RBMY1A1
Description
The RBMY1A1 (RNA binding motif protein Y-linked family 1 member A1) is a protein-coding gene located on chromosome Y.
The RBMY1A1 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. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y, and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. Alternative splicing of transcripts results in two transcript variants that encode different proteins.
RBMY1A1 is a RNA-binding protein that participates in pre-mRNA splicing. It is essential for sperm development and works together with TRA2B to ensure the inclusion of exon 7 in the survival motor neuron (SMN) gene. RBMY1A1 has a non-specific binding affinity to mRNAs.
RBMY1A1 is also known as RBM, RBM1, RBM2, RBMY, RBMY1C, YRRM1, YRRM2.
