984] 

2. M. Zeng, S. Liang, S. Zhao, Y. Liu, H. Sun, S. Zhang and Y. Ma (2011) Identifying mRNAs bound by human RBMY protein in the testis. J Reprod Dev 57(1): 107-12. 

Abstract
Rbmy gene encodes a germ-cell specific nuclear RNA-binding protein and is involved in spermatogenesis. To further investigate the specific events of spermatogenesis in which Rbmy plays a role, the target mRNAs of human RBMY protein were isolated and identified. Through the isolating specific nucleic acids associated with proteins (SNAAP) technique, we isolated twenty potential target genes of human RBMY protein from the human testis in the present study. Some of these target genes play important roles during spermatogenesis and have alternative transcripts in the testis. In this study, we focused on the human- related (never in mitosis gene a) kinase 10 (Nek10) gene, which belongs to the Nek protein kinase subfamily. Nek10 has two transcripts, and the results of RT-PCR and Electrophoretic Mobility Shift Assays (EMSA) show that hRBMY protein can only bind to transcript variant 2 of Nek10 and that hRbmy may take part in alternative splicing of Nek10. Isolation and identification of target genes of hRBMY will be helpful to further investigate the biological function of RBMY in spermatogenesis. PMID: [21422736] 

3. R. Behulova, L. Strhakova, I. Boronova, A. Cibulkova, M. Konecny, L. Danisovic and V. Repiska (2011) DNA analysis of Y chromosomal AZF region in Slovak population with fertility disorders. Bratisl Lek Listy 112(4): 183-7. 

Abstract
BACKGROUND PMID: [21585124] 

4. S. K. Mahadevaiah, T. Odorisio, D. J. Elliott, A. Rattigan, M. Szot, S. H. Laval, L. L. Washburn, J. R. McCarrey, B. M. Cattanach, R. Lovell-Badge and P. S. Burgoyne (1998) Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities. Hum Mol Genet 7(4): 715-27. 

Abstract
An RNA-binding motif (RBM) gene family has been identified on the human Y chromosome that maps to the same deletion interval as the 'azoospermia factor' (AZF). We have identified the homologous gene family (Rbm) on the mouse Y with a view to investigating the proposal that this gene family plays a role in spermatogenesis. At least 25 and probably >50 copies of Rbm are present on the mouse Y chromosome short arm located between Sry and the centromere. As in the human, a role in spermatogenesis is indicated by a germ cell-specific pattern of expression in the testis, but there are distinct differences in the pattern of expression between the two species. Mice carrying the deletion Yd1, that maps to the proximal Y short arm, are female due to a position effect resulting in non-expression of Sry ; sex-reversing such mice with an Sry transgene produces males with a high incidence of abnormal sperm, making this the third deletion interval on the mouse Y that affects some aspect of spermatogenesis. Most of the copies of Rbm map to this deletion interval, and the Yd1males have markedly reduced Rbm expression, suggesting that RBM deficiency may be responsible for, or contribute to, the abnormal sperm development. In man, deletion of the functional copies of RBM is associated with meiotic arrest rather than sperm anomalies; however, the different effects of deletion are consistent with the differences in expression between the two species. PMID: [9499427] 

5. A. Ferlin, E. Moro, A. Garolla and C. Foresta (1999) Human male infertility and Y chromosome deletions. Hum Reprod 14(7): 1710-6. 

Abstract
Microdeletions in Yq11 overlapping three distinct 'azoospermia factors' (AZFa-c) represent the aetiological factor of 10-15% of idiopathic azoospermia and severe oligozoospermia, with higher prevalence in more severe testiculopathies, such as Sertoli cell-only syndrome. Using a PCR-based screening, we analysed Yq microdeletions in 180 infertile patients affected by idiopathic Sertoli cell-only syndrome and different degrees of hypospermatogenesis, compared with 50 patients with known causes of testicular alteration, 30 with obstructive azoospermia, and 100 normal fertile men. In idiopathic severe testiculopathies (Sertoli cell-only syndrome and severe hypospermatogenesis), a high prevalence of microdeletions (34.5% and 24.7% respectively) was found, while milder forms were not associated with Yq alteration. No deletions were found in testiculopathies of known aetiology, obstructive azoospermia, normal fertile men and male relatives of patients with deletions. Deletions in the AZFc region involving the DAZ gene were the most frequent finding and they were more often observed in severe hypospermatogenesis than in Sertoli cell-only syndrome, suggesting that deletions of this region are not sufficient to cause complete loss of the spermatogenic line. Deletions in AZFb involving the RBM gene were less frequently detected and there was no correlation with testicular phenotype, with an apparent minor role for such gene in spermatogenesis. The DFFRY gene was absent in a fraction of patients, making it a candidate AZFa gene. Our data suggest that larger deletions involving more than one AZF-candidate gene are associated with a more severe testicular phenotype. PMID: [10402373] 

6. L. Skrisovska, C. F. Bourgeois, R. Stefl, S. N. Grellscheid, L. Kister, P. Wenter, D. J. Elliott, J. Stevenin and F. H. Allain (2007) The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction. EMBO Rep 8(4): 372-9. 

