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RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 [ Homo sapiens (human) ]

Gene ID: 5940, updated on 3-Apr-2024

Summary

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Official Symbol
RBMY1A1provided by HGNC
Official Full Name
RNA binding motif protein Y-linked family 1 member A1provided by HGNC
Primary source
HGNC:HGNC:9912
See related
Ensembl:ENSG00000234414 MIM:400006; AllianceGenome:HGNC:9912
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
RBM; RBM1; RBM2; RBMY; YRRM1; YRRM2; RBMY1C
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 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]
Expression
Restricted expression toward testis (RPKM 10.4) See more
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Genomic context

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See RBMY1A1 in Genome Data Viewer
Location:
Yq11.223
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (21534879..21559683)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (22410130..22434934)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (23696765..23711212)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein Y-linked family 1 member H, pseudogene Neighboring gene RNA binding motif protein Y-linked family 1 member B Neighboring gene testis expressed transcript, Y-linked 13 Neighboring gene elongin C pseudogene 5

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
  • 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. Copy number variation of functional RBMY1 is associated with sperm motility: an azoospermia factor-linked candidate for asthenozoospermia. Yan Y, et al. Hum Reprod, 2017 Jul 1. PMID 28498920
  2. RBMY, a novel inhibitor of glycogen synthase kinase 3β, increases tumor stemness and predicts poor prognosis of hepatocellular carcinoma. Chua HH, et al. Hepatology, 2015 Nov. PMID 26185016
  3. Expression analysis of RNA-binding motif gene on Y chromosome (RBMY) protein isoforms in testis tissue and a testicular germ cell cancer-derived cell line (NT2). Alikhani M, et al. Iran Biomed J, 2013 Apr. PMID 23567846, Free PMC Article
  4. Cellular ontogeny of RBMY during human spermatogenesis and its role in sperm motility. Abid S, et al. J Biosci, 2013 Mar. PMID 23385816
  5. Identifying mRNAs bound by human RBMY protein in the testis. Zeng M, et al. J Reprod Dev, 2011 Feb. PMID 21422736

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis.
    Title: PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis.
  2. Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.
    Title: Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.
  3. genetic association study in population in southwest China: Data suggest that copy number variation in RBMY1 is associated with sperm motility and asthenozoospermia; RBMY1 functional copy dosage is positively correlated with sperm motility; dosage insufficiency is independent genetic risk factor for asthenozoospermia; RBMY1 is an important candidate for male infertility in azoospermia factor (AZF) region of Y-chromosome.
    Title: Copy number variation of functional RBMY1 is associated with sperm motility: an azoospermia factor-linked candidate for asthenozoospermia.
  4. RBMY is a novel oncofetal protein that plays a key role in attenuating glycogen synthase kinase 3beta activity, leading to aberrant activation of Wnt/beta-catenin signaling, which facilitates malignant hepatic stemness.
    Title: RBMY, a novel inhibitor of glycogen synthase kinase 3β, increases tumor stemness and predicts poor prognosis of hepatocellular carcinoma.
  5. results imply that different alternative splicing may happen in testis cells and probably difference of RBMY function during spermatogenesis is due to the differential expression of RBMY protein isoforms.
    Title: Expression analysis of RNA-binding motif gene on Y chromosome (RBMY) protein isoforms in testis tissue and a testicular germ cell cancer-derived cell line (NT2).
  6. One possible function of RBMY could be its involvement in sperm motility.
    Title: Cellular ontogeny of RBMY during human spermatogenesis and its role in sperm motility.
  7. investigation of role of RBMY in spermatogenesis: isolation and identification of RBMY target mRNAs in testis; RBMY binds to only transcript variant 2 of Nek10; RBMY may take part in alternative splicing of Nek10
    Title: Identifying mRNAs bound by human RBMY protein in the testis.
  8. regulates germline-specific splicing events; ectopic expression stimulated the inclusion of a testis-enriched exon
    Title: Human RBMY regulates germline-specific splicing events by modulating the function of the serine/arginine-rich proteins 9G8 and Tra2-{beta}.
  9. germ cell-specific RBMY and hnRNP G-T proteins were more efficient in stimulating TLE4-T incorporation than somatically expressed hnRNP G protein.
    Title: The germ cell nuclear proteins hnRNP G-T and RBMY activate a testis-specific exon.
  10. Patients with complete Sertoli cell-only syndrome (SCOS) did not exhibit RBMY1 gene expression.
    Title: Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spermatogenic failure, Y-linked, 2
MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
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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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with RNA binding motif protein, Y-linked, family 1, member A1 (RBMY1A1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC181956

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  
involved_in regulation of alternative mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
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 A1
Names
RNA-binding motif protein 2
RNA-binding motif protein, Y chromosome, family 1 member A1/C
Y chromosome RNA recognition motif 1
Y chromosome RNA recognition motif 2

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.

Genomic

  1. NG_012805.2 RefSeqGene

    Range
    5002..19449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320944.2 → NP_001307873.1  RNA-binding motif protein, Y chromosome, family 1 member A1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    BC070298, BX119894, CB107177
    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

  2. NM_001320945.2 → NP_001307874.1  RNA-binding motif protein, Y chromosome, family 1 member A1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    BC047768, CB107177
    UniProtKB/Swiss-Prot
    P0DJD3
    Conserved Domains (1) summary
    pfam08081
    Location:34 → 78
    RBM1CTR; RBM1CTR (NUC064) family

  3. NM_005058.4 → NP_005049.1  RNA-binding motif protein, Y chromosome, family 1 member A1 isoform 1

    See identical proteins and their annotated locations for NP_005049.1

    Status: REVIEWED

    Source sequence(s)
    BX119894, CB107177, X76059
    Consensus CDS
    CCDS14796.1
    UniProtKB/Swiss-Prot
    P0DJD3, P0DJD4, Q15376, Q15377, Q15414, Q6NSB5, Q86VU6, Q8NHR0
    Related
    ENSP00000372154.2, ENST00000382707.6
    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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    21534879..21559683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531437.3 → XP_011529739.1  RNA-binding motif protein, Y chromosome, family 1 member A1 isoform X1

    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    22410130..22434934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328317.1 → XP_054184292.1  RNA-binding motif protein, Y chromosome, family 1 member A1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DJD3.1 GenPept UniProtKB/Swiss-Prot:P0DJD3

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