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RBMY1F Gene

protein-coding   GIFtS: 43
GCID: GC0YM024314

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

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Aliases
for RBMY1F gene

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


Summaries
for RBMY1F gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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




Genomic Views
for RBMY1F 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000024.9  NT_011903.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBMY1F gene promoter:
         POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RBMY1F promoter sequence
   Search Chromatin IP Primers for RBMY1F

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Proteins
for RBMY1F gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See RBMY1F Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689798.1  
    ENSEMBL proteins: 
     ENSP00000307155   ENSP00000406005  

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    Domains /
    Families
    for RBMY1F gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 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


    Find genes that share domains with RBMY1F           About GenesLikeMe


    Function
    for RBMY1F gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
         
    Find genes that share ontologies with RBMY1F           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RBMY1F

    miRNA
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    Localization
    for RBMY1F gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBY1F_HUMAN, Q15415: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with RBMY1F           About GenesLikeMe


    Pathways & Interactions
    for RBMY1F gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBMY1F
    Interactions:

        Search GeneGlobe Interaction Network for RBMY1F

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for RBMY1F (Q154153 ENSP000003071554) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPKP619783I2D: score=1 
    BUD31ENSP000002229694STRING: ENSP00000222969
    CRNKL1ENSP000003665574STRING: ENSP00000366557
    ISY1ENSP000003769734STRING: ENSP00000376973
    PLRG1ENSP000003031914STRING: ENSP00000303191
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

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

    Find genes that share ontologies with RBMY1F           About GenesLikeMe



    Drugs & Compounds
    for RBMY1F gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for RBMY1F (RBY1F)



    Transcripts
    for RBMY1F gene

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
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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


    Expression
    for RBMY1F 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    RBMY1F Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    RBMY1F Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567746

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

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    Orthologs
    for RBMY1F 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RBMY1F gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RBMX6
    		 Gallus gallus RNA binding motif protein, X-linked ...
    		 62(a)
    		 1 → many
    		 4(4390057-4400409)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 Uncharacterized protein
    		 58(a)
    		 1 → many
    		 GL343562.1(327293-337930)
    zebrafish
    (Danio rerio)    		 Actinopterygii rbmx6
    		 RNA binding motif protein, X-linked
    		 51(a)
    		 1 → many
    		 14(32725471-32732600) ENSDARG00000014244
    fruit fly
    (Drosophila melanogaster)    		 Insecta tra26
    		 transformer 2
    		 15(a)
    		 1 → many
    		 2R(10489509-10491857)
    worm
    (Caenorhabditis elegans)    		 Secernentea rsp-86
    		 Protein RSP-8, isoform a
    		 19(a)
    		 1 → many
    		 III(11826215-11831475) WBGene00004705
            Species with no ortholog for RBMY1F

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

    Paralogs
    for RBMY1F gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with RBMY1F           About GenesLikeMe



    Genomic Variants
    for RBMY1F gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    8 SNPs for RBMY1F    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) Selected 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

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    Disorders / Diseases
    for RBMY1F gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 2 inferred disease relationships from the University of Copenhagen DISEASES database for RBMY1F:
    Gonadoblastoma     Turner syndrome

    Find genes that share disorders with RBMY1F           About GenesLikeMe


    Export disorders for RBMY1F gene to outside databases

    Publications
    for RBMY1F 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

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    PubMed articles for RBMY1F gene integrated from 10 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. (Nature 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. (Genome Res. 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. (Cell 1993)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 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. (Oncogene 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. (Proc. Natl. Acad. Sci. U.S.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. (Hum. Mol. Genet. 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. (Genomics 1998)
    9. Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. (PubMed id 8875892)1 Prosser J.... Cooke H.J. (Mamm. Genome 1996)

    External Searches for RBMY1F gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing RBMY1F gene

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    Entrez Gene: 159163 HGNC: 23974 AceView: MGC33094 Ensembl:ENSG00000169800 euGenes: HUgn159163
    ECgene: RBMY1F H-InvDB: RBMY1F

    Other Databases showing RBMY1F gene

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    Specialized Databases showing RBMY1F gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    PharmGKB entry for RBMY1F Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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