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

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:9912
See related: Ensembl:ENSG00000234414; HPRD:02450; MIM:400006; Vega:OTTHUMG00000043592
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. 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]

Genomic context

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Location :: Yq11.223

Sequence :: Chromosome: Y; NC_000024.9 (23696799..23711212)

See RBMY1A1 in Epigenomics, MapViewer

Chromosome Y - NC_000024.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Using systematic evolution of ligands by exponential enrichment, we found that RNA stem-loops capped by a C(A)/(U)CAA pentaloop are high-affinity binding targets for hRBMY.
Title: The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction.
Quantitative real-time PCR assays of this protein gave positive predictive values of 70 per cent for the recovery of sperm from testicular biopsy.
Title: Investigation of DAZ and RBMY1 gene expression in human testis by quantitative real-time PCR.
RNA transport element RTE evolved as a high affinity RBM15 ligand to provide a splicing-independent link to NXF1, thereby ensuring efficient nuclear export and expression of retrotransposon transcripts
Title: RNA-binding motif protein 15 binds to the RNA transport element RTE and provides a direct link to the NXF1 export pathway.
RBMY is a new candidate oncogene specific for male liver cancer
Title: RBMY, a male germ cell-specific RNA-binding protein, activated in human liver cancers and transforms rodent fibroblasts.
analyse the presence of DAZ, RBMY1, USP9Y, protamine-2, SRY and actin messenger RNA (mRNA) in testicular cells of men suffering from idiopathic azoospermia (RBMY1)
Title: A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Spermatogenic failure, Y-linked 2

MIM: 415000

Genetic Testing Registry

Summary from GeneReviews: Y Chromosome Infertility

Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 10(6) sperm/mL semen), moderate oligozoospermia (1-5 x 10(6) sperm/mL semen), or mild oligozoospermia (5-20 x 10(6) sperm/mL semen). Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes.

Diagnosis Testing

The diagnosis of Y chromosome infertility is suspected in otherwise healthy males with azoospermia or oligozoospermia and/or abnormal sperm morphology/motility for whom other causes of infertility have been eliminated. Chromosomal microarray (CMA) or routine cytogenetic testing reveals chromosome abnormalities in 5%-10% of these men. Molecular testing reveals microdeletions of the long arm of the Y chromosome in another 5%-13% of these males. Such molecular genetic testing is available clinically.

Genetic Counseling

Y chromosome infertility is inherited in a Y-linked manner. Because males with Y chromosome deletions are infertile, the deletions are usually de novo and therefore not present in the father of the proband. Despite their severely impaired spermatogenesis, some males with deletion of the AZF regions have occasionally spontaneously fathered sons who are infertile. This will occur in about 4% of couples with severe oligospermia if the female partner is young and very fertile. In pregnancies achieved using ICSI, male offspring have the same deletion as their father, with a high risk of male infertility. Note that certain Y deletions, including the most common Y deletions (gr/gr), do not necessarily cause infertility, but are only a risk factor for infertility. Female fetuses from a father with a Y chromosome deletion have no increased risk of congenital abnormalities or infertility. In pregnancies conceived through assisted reproductive technology (ART) and known to be at risk of resulting in a male with Y chromosome deletion, specific prenatal testing or preimplantation testing could be performed to determine the sex of the fetus and/or the presence of the Y chromosome deletion.

References

PMID: 20301513

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Vpu, p16	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 Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q15414	O75525	KHDRBS3	HPRD	PubMed
Q15414	P84103	SRSF3	HPRD	PubMed
Q15414	Q13242	SRSF9	HPRD	PubMed
Q15414	P62995	TRA2B	HPRD	PubMed
BioGRID:111875	BioGRID:112872	TERF1	BioGRID	PubMed	Two-hybrid
BioGRID:111875	BioGRID:113363	YWHAE	BioGRID	PubMed	Affinity Capture-MS

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

Genotypes

Related pseudogene(s)

24 found Review record(s) in Gene

Homology

OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

MGC181956

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
mRNA binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
RNA splicing	IEA Inferred from Electronic Annotation more info
mRNA processing	IEA Inferred from Electronic Annotation more info
regulation of alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation 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, Y chromosome, family 1 member A1; RNA binding protein; RNA-binding motif protein 1; RNA-binding motif protein 2; y chromosome RNA recognition motif 1; RNA binding motif protein, Y chromosome, family 1, member A1; RNA-binding motif protein, Y chromosome, family 1 member A1/C

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_004832.1 Reference

Range

224244..238666

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GenBank, FASTA, Sequence Viewer (Graphics)
NG_012805.1 RefSeqGene

Range

5001..19414

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005058.2 → NP_005049.1 RNA-binding motif protein, Y chromosome, family 1 member A1

Status: REVIEWED

Source sequence(s)

BU568309, BX119894, X76059

Consensus CDS

CCDS14796.1

UniProtKB/Swiss-Prot

P0DJD3

Related

ENSP00000372154, OTTHUMP00000040529, ENST00000382707, OTTHUMT00000101933

Conserved Domains (2) summary

cd00590
Location:9 – 81
Blast Score: 260

RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

pfam08081
Location:175 – 218
Blast Score: 129

RBM1CTR; RBM1CTR (NUC064) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000024.9 Reference GRCh37.p10 Primary Assembly

Range

23696799..23711212

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000156.1 Alternate HuRef

Range

17242807..17254657

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001007526.1: Suppressed sequence

Description

NM_001007526.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01049542.1 (328..12178)	None
genomic	AC010141.2 (77021..91443)	None
genomic	U37766.1	AAB49819.1
mRNA	BC047768.1	AAH47768.1
mRNA	BC070298.1	AAH70298.1
mRNA	BC146853.1	AAI46854.1
mRNA	BU568309.1	None
mRNA	BX119894.1	None
mRNA	X76059.1	CAA53659.1
other-genetic	HQ447544.1	ADQ32030.1