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FLASH GENE
Symbol RBMY1A1 contributors: mct - updated : 31-08-2011
HGNC name RNA binding motif protein, Y chromosome, family 1, member A1
HGNC id 9912
Corresponding disease
AZFB nonobstructive spermatogenic failure
Location Yq11.223      Physical location : 23.673.257 - 24.040.639
Synonym symbol(s) YRRM1, RBM1, RBM2, RBMY
DNA
TYPE functioning gene
STRUCTURE 14.42 kb     12 Exon(s)    6 Copie(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - AZFA - USP9Y - DDX3Y - UTY - XKRY - CDY2A - [DYS108 - DYS113 - DYS117 - JARID1D - EIF1AY - RBMY1A1 ] - AZFC AZFC - BPY2 - DAZ@ - CDY1 - PRY - qter
Authors Ferlin (03)
Text (RBMY1A1 ]
Physical map
CYorf15A Yq11.22 chromosome Y open reading frame 15A CYorf15B Yq11.222 chromosome Y open reading frame 15B SMCY Yq11.22 Smcy homolog, Y chromosome (mouse) TTTY10 Yq11.221 testis-specific transcript, Y-linked 10 SMCYP Yq11.221 Smcy homolog, Y chromosome (mouse) pseudogene EIF1AY Yq11.222 eukaryotic translation initiation factor 1A, Y chromosome LOC386727 TBL1YP Yq11.222 transducin (beta)-like 1Y-linked pseudogene RPS4Y2 Yq11.223 ribosomal protein S4, Y-linked 2 LOC340623 Yq11.222 glyceraldehyde-3-phosphate dehydrogenase pseudogene LOC360028 Yq11.222 hypothetical protein MGC23909 pseudogene LOC359795 Yq11.2 neurofilament, light polypeptide 68kDa pseudogene LOC379007 Yq11.223 RNA binding motif protein, Y-linked, family 2, pseudogene LOC159125 Yq11.222 RNA binding motif protein, Y-linked, family 2, pseudogene LOC379008 Yq11.222 RNA binding motif protein, Y-linked, family 2, pseudogene LOC378013 Yq11.223 testis specific protein, Y-linked pseudogene RBMY1H Yq11.23 RNA binding motif protein, Y chromosome, family 1, member H RBMY1A1 Yq11.23 RNA binding motif protein, Y chromosome, family 1, member A1 TTTY13 Yq11.223 testis-specific transcript, Y-linked 13 CDY10P Yq11.223 chromodomain protein, Y-linked 10 pseudogene CDY11P Yq11.223 chromodomain protein, Y-linked 11 pseudogene LOC389922 Y similar to RNA binding motif protein, Y chromosome, family 1 member A1 (RNA-binding motif protein 1) RBMY2AP Yq11.23 RNA binding motif protein, Y-linked, family 2, member A pseudogene LOC386692 Yq11.223 oral-facial-digital syndrome 1 pseudogene TTTY6 Yq11.223 testis-specific transcript, Y-linked 6 MGC33094 Yq11.223 RNA binding motif protein, Y-linked, family 1 LOC379010 Yq11.223 RNA binding motif protein, Y-linked, family 2, pseudogene LOC392599 Y similar to MGC26641 protein TTY7 Yq11.223 testis transcript Y 7 LOC392600 Y similar to MGC26641 protein LOC379009 Yq11.223 RNA binding motif protein, Y-linked, family 2, pseudogene LOC389923 Y similar to Transcript Y 6 protein LOC389924 Y similar to NFS1 nitrogen fixation 1 isoform b precursor; cysteine desulfurase; nitrogen-fixing bacteria S-like protein PRY Yq11.23 PTPN13-like, Y-linked CDY13P Yq11.223 chromodomain protein, Y-linked 13 pseudogene LOC386693 Yq11.223 oral-facial-digital syndrome 1 pseudogene RBMY2BP Yq11.23 RNA binding motif protein, Y-linked, family 2, member B pseudogene LOC386728 Yq11.223 family with sequence similarity 8, member A1 pseudogene LOC379011 Yq11.223 RNA binding motif protein, Y-linked, family 2, pseudogene ZNF381P Y zinc finger protein 381, Y-linked pseudogene DAZ4 Yq11.23 deleted in azoospermia 4 DAZ Yq11.23 deleted in azoospermia DAZ2 Yq11.23 deleted in azoospermia 2 DAZ3 Yq11.23 deleted in azoospermia 3 LOC360020 Yq11.223 protein phosphatase 1, regulatory (inhibitor) subunit 12B pseudogene
regionally located . located in the deletion interval D6, at the distal end of the long arm of chromosome Y, in an AZF deleted region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 1900 55 496 testis specific 2010 20016065
- - 1793 - 356 testis specific 2010 20016065
lacking an in frame exon in the coding region
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Reproductivemale systemtestis   
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivespermatocyte
cell lineage
cell lines
fluid/secretion
at STAGE
Text developping germ cells
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal RNP (RRM) motif
  • four repeats of serine/arginine/glycine/tyrosine (SRGY) box in the C terminal region
  • HOMOLOGY
    interspecies homolog to murine Rbmy1a1
    Homologene
    FAMILY YRBM protein family
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • involved in RNA processing or translational control during spermatogenesis
  • germ-cell specific nuclear RNA-binding protein that is involved in spermatogenesis
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS reproduction/sex
    text spermatogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • binding to SFRS10 in splicing into spermatocytes
  • interacting with NEK10 (bind to transcript variant 2 of NEK10 and RBMY1A1 may take part in alternative splicing of NEK10)
  • TRA2B interact directly with the RBMY protein which is implicated in liver cancer
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AZFB
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in azoospermia and oligospermia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS