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Aliases for RBMY1A1 Gene

Aliases for RBMY1A1 Gene

  • RNA Binding Motif Protein, Y-Linked, Family 1, Member A1 2 3
  • YRRM1 3 4 6
  • RBM1 3 4 6
  • RBM2 3 4 6
  • RNA Binding Motif Protein, Y Chromosome, Family 1, Member A1 2 3
  • Y Chromosome RNA Recognition Motif 1 3 4
  • RNA-Binding Motif Protein 1 3 4
  • RNA-Binding Motif Protein 2 3 4
  • YRRM2 3 4
  • RNA-Binding Motif Protein, Y Chromosome, Family 1 Member A1/C 3
  • RNA-Binding Motif Protein, Y Chromosome, Family 1 Member A1 3
  • RNA Binding Protein 3
  • RBMY1C 3
  • HRBMY 4
  • RBMY 3
  • RBM 3

External Ids for RBMY1A1 Gene

Previous HGNC Symbols for RBMY1A1 Gene

  • RBM1
  • RBM2

Previous GeneCards Identifiers for RBMY1A1 Gene

  • GC0YP022851
  • GC0YP022518
  • GC0YP022541
  • GC0YP022012
  • GC0YP022084
  • GC0YP023675
  • GC0YP023680

Summaries for RBMY1A1 Gene

Entrez Gene Summary for RBMY1A1 Gene

  • 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. 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for RBMY1A1 Gene

RBMY1A1 (RNA Binding Motif Protein, Y-Linked, Family 1, Member A1) is a Protein Coding gene. Diseases associated with RBMY1A1 include partial deletion of y and myotonic dystrophy 2. GO annotations related to this gene include nucleotide binding and mRNA binding. An important paralog of this gene is RBMY1D.

UniProtKB/Swiss-Prot for RBMY1A1 Gene

  • 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.

Gene Wiki entry for RBMY1A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBMY1A1 Gene

Genomics for RBMY1A1 Gene

Regulatory Elements for RBMY1A1 Gene

Genomic Location for RBMY1A1 Gene

Start:
21,534,853 bp from pter
End:
21,559,700 bp from pter
Size:
24,848 bases
Orientation:
Plus strand

Genomic View for RBMY1A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RBMY1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBMY1A1 Gene

Proteins for RBMY1A1 Gene

  • Protein details for RBMY1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DJD3-RBY1A_HUMAN
    Recommended name:
    RNA-binding motif protein, Y chromosome, family 1 member A1
    Protein Accession:
    P0DJD3
    Secondary Accessions:
    • Q15376
    • Q15377
    • Q15414
    • Q6NSB5
    • Q86VU6
    • Q8NHR0

    Protein attributes for RBMY1A1 Gene

    Size:
    496 amino acids
    Molecular mass:
    55784 Da
    Quaternary structure:
    • Interacts with splicing factor proteins SFRS3/SRP20, TRA2B/SFRS10, KHDRBS1/SAM68 and KHDRBS3.
    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

    Three dimensional structures from OCA and Proteopedia for RBMY1A1 Gene

    Alternative splice isoforms for RBMY1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBMY1A1 Gene

Proteomics data for RBMY1A1 Gene at MOPED

Post-translational modifications for RBMY1A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBMY1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBMY1A1 Gene

Domains for RBMY1A1 Gene

Gene Families for RBMY1A1 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for RBMY1A1 Gene

Suggested Antigen Peptide Sequences for RBMY1A1 Gene

Graphical View of Domain Structure for InterPro Entry

P0DJD3

UniProtKB/Swiss-Prot:

RBY1A_HUMAN :
  • P0DJD3
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with RBMY1A1: view

Function for RBMY1A1 Gene

Molecular function for RBMY1A1 Gene

GENATLAS Biochemistry: RNA binding motif protein,Y chromosome,interval 6,family 1,member A1,in a AZF deleted region
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for RBMY1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003729 mRNA binding IDA 12165565
GO:0005515 protein binding IPI 12165565
genes like me logo Genes that share ontologies with RBMY1A1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RBMY1A1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RBMY1A1 Gene

Localization for RBMY1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBMY1A1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBMY1A1 Gene COMPARTMENTS Subcellular localization image for RBMY1A1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for RBMY1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RBMY1A1: view

Pathways for RBMY1A1 Gene

SuperPathways for RBMY1A1 Gene

No Data Available

Interacting Proteins for RBMY1A1 Gene

Gene Ontology (GO) - Biological Process for RBMY1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 12165565
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with RBMY1A1: view

