RBMY1A1 Gene
protein-coding GIFtS: 50
GCID: GC0YP023675
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RNA binding motif protein, Y-linked, family 1, member A1(Previous names: RNA binding motif protein, Y chromosome, family 1, member...)
(Previous symbols: RBM1, RBM2)
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Aliases
for RBMY1A1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| RNA Binding Motif Protein, Y-Linked, Family 1, Member A11 2 | | RNA-Binding Motif Protein 22 3 | | RBM11 2 3 5 | | RBM2 | | RBM21 2 3 5 | | RBMY2 | | YRRM11 2 3 5 | | RBMY1C2 | | YRRM21 2 3 | | RNA Binding Protein2 | | RNA Binding Motif Protein, Y Chromosome, Family 1, Member A11 2 | | RNA-Binding Motif Protein, Y Chromosome, Family 1 Member A12 | | Y Chromosome RNA Recognition Motif 12 3 | | RNA-Binding Motif Protein, Y Chromosome, Family 1 Member A1/C2 | | RNA-Binding Motif Protein 12 3 | | HRBMY1 |
Export aliases for RBMY1A1 gene to outside databasesPrevious GC identifers: GC0YP022851 GC0YP022518 GC0YP022541 GC0YP022012 GC0YP022084 |
Summaries
for RBMY1A1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RBMY1A1:
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 ofchromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus arepseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functionalcopies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindromeP3, along with two copies of PTPN13-like, Y-linked. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: RBY1A_HUMAN, P0DJD3Function: RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2Bto promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs
Gene Wiki entry for RBMY1A1 (RNA binding motif protein, Y-linked, family 1, member A1)
|
Genomic Views
for RBMY1A1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000024.9 NT_011875.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RBMY1A1 gene promoter:
POU2F1 POU2F1b POU2F1a POU2F1c CUTL1 GATA-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for RBMY1A1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBMY1A1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Yq11.223 Ensembl cytogenetic band: Yq11.223 HGNC cytogenetic band: Yq11.23RBMY1A1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome Y GeneLoc Exon Structure GeneLoc location for GC0YP023675: view genomic region
(about GC identifiers)
Start:
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23,673,258 bp from pter |
End:
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23,711,212 bp from pter |
Size:
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37,955 bases |
Orientation:
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plus strand |
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Proteins
for RBMY1A1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RBY1A_HUMAN, P0DJD3 (See
protein sequence)Recommended Name: RNA-binding motif protein, Y chromosome, family 1 member A1 Size: 496 amino acids; 55784 Da
Subunit: Interacts with splicing factor proteins SFRS3/SRP20, TRA2B/SFRS10, KHDRBS1/SAM68 and KHDRBS3
Subcellular location: Nucleus
Developmental stage: Expressed in all of the transcriptionally active stages of germ cell development fromspermatogonia through spermatocytes to round spermatids
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 representpseudogenes. The proteins are very similar, which makes the characterization of each protein difficult. Thus, mostexperiments do not discriminate between the different members. One can therefore suppose that reported interactionswith a RBMY1 protein involve all the proteins
1 PDB 3D structure from  and Proteopedia  for RBMY1A1:2FY1 (3D)
Secondary accessions: Q15376 Q15377 Q15414 Q6NSB5 Q86VU6 Q8NHR0Alternative splicing: 3 isoforms: P0DJD3-1 P0DJD3-2 P0DJD3-3 Explore the universe of human proteins at neXtProt for RBMY1A1: NX_P0DJD3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P0DJD3
RBMY1A1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005049.1
ENSEMBL proteins: ENSP00000372154 ENSP00000354329 ENSP00000303712 ENSP00000388006
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
RBMY1A1 for ontologies About GeneDecksing
RBMY1A1 Antibody Products:
Assay Products for RBMY1A1: |
Protein
Domains /
Families
for RBMY1A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RBMY1A1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P0DJD3ProtoNet protein and cluster: P0DJD3 UniProtKB/Swiss-Prot: RBY1A_HUMAN, P0DJD3Similarity: Contains 1 RRM (RNA recognition motif) domain |
Function
for RBMY1A1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RBY1A_HUMAN, P0DJD3Function: RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2Bto promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs Genatlas biochemistry entry for RBMY1A1:RNA binding motif protein,Y chromosome,interval 6,family 1,member A1,in a AZF deleted region
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RBMY1A1
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBMY1A1 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
RBMY1A1 for ontologies About GeneDecksing
|
Pathways & Interactions
for RBMY1A1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBMY1A1
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5 Interacting proteins for RBMY1A1 (ENSP000003037124) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
RBMY1A1 for ontologies About GeneDecksing
|
Drugs & Compounds
for RBMY1A1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RBMY1A1
Search CenterWatch for drugs/clinical trials and news about RBMY1A1 / RBY1A
