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

Summary

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

Location:: Yq11.223

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (21534879..21559683)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (22410130..22434934)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (23696765..23711212)

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis.
Title: PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis.
Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.
Title: Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.
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.
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.
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).
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.
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.
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}.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

sY627 (e-PCR)
- UniSTS:243207

RBMY (e-PCR)
- UniSTS:257055

DYS41 (e-PCR)
- UniSTS:73272

RH38683 (e-PCR)
- UniSTS:85616

G65850 (e-PCR)
- UniSTS:230516

G65856 (e-PCR)
- UniSTS:230522

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

NG_012805.2 RefSeqGene

Range

5002..19449

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000024.10 Reference GRCh38.p14 Primary Assembly

Range

21534879..21559683

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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