RBMY1A1 (RNA binding motif protein Y-linked family 1 member A1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5940
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding motif protein Y-linked family 1 member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBMY1A1
Synonyms (NCBI Gene) Gene synonyms aliases
RBM, RBM1, RBM2, RBMY, RBMY1C, YRRM1, YRRM2
Chromosome Chromosome number
Y
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Yq11.223
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT644779 hsa-miR-3121-5p HITS-CLIP 23824327
MIRT644778 hsa-miR-570-3p HITS-CLIP 23824327
MIRT644777 hsa-miR-5585-3p HITS-CLIP 23824327
MIRT644779 hsa-miR-3121-5p HITS-CLIP 23824327
MIRT644778 hsa-miR-570-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 12165565
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0003723 Function RNA binding IBA 21873635
GO:0003729 Function MRNA binding IDA 12165565
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
400006 9912 ENSG00000234414
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P0DJD3
Protein name RNA-binding motif protein, Y chromosome, family 1 member A1 (RNA-binding motif protein 1) (RNA-binding motif protein 2) (Y chromosome RNA recognition motif 1) (hRBMY)
Protein function RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs. {ECO:0000269|PubMed:12165565, ECO:000026
PDB 2FY1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 10 → 79 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF08081 RBM1CTR 174 → 218 RBM1CTR (NUC064) family Family
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:8269511}.
Sequence 
MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTSKSRGFAFITFENPAD
AKNAAKDMNGKSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRSPSGSLRSARGSRGGTR
GWLPSHEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPPKKSAPSAVARSNSWMGS
QGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNHPSCQETRDYAPPSRGYAY
RDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYGHSRRDESYSRGYRNRRSSR
ETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETRDYAPPHRDYAYRDYGHSSWD
EHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGTSHGAPPARGPRMSYGGSTCHA
YSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPPSLGRVLPDPREACGSSSYVASI
VDGGESRSEKGDSSRY
Sequence length 496
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Non-obstructive azoospermia Non-obstructive azoospermia rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Oligospermia Oligospermia rs1602125411, rs377712900
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Gonadal Disorders Associate 12514087
Infertility Male Associate 23567846
Neoplasms Germ Cell and Embryonal Associate 23567846