No data available for Pathways by source for RBMY1A1 Gene

Transcripts for RBMY1A1 Gene

mRNA/cDNA for RBMY1A1 Gene

(10) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(8) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RBMY1A1 Gene

RNA binding motif protein, Y-linked, family 1, member A1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RBMY1A1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for RBMY1A1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBMY1A1 Gene

No ASD Table

Relevant External Links for RBMY1A1 Gene

GeneLoc Exon Structure for
RBMY1A1
ECgene alternative splicing isoforms for
RBMY1A1

Expression for RBMY1A1 Gene

mRNA expression in normal human tissues for RBMY1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBMY1A1 Gene

This gene is overexpressed in Testis (50.9).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for RBMY1A1 Gene

SOURCE GeneReport for Unigene cluster for RBMY1A1 Gene Hs.380450

mRNA Expression by UniProt/SwissProt for RBMY1A1 Gene

P0DJD3-RBY1A_HUMAN
Tissue specificity: Testis-specific.
genes like me logo Genes that share expressions with RBMY1A1: view

In Situ Assay Products

Orthologs for RBMY1A1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for RBMY1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC736145 35
  • 97.18 (n)
  • 93.95 (a)
mouse
(Mus musculus)
Mammalia Rbmy 16
Species with no ortholog for RBMY1A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RBMY1A1 Gene

ENSEMBL:
Gene Tree for RBMY1A1 (if available)
TreeFam:
Gene Tree for RBMY1A1 (if available)

Paralogs for RBMY1A1 Gene

Paralogs for RBMY1A1 Gene

genes like me logo Genes that share paralogs with RBMY1A1: view

Variants for RBMY1A1 Gene

Sequence variations from dbSNP and Humsavar for RBMY1A1 Gene

SNP ID Clin Chr 0Y pos Sequence Context AA Info Type MAF
rs2701691 -- 21,552,826(+) CTGAG(A/T)GACTG intron-variant
rs112466435 -- 21,551,738(+) CTGTC(A/G)CCTAG intron-variant
rs112528818 -- 21,558,312(+) ACCAA(A/G)CACCG intron-variant
rs113197078 -- 21,558,221(+) AACTG(A/G)CATGA intron-variant
rs113200619 -- 21,557,500(+) CACCC(C/G)CAAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBMY1A1 Gene

Variant ID Type Subtype PubMed ID
dgv2501e1 CNV Complex 17122850
dgv2502e1 CNV Complex 17122850
dgv2503e1 CNV Complex 17122850
essv23856 CNV CNV 17122850
nsv469635 CNV Loss 16826518
nsv471611 CNV Gain+Loss 15918152
nsv10026 CNV Gain 18304495
nsv819669 CNV Insertion 19587683
nsv469695 CNV Complex 16826518

Relevant External Links for RBMY1A1 Gene

HapMap Linkage Disequilibrium report
RBMY1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBMY1A1 Gene

Disorders for RBMY1A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for RBMY1A1 Gene including...

Search for RBMY1A1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for RBMY1A1 Gene

(4) Novoseek inferred disease relationships for RBMY1A1 Gene

Disease -log(P) Hits PubMed IDs
azoospermia 76 2
oligozoospermia 73.3 1
chromosome deletion 73.2 1
infertility male 56.4 1

Relevant External Links for RBMY1A1

GeneTests
RBMY1A1
GeneReviews
RBMY1A1
genes like me logo Genes that share disorders with RBMY1A1: view

No data available for UniProtKB/Swiss-Prot for RBMY1A1 Gene

Publications for RBMY1A1 Gene

  1. Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. (PMID: 9598316) Chai N.-N. … Yen P.H. (Genomics 1998) 2 3 4 23
  2. The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction. (PMID: 17318228) Skrisovska L. … Allain F.H.-T. (EMBO Rep. 2007) 3 4 23
  3. RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. (PMID: 10749975) Venables J.P. … Eperon E.C. (Hum. Mol. Genet. 2000) 3 4 23
  4. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. (PMID: 8269511) Ma K. … Jobling M. (Cell 1993) 2 3 4
  5. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. (PMID: 12165565) Hofmann Y. … Wirth B. (Hum. Mol. Genet. 2002) 3 4

Products for RBMY1A1 Gene

Sources for RBMY1A1 Gene

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