Human Gene RBMY1A1 (ENST00000439108.6) Description and Page Index
Description: 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. (from UniProt P0DJD3) RefSeq Summary (NM_001006121): 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 likely functions as a splicing factor 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.274280.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000383020.7/ ENSP00000372484.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Gencode Transcript: ENST00000439108.6 Gencode Gene: ENSG00000234414.7 Transcript (Including UTRs) Position: hg38 chrY:21,511,372-21,549,318 Size: 37,947 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chrY:21,513,351-21,549,048 Size: 35,698 Coding Exon Count: 11
ID:RBY1A_HUMAN DESCRIPTION: RecName: Full=RNA-binding motif protein, Y chromosome, family 1 member A1; AltName: Full=RNA-binding motif protein 1; AltName: Full=RNA-binding motif protein 2; AltName: Full=Y chromosome RNA recognition motif 1; Short=hRBMY; 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. SUBUNIT: Interacts with splicing factor proteins SFRS3/SRP20, TRA2B/SFRS10, KHDRBS1/SAM68 and KHDRBS3. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Testis-specific. DEVELOPMENTAL STAGE: Expressed in all of the transcriptionally active stages of germ cell development from spermatogonia through spermatocytes to round spermatids. MISCELLANEOUS: The RBMY1 proteins are encoded by repeated regions of the Y chromosome, mostly within the AZFb region. The exact number of functional copies is unclear and may vary between individuals, and some of them may represent pseudogenes. The proteins are very similar, which makes the characterization of each protein difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a RBMY1 protein involve all the proteins. SIMILARITY: Contains 1 RRM (RNA recognition motif) domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RBMY1A1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P0DJD3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.