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RNA-binding motif protein, Y chromosome, family 1 member A1/C; RNA-binding motif protein 1; RNA-binding motif protein 2; Y chromosome RNA recognition motif 1; hRBMY (RBMY1A1, RBM1, RBM2, YRRM1)
Function:
- RNA-binding protein
- may be involved in spermatogenesis
- required for sperm development, possibly by participating in pre-mRNA splicing in the testis
- interacts with splicing factor proteins SFRS3/SRP20, TRA2B/SFRS10, KHDRBS1/SAM68 & KHDRBS3
Structure:
- contains 1 RRM domain (RNA recognition motif)
Compartment: nucleus
Alternative splicing: named isoforms=3
Expression:
- testis-specific
- expressed in all of the transcriptionally active stages of germ cell development from spermatogonia through spermatocytes to round spermatids
Notes:
- the RBMY1 proteins are encoded by strongly repeated regions of the Y chromosome, mostly within the AZFb region
- the exact number of functional copies is unclear & may vary between individuals
- some copies may represent pseudogenes
- the proteins are very similar, which gives their individual characterization difficult & most studies do not discriminate between the different members
- reported interactions with a RBMY1 protein may involve any number of or all of the RBMY1 proteins
- UniProt reference changed in database 2/2012
General
nuclear protein
RNA-binding motif protein
Properties
SIZE: entity length = 496 aa
MW = 56 kD
COMPARTMENT: cell nucleus
MOTIF: RNP motif
NAME: RNP motif
SITE: 8-85
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
NAME: ribonucleoprotein-1 motif
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
ribonucleoprotein-2 motif
ribonucleoprotein-2 motif
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
ribonucleoprotein-2 motif
arginine-rich region {254-340}
MOTIF: arginine residue (SEVERAL)
Database Correlations
OMIM 400006
UniProt P0DJD3
PFAM correlations
Entrez Gene 5940
Kegg hsa:5940
References
- UniProt :accession Q15414
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RBMY1A1