|
Transcripts
for RBMY1A1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RBMY1A1 gene (2 alternative transcripts): NM_005058.2 NM_001007526.1 Unigene Cluster for RBMY1A1: RNA binding motif protein, Y-linked, family 1, member A1 Hs.380450 [show with all ESTs]Unigene Representative Sequence: NM_0050584 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000382707(uc004fuq.4 uc011nbd.2 uc010nxa.3 uc004fur.4)
ENST00000361046 ENST00000303902 ENST00000439108
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RBMY1A1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RBMY1A1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: BC047768.1 BC070298.1 BC136862.1 BC140758.1 BC144422.1 BC144423.1 BC144459.1 BC144577.1 BC146853.1 X76059.1 4 DOTS entries: DT.120653962 DT.102820644 DT.92415864 DT.97826649 12 AceView cDNA sequences: CB107177 BX119894 BQ212524 BX282035 BC070298 BU568309 BP370066 BI464610 X76059 NM_005058 AI220048 BI462515
GeneLoc Exon Structure
|
Expression
for RBMY1A1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RBMY1A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACTGCAAAA
About this image
See RBMY1A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RBMY1A1
SOURCE GeneReport for Unigene cluster: Hs.380450
UniProtKB/Swiss-Prot: RBY1A_HUMAN, P0DJD3Tissue specificity: Testis-specific
SABiosciences Custom PCR Arrays for RBMY1A1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RBMY1A1
Browse OriGene validated miRNA SYBR primer pairs
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Primer Assays in human, mouse, rat RBMY1A1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RBMY1A1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBMY1A1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBMY1A1 |
Orthologs
for RBMY1A1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for RBMY1A1 gene from 6/15 species (see all 15) About this table
ENSEMBL Gene Tree for RBMY1A1 (if available)
TreeFam Gene Tree for RBMY1A1 (if available) |
Paralogs
for RBMY1A1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RBMY1A1 gene
- RBMY1D1 2 RBMY1B1 2 RBMY1E1 2 RBMY1F1 2 RBMY1J1 2 RBMXL22 RBMXL32 TRA2B2
- RBMXL12 CIRBP2 RBM32 TRA2A2 RBMX2
18/49 SIMAP similar genes for RBMY1A1 using alignment to 4 protein entries: RBY1A_HUMAN (see all proteins)
(see all similar genes):RBMY1C RBMY1B RBMY1F RBMY1E RBMY1J RBMY1D
RBM BOLL YRRM CIRBP HNRNPA3 DAZ2
DAZ3 DAZ4 PABPC3 RBMX DAZL PABPC4L
RBMY1A1 for paralogs About GeneDecksing
5/12 Pseudogenes.org Pseudogenes for RBMY1A1 (see all 12)
PGOHUM00000233681 PGOHUM00000233804 PGOHUM00000233805 PGOHUM00000261027 PGOHUM00000233823
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Genomic Variants
for RBMY1A1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr Y pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RBMY1A1 (23673258 - 23711212 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for RBMY1A1
8 CNVs: 97200 0832 83942 31589 83941 59626 4184 97201 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RBMY1A1 |
|
Disorders
/ Diseases
for RBMY1A1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RBMY1A1 for disorders About GeneDecksing
OMIM gene information: 400006
OMIM disorders: --
16  diseases for RBMY1A1: About MalaCardsazoospermia y chromosome infertility myotonic dystrophy male infertility
oligospermia gonadoblastoma infertility hepatitis b
liver cancer hepatocellular carcinoma prostate cancer hepatitis
prostatitis carcinoma neuronitis hiv type 1
2 diseases from the University of Copenhagen DISEASES database for RBMY1A1:Azoospermia Oligospermia 4 Novoseek disease relationships for RBMY1A1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| azoospermia |
76 |
3 |
8978761 (1), 16491274 (1) |
| oligozoospermia |
73.3 |
1 |
8940286 (1) |
| chromosome deletion |
73.2 |
1 |
17296183 (1) |
| infertility male |
56.4 |
1 |
11294825 (1) |
GeneTests: RBMY1A1
Y Chromosome Infertility
Export disorders for RBMY1A1 gene to outside databases
|
Publications
for RBMY1A1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RBMY1A1 gene, integrated from 9 sources (see all 46):
(articles sorted by number of sources associating them with RBMY1A1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. (PubMed id 9598316)1, 2, 3, 9 Chai N.-N.... Yen P.H. (1998)
- A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. (PubMed id 8269511)1, 2, 3 Ma K.... Jobling M. (1993)
- The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction. (PubMed id 17318228)1, 2, 9 Skrisovska L.... Allain F.H.-T. (2007)
- RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. (PubMed id 10749975)1, 2, 9 Venables J.P....Eperon E.C. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)1, 2 Skaletsky H.... Page D.C. (2003)
- hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. (PubMed id 12165565)1, 2 Hofmann Y. and Wirth B. (2002)
- Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
- Identifying mRNAs bound by human RBMY protein in the testis. (PubMed id 21422736)1 Zeng M....Ma Y. (2011)
- Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
|
External Searches for RBMY1A1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RBMY1A1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RBMY1A1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RBMY1A1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for RBMY1A1 gene:
Search GeneIP for patents involving RBMY1A1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RBMY1A1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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