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Aliases for RBMY1A1 Gene

Aliases for RBMY1A1 Gene

  • RNA Binding Motif Protein, Y-Linked, Family 1, Member A1 2 3 5
  • Y Chromosome RNA Recognition Motif 1 3 4
  • RNA-Binding Motif Protein 2 3 4
  • YRRM1 3 4
  • YRRM2 3 4
  • RBM1 3 4
  • RBM2 3 4
  • RNA-Binding Motif Protein, Y Chromosome, Family 1 Member A1/C 3
  • RNA Binding Motif Protein, Y Chromosome, Family 1, Member A1 2
  • RNA-Binding Motif Protein, Y Chromosome, Family 1 Member A1 3
  • Y Chromosome RNA Recognition Motif 2 3
  • RNA-Binding Motif Protein 1 4
  • 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. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]

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 Spermatogenic Failure, Y-Linked, 2 and Partial Deletion Of Y. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is RBMY1B.

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

Additional gene information for RBMY1A1 Gene

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

Genomics for RBMY1A1 Gene

GeneHancer (GH) Regulatory Elements for RBMY1A1 Gene

Promoters and enhancers for RBMY1A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0YI021534 Promoter 0.5 EPDnew 550.3 +23.5 23528 0.1 ENSG00000228257 RBMY1A1 ENSG00000227989 RBMY1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RBMY1A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBMY1A1 gene promoter:

Genomic Locations for RBMY1A1 Gene

Genomic Locations for RBMY1A1 Gene
chrY:21,511,372-21,561,014
(GRCh38/hg38)
Size:
49,643 bases
Orientation:
Plus strand
chrY:23,673,258-23,711,212
(GRCh37/hg19)

Genomic View for RBMY1A1 Gene

Genes around RBMY1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBMY1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for RBMY1A1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for RBMY1A1 Gene

Domains & Families for RBMY1A1 Gene

Gene Families for RBMY1A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBMY1A1 Gene

Suggested Antigen Peptide Sequences for RBMY1A1 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IDA 12165565
GO:0005515 protein binding IPI 12165565
genes like me logo Genes that share ontologies with RBMY1A1: view

Phenotypes for RBMY1A1 Gene

GenomeRNAi human phenotypes for RBMY1A1:
genes like me logo Genes that share phenotypes with RBMY1A1: view

Human Phenotype Ontology for RBMY1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RBMY1A1 Gene

miRTarBase miRNAs that target RBMY1A1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for RBMY1A1 Gene

Localization for RBMY1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBMY1A1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBMY1A1 gene
Compartment Confidence
nucleus 4
extracellular 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RBMY1A1 Gene

Pathways & Interactions for RBMY1A1 Gene

SuperPathways for RBMY1A1 Gene

No Data Available

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 and SIGNOR curated interactions for RBMY1A1 Gene

Drugs & Compounds for RBMY1A1 Gene

No Compound Related Data Available

Transcripts for RBMY1A1 Gene

mRNA/cDNA for RBMY1A1 Gene

Unigene Clusters for RBMY1A1 Gene

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

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RBMY1A1 Gene

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

This gene is overexpressed in Testis (x50.9).

Protein differential expression in normal tissues from HIPED for RBMY1A1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RBMY1A1 Gene



Protein tissue co-expression partners for RBMY1A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RBMY1A1 Gene:

RBMY1A1

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.

Evidence on tissue expression from TISSUES for RBMY1A1 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBMY1A1 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Organs:
Pelvis:
  • testicle
genes like me logo Genes that share expression patterns with RBMY1A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RBMY1A1 Gene

Orthologs for RBMY1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBMY1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC736145 33
  • 97.18 (n)
-- 34
  • 95 (a)
ManyToMany
-- 34
  • 95 (a)
ManyToMany
-- 34
  • 94 (a)
ManyToMany
-- 34
  • 94 (a)
ManyToMany
-- 34
  • 94 (a)
ManyToMany
-- 34
  • 94 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RBMX 34
  • 52 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm3376 34
  • 42 (a)
ManyToMany
Gm10256 34
  • 41 (a)
ManyToMany
Gm10352 34
  • 41 (a)
ManyToMany
Gm21677 34
  • 41 (a)
ManyToMany
Gm21693 34
  • 41 (a)
ManyToMany
Gm21704 34
  • 41 (a)
ManyToMany
Gm21708 34
  • 41 (a)
ManyToMany
Rbmy 34
  • 41 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RBMX 34
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 57 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rbmx 34
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tra2 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rsp-8 34
  • 18 (a)
OneToMany
Species where no ortholog for RBMY1A1 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for RBMY1A1 Gene

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

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 Variation AA Info Type
rs112466435 -- 21,551,738(+) A/G genic_downstream_transcript_variant, intron_variant
rs112528818 -- 21,558,312(+) G/A genic_downstream_transcript_variant, intron_variant
rs113197078 -- 21,558,221(+) A/G genic_downstream_transcript_variant, intron_variant
rs113200619 -- 21,557,500(+) C/G genic_downstream_transcript_variant, intron_variant
rs113348044 -- 21,558,512(+) C/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2555e212 CNV gain 25503493
esv2758908 CNV gain+loss 17122850
esv3340077 CNV duplication 20981092
esv3577597 CNV gain 25503493
nsv10026 CNV gain 18304495
nsv1076748 CNV duplication 25765185
nsv1078161 CNV duplication 25765185
nsv1115938 CNV duplication 24896259
nsv1129122 CNV duplication 24896259
nsv1140100 CNV duplication 24896259
nsv1153997 CNV duplication 26484159
nsv469635 CNV loss 16826518
nsv469695 CNV loss 16826518
nsv471611 CNV gain+loss 15918152
nsv819669 CNV insertion 19587683
nsv953112 CNV duplication 24416366

Additional Variant Information for RBMY1A1 Gene

Human Gene Mutation Database (HGMD)
RBMY1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBMY1A1

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

Disorders for RBMY1A1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RBMY1A1 Gene - From: HGMD, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure, y-linked, 2
  • spgfy2
partial deletion of y
  • partial deletion of chromosome y
haemophilus meningitis
  • meningitis, haemophilus
azoospermia
  • spermatogenic failure
phelan-mcdermid syndrome
  • phmds
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RBMY1A1

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

No data available for UniProtKB/Swiss-Prot and Genatlas 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 NN … Yen PH (Genomics 1998) 2 3 4 22 58
  2. The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction. (PMID: 17318228) Skrisovska L … Allain FH (EMBO reports 2007) 3 4 22 58
  3. RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. (PMID: 10749975) Venables JP … Eperon IC (Human molecular genetics 2000) 3 4 22 58
  4. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. (PMID: 8269511) Ma K … Taylor K (Cell 1993) 2 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RBMY1A1 Gene

Sources for RBMY1A1 Gene

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