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    RBMY1D RNA binding motif protein Y-linked family 1 member D [ Homo sapiens (human) ]

    Gene ID: 378949, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RBMY1Dprovided by HGNC
    Official Full Name
    RNA binding motif protein Y-linked family 1 member Dprovided by HGNC
    Primary source
    HGNC:HGNC:23915
    See related
    Ensembl:ENSG00000244395 AllianceGenome:HGNC:23915
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBM1; RBM2; YRRM1; YRRM2; hRBMY; RBMY1A1
    Summary
    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 likely functions as a splicing factor 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]
    Expression
    Restricted expression toward testis (RPKM 6.2) See more
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    Genomic context

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    See RBMY1D in Genome Data Viewer
    Location:
    Yq11.223
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (21868431..21900746, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (22703948..22736261, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (24026223..24040673, complement)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377236 Neighboring gene OFD1 pseudogene 16 Y-linked Neighboring gene uncharacterized LOC105377237 Neighboring gene RNA binding motif protein Y-linked family 1 member E Neighboring gene RNA binding motif protein Y-linked family 2 member A, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. RBMY, a male germ cell-specific RNA-binding protein, activated in human liver cancers and transforms rodent fibroblasts. Tsuei DJ, et al. Oncogene, 2004 Jul 29. PMID 15184870
    2. Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. Prosser J, et al. Mamm Genome, 1996 Nov. PMID 8875892
    3. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Ma K, et al. Cell, 1993 Dec 31. PMID 8269511
    4. Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. Chai NN, et al. Genomics, 1998 Apr 15. PMID 9598316
    5. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding motif protein, Y chromosome, family 1 member D
    Names
    RNA-binding motif protein 1
    RNA-binding motif protein 2
    RNA-binding motif protein, Y chromosome, family 1 member A1
    Y chromosome RNA recognition motif 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001006120.3 → NP_001006120.2  RNA-binding motif protein, Y chromosome, family 1 member D isoform 1

      See identical proteins and their annotated locations for NP_001006120.2

      Status: REVIEWED

      Source sequence(s)
      AC007322
      Consensus CDS
      CCDS35480.1
      UniProtKB/Swiss-Prot
      B7ZMD9, P0C7P1, P0DJD4
      Related
      ENSP00000372127.1, ENST00000382680.5
      Conserved Domains (3) summary
      COG0724
      Location:1 → 189
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 85
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:174 → 218
      RBM1CTR; RBM1CTR (NUC064) family

    2. NM_001320949.1 → NP_001307878.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007322
      Consensus CDS
      CCDS83521.1
      UniProtKB/TrEMBL
      B7ZMC0
      Related
      ENSP00000399181.2, ENST00000418956.2
      Conserved Domains (3) summary
      COG0724
      Location:1 → 189
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 85
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:174 → 218
      RBM1CTR; RBM1CTR (NUC064) family

    3. NM_001320950.1 → NP_001307879.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes isoform 3, which has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC007322, BC144423
      UniProtKB/TrEMBL
      B7ZMC0
      Conserved Domains (3) summary
      COG0724
      Location:20 → 165
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      pfam08081
      Location:150 → 194
      RBM1CTR; RBM1CTR (NUC064) family
      cl17169
      Location:17 → 61
      RRM_SF; RNA recognition motif (RRM) superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      21868431..21900746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531487.4 → XP_011529789.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X2

      UniProtKB/Swiss-Prot
      P0DJD4
      Conserved Domains (4) summary
      PHA02896
      Location:247 → 362
      PHA02896; A-type inclusion like protein; Provisional
      COG0724
      Location:1 → 189
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 85
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:174 → 218
      RBM1CTR; RBM1CTR (NUC064) family

    2. XM_011531488.4 → XP_011529790.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X3

      See identical proteins and their annotated locations for XP_011529790.1

      UniProtKB/Swiss-Prot
      P0DJD4
      Conserved Domains (3) summary
      COG0724
      Location:1 → 189
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 85
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:174 → 218
      RBM1CTR; RBM1CTR (NUC064) family

    3. XM_011531486.2 → XP_011529788.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X1

      See identical proteins and their annotated locations for XP_011529788.1

      UniProtKB/Swiss-Prot
      B7ZMD9, P0C7P1, P0DJD4
      Conserved Domains (3) summary
      COG0724
      Location:1 → 189
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 85
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:174 → 218
      RBM1CTR; RBM1CTR (NUC064) family

    4. XM_011531489.2 → XP_011529791.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X4

      UniProtKB/TrEMBL
      B7ZMC0
      Conserved Domains (3) summary
      COG0724
      Location:1 → 189
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12382
      Location:7 → 85
      RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
      pfam08081
      Location:174 → 218
      RBM1CTR; RBM1CTR (NUC064) family

    5. XM_047442737.1 → XP_047298693.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      22703948..22736261 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328301.1 → XP_054184276.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X6

    2. XM_054328300.1 → XP_054184275.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X1

      UniProtKB/Swiss-Prot
      P0DJD3, Q15376, Q15377, Q15414, Q6NSB5, Q86VU6, Q8NHR0

    3. XM_054328302.1 → XP_054184277.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X7

    4. XM_054328303.1 → XP_054184278.1  RNA-binding motif protein, Y chromosome, family 1 member D isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7P1.1 GenPept UniProtKB/Swiss-Prot:P0C7P1

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