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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBMY1F Gene

protein-coding   GIFtS: 41
GCID: GC0YM024314

RNA Binding Motif Protein, Y-Linked, Family 1, Member F

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RNA Binding Motif Protein, Y-Linked, Family 1, Member F1 2
Y Chromosome RNA Recognition Motif 22 3
YRRM22 3
RNA-Binding Motif Protein, Y Chromosome, Family 1 Member F/J2

External Ids:    HGNC: 239741   Entrez Gene: 1591632   Ensembl: ENSG000001698007   UniProtKB: Q154153   

Export aliases for RBMY1F gene to outside databases

Previous GC identifers: GC0YP022795 GC0YM022724


(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 RBMY1F 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 RBMY1F Gene: 
RBMY1F (RNA binding motif protein, Y-linked, family 1, member F) is a protein-coding gene. Diseases associated with RBMY1F include azoospermia, and gonadoblastoma. An important paralog of this gene is RBMY1J.

UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415
Function: RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly
by participating in pre-mRNA splicing in the testis




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000024.9  NT_011903.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBMY1F gene promoter:
         POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBMY1F promoter sequence
   Search SABiosciences Chromatin IP Primers for RBMY1F

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBMY1F


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: Yq11.223

RBMY1F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBMY1F gene location

GeneLoc information about chromosome Y         GeneLoc Exon Structure

GeneLoc location for GC0YM024314:  view genomic region     (about GC identifiers)

Start:
24,314,689 bp from pter      End:
24,329,129 bp from pter
Size:
14,441 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415 (See protein sequence)
Recommended Name: RNA-binding motif protein, Y chromosome, family 1 member F/J  
Size: 496 amino acids; 55728 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 from
spermatogonia 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
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
Secondary accessions: B2R916
Alternative splicing: 2 isoforms:  Q15415-1   Q15415-2   

Explore the universe of human proteins at neXtProt for RBMY1F: NX_Q15415

Explore proteomics data for RBMY1F at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15415

  • RBMY1F Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBMY1F Protein Expression
    REFSEQ proteins: NP_689798.1  
    ENSEMBL proteins: 
     ENSP00000307155   ENSP00000406005  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ----
    GO:0005634nucleus ----

    RBMY1F for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR012604 RBM1CTR
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q15415

    ProtoNet protein and cluster: Q15415

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB012604 RBM1CTR


    UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    RBMY1F for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBY1F_HUMAN, Q15415
    Function: RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly
    by participating in pre-mRNA splicing in the testis

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
         
    RBMY1F for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RBMY1F

    1 Interacting protein for RBMY1F (Q154153) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPKP619783I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing ----
    GO:0007283spermatogenesis ----
    GO:0008380RNA splicing ----

    RBMY1F for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBMY1F (RBY1F)

    Search CenterWatch for drugs/clinical trials and news about RBMY1F / RBY1F

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RBMY1F gene: 
    NM_152585.1  

    Unigene Cluster for RBMY1F:

    RNA binding motif protein, Y-linked, family 1, member F
    Hs.567746  [show with all ESTs]
    Unigene Representative Sequence: NM_152585
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303766(uc010nxh.3 uc004fva.3 uc022coi.1) ENST00000481858
    ENST00000454978(uc022coh.1)
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RBMY1F
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    Additional mRNA sequence: 

    AK313597.1 BC030018.2 BC152392.1 X76060.1 

    5 DOTS entries:

    DT.207550  DT.120651216  DT.120654377  DT.120654921  DT.97826649 

    2 AceView cDNA sequences:

    BC026077 BG718416 

    GeneLoc Exon Structure


    (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

    RBMY1F expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RBMY1F Expression
    About this image


    See RBMY1F Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBMY1F

    SOURCE GeneReport for Unigene cluster: Hs.567746

    UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415
    Tissue specificity: Testis-specific

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBMY1F

    (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 animals.

    Orthologs for RBMY1F gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RBMX6
    heterogeneous nuclear ribonucleoprotein G
    59(a)
    1 → many
    4(4390057-4400409)
    zebrafish
    (Danio rerio)
    Actinopterygii rbmx6
    RNA binding motif protein, X-linked
    50(a)
    1 → many
    14(32725471-32732600)
    fruit fly
    (Drosophila melanogaster)
    Insecta tra26
    transformer 2
    12(a)
    1 → many
    2R(10489509-10491857)
    worm
    (Caenorhabditis elegans)
    Secernentea rsp-86
    Protein RSP-8, isoform a
    11(a)
    1 → many
    III(11826215-11831475)
            Species with no ortholog for RBMY1F

    ENSEMBL Gene Tree for RBMY1F (if available)
    TreeFam Gene Tree for RBMY1F (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBMY1F gene
    RBMY1J1 2  RBMY1A11 2  RBMY1B1 2  RBMY1D1 2  RBMY1E1 2  TRA2B2  RBMXL22  RBMXL32  
    RBMXL12  CIRBP2  RBM32  RBMX2  TRA2A2  
    13 SIMAP similar genes for RBMY1F using alignment to 1 protein entry:     RBY1F_HUMAN:
    RBMY1B    RBMY1A1    RBMY1C    RBM    RBMY1D    RBMY1E
    RBMY1J    RBMX    CIRBP    RBMXL2    RBM38    RBM3
    RBMXL1

    RBMY1F for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    8 SNPs in RBMY1F are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr Y posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3761312971,2
    C--24326955(+) AAAAT-/ACACACA 1 -- int10--------
    rs3708223211,2
    ----24328613(+) CGACAC/TGTGCT 1 -- int10--------
    rs3687265411,2
    ----24328649(+) CAGTGG/TTTAAG 1 -- int10--------
    rs3746644151,2
    ----24328622(+) CTAACC/TAAAAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for RBMY1F (24314689 - 24329129 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for RBMY1F (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv515226CNV Loss21397061
    nsv471612CNV Loss15918152
    nsv10029CNV Gain18304495
    nsv10030CNV Gain18304495
    nsv10031CNV Gain18304495
    essv11423CNV CNV17122850
    essv15983CNV CNV17122850
    nsv442821CNV CNV18776908
    nsv442822CNV CNV18776908
    nsv515227CNV Complex21397061

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for RBMY1F:    About MalaCards
    azoospermia    gonadoblastoma    turner syndrome

    2 diseases from the University of Copenhagen DISEASES database for RBMY1F:
    Gonadoblastoma     Turner syndrome

    RBMY1F for disorders           About GeneDecksing


    Export disorders for RBMY1F gene to outside databases

    (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 RBMY1F gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RBMY1F)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)1, 2, 3 Skaletsky H.... Page D.C. (2003)
    2. 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)
    3. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. (PubMed id 8269511)1, 2 Ma K.... Jobling M. (1993)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    5. RBMY, a male germ cell-specific RNA-binding protein, activated in human liver cancers and transforms rodent fibroblasts. (PubMed id 15184870)1 Tsuei D.J....Chang M.H. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. (PubMed id 10749975)1 Venables J.P....Eperon E.C. (2000)
    8. 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 Chai N.-N.... Yen P.H. (1998)
    9. Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. (PubMed id 8875892)1 Prosser J.... Cooke H.J. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 159163 HGNC: 23974 AceView: MGC33094 Ensembl:ENSG00000169800 euGenes: HUgn159163
    ECgene: RBMY1F H-InvDB: RBMY1F

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for RBMY1F Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RBMY1F gene:
    Search GeneIP for patents involving RBMY1F

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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