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

RNA-binding motif protein, Y-linked, family 1 member A1 (RBMY1A1) is a Y chromosome-encoded protein primarily expressed in the testis, where it plays an essential role in spermatogenesis by regulating pre-messenger RNA splicing events[1][2][3][4][5]. The protein contains an RNA-binding motif in its N-terminus and several SRGY (serine, arginine, glycine, tyrosine) repeats in its C-terminus. It is present in multiple copies in the AZFb region of the Y chromosome, with most being pseudogenes and several functional variants[1][2][3]. RBMY1A1 is required for proper sperm development, possibly through its additive effect with other splicing factors such as TRA2B to promote exon inclusion in genes like survival motor neuron (SMN)[2][5]. Deficiencies, mutations, or deletions in this gene are associated with disorders of spermatogenesis including male infertility and azoospermia[2][4]. Alternative splicing results in multiple isoforms of RBMY1A1, which may have distinct roles during germ cell development[4]. The gene and its protein products are not considered classical drug targets or receptors, but their expression may serve as a biomarker for specific forms of male infertility[4].

Other names

RBMYRBMY1CRBM1RBM2YRRM1YRRM2hRBMYRNA-binding motif protein 1RNA-binding motif protein 2Y chromosome RNA recognition motif 1Y chromosome RNA recognition motif 2RNA binding motif gene on Y chromosome