Abstract
The RBMY (RNA-binding motif gene on Y chromosome) protein encoded by the human Y chromosome is important for normal sperm development. Although its precise molecular RNA targets are unknown at present, it is suggested that human RBMY (hRBMY) participates in splicing in the testis. Using systematic evolution of ligands by exponential enrichment, we found that RNA stem-loops capped by a C(A)/(U)CAA pentaloop are high-affinity binding targets for hRBMY. Subsequent nuclear magnetic resonance structural determination of the hRBMY RNA recognition motif (RRM) in complex with a high-affinity target showed two distinct modes of RNA recognition. First, the RRM beta-sheet surface binds to the RNA loop in a sequence-specific fashion. Second, the beta2-beta3 loop of the hRBMY inserts into the major groove of the RNA stem. The first binding mode might be conserved in the paralogous protein heterogeneous nuclear RNP G, whereas the second mode of binding is found only in hRBMY. This structural difference could be at the origin of the function of RBMY in spermatogenesis. PMID: [17318228] 

Figures for illustrating the function of this protein/gene

Function

RNA-binding protein involved in pre-mRNA splicing.Required for sperm development. Acts additively with TRA2B topromote exon 7 inclusion of the survival motor neuron SMN. Bindsnon-specifically to mRNAs. 

Subcellular Location

Nucleus. 

Tissue Specificity

Testis-specific. 

Gene Ontology

GO ID	GO term	Evidence
GO:0005634	C:nucleus	IEA:UniProtKB-SubCell.
GO:0003729	F:mRNA binding	IDA:UniProtKB.
GO:0000166	F:nucleotide binding	IEA:InterPro.
GO:0006397	P:mRNA processing	IEA:UniProtKB-KW.
GO:0000381	P:regulation of alternative nuclear mRNA splicing, via spliceosome	IDA:UniProtKB.
GO:0008380	P:RNA splicing	IEA:UniProtKB-KW.

Back to Top

Interpro

IPR012677;    Nucleotide-bd_a/b_plait.
IPR012604;    RBM1CTR.
IPR000504;    RRM_dom.
Back to Top

Pfam

PF08081;    RBM1CTR;    1.
PF00076;    RRM_1;    1.
Back to Top

SMART

SM00360;    RRM;    1.
Back to Top

PROSITE

PS50102;    RRM;    1.
Back to Top

PRINTS

Back to Top

Created Date

18-Oct-2012 

Record Type

Experiment identified 

Protein sequence Annotation

Nucleotide Sequence

Length: 1878 bp   Go to nucleotide: FASTA

Protein Sequence

Length: 496 bp   Go to amino acid: FASTA

The verified Protein-Protein interaction information

UniProt	Gene Symbol	Ref Databases
B2R6F3_HUMAN	SFRS3	HPRD
KHDR3_HUMAN	KHDRBS3	HPRD
SRSF3_HUMAN	SRSF3	HPRD
SRSF9_HUMAN	SRSF9	HPRD
TRA2B_HUMAN	TRA2B	HPRD

Other Protein-Protein interaction resources

String database  

UniProt	Gene Symbol	Ref Databases
CDY2_HUMAN	CDY2A	String
DAZ1_HUMAN	DAZ1	String
DDX3Y_HUMAN	DDX3Y	String
GATA1_HUMAN	GATA1	String
KDM5D_HUMAN	KDM5D	String
LMNA_HUMAN	LMNA	String
RBM3_HUMAN	RBM3	String
CDY2_HUMAN	CDY2A	String
DAZ1_HUMAN	DAZ1	String
DDX3Y_HUMAN	DDX3Y	String
GATA1_HUMAN	GATA1	String
KDM5D_HUMAN	KDM5D	String
KHDR3_HUMAN	KHDRBS3	String
LMNA_HUMAN	LMNA	String
RBM3_HUMAN	RBM3	String
SRSF3_HUMAN	SRSF3	String
SRSF9_HUMAN	SRSF9	String
TBC25_HUMAN	TBC1D25	String
TRA2B_HUMAN	TRA2B	String
TBC25_HUMAN	TBC1D25	String

View Microarray data

Temporarily unavailable 

Comments