RBMY1B RNA binding motif protein Y-linked family 1 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBMY1Bprovided by HGNC
Official Full Name: RNA binding motif protein Y-linked family 1 member Bprovided by HGNC
Primary source: HGNC:HGNC:23914
See related: Ensembl:ENSG00000242875 AllianceGenome:HGNC:23914
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: RBMY1D
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 6.4) See more
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Genomic context

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 (21511338..21527216)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (22386600..22402467)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (23673224..23687672)

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.
Title: Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.

Submit: New GeneRIF Correction

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)

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 RNA binding	NAS Non-traceable Author Statement 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 male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	TAS Traceable Author Statement 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
located_in nucleus	TAS Traceable Author Statement more info	PubMed
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 B

Names: RNA-binding motif protein, Y chromosome, family 1 member D

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)

NM_001006121.4 → NP_001006121.1 RNA-binding motif protein, Y chromosome, family 1 member B isoform 1

See identical proteins and their annotated locations for NP_001006121.1

Status: REVIEWED

Source sequence(s)

AC010141

Consensus CDS

CCDS35479.1

UniProtKB/Swiss-Prot

A6NCZ8, A6NDE4, A6NE80, A8MSJ6, P0DJD4

Related

ENSP00000372484.3, ENST00000383020.7

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_001320948.2 → NP_001307877.1 RNA-binding motif protein, Y chromosome, family 1 member B isoform 2

Status: REVIEWED

Source sequence(s)

AC010141, BC140758

UniProtKB/TrEMBL

B7ZMC0, B9EIP3

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

NC_000024.10 Reference GRCh38.p14 Primary Assembly

Range

21511338..21527216

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017030056.2 → XP_016885545.1 RNA-binding motif protein, Y chromosome, family 1 member B isoform X1

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
XM_047442736.1 → XP_047298692.1 RNA-binding motif protein, Y chromosome, family 1 member B isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060948.1 Alternate T2T-CHM13v2.0

Range

22386600..22402467

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328298.1 → XP_054184273.1 RNA-binding motif protein, Y chromosome, family 1 member B isoform X1
XM_054328299.1 → XP_054184274.1 RNA-binding motif protein, Y chromosome, family 1 member B isoform X2