RBMX RNA binding motif protein X-linked [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBMXprovided by HGNC
Official Full Name: RNA binding motif protein X-linkedprovided by HGNC
Primary source: HGNC:HGNC:9910
See related: Ensembl:ENSG00000147274 MIM:300199; AllianceGenome:HGNC:9910
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: RNMX; HNRPG; MRXSG; MRXSH; HNRNPG; MRXS11; RBMXP1; RBMXRT; hnRNP-G
Summary: This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]
Expression: Ubiquitous expression in ovary (RPKM 77.9), lymph node (RPKM 53.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (136869192..136880725, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (135177914..135189452, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (135951351..135962884, complement)

Chromosome X - NC_000023.11 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?

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Title: Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
[RBMX overexpression inhibits proliferation, migration, invasion and glycolysis of human bladder cancer cells by downregulating PKM2].
Title: [RBMX overexpression inhibits proliferation, migration, invasion and glycolysis of human bladder cancer cells by downregulating PKM2].
Aberrant RBMX expression is relevant for cancer prognosis and immunotherapy response.
Title: Aberrant RBMX expression is relevant for cancer prognosis and immunotherapy response.
RBMX involves in telomere stability maintenance by regulating TERRA expression.
Title: RBMX involves in telomere stability maintenance by regulating TERRA expression.
The Role of Alternative Splicing Factors hnRNP G and Fox-2 in the Progression and Prognosis of Esophageal Cancer.
Title: The Role of Alternative Splicing Factors hnRNP G and Fox-2 in the Progression and Prognosis of Esophageal Cancer.
Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
Title: Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects.
Title: Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects.
RBMX is required for activation of ATR on repetitive DNAs to maintain genome stability.
Title: RBMX is required for activation of ATR on repetitive DNAs to maintain genome stability.
RBMX suppresses tumorigenicity and progression of bladder cancer by interacting with the hnRNP A1 protein to regulate PKM alternative splicing.
Title: RBMX suppresses tumorigenicity and progression of bladder cancer by interacting with the hnRNP A1 protein to regulate PKM alternative splicing.
hnRNPG associates co-transcriptionally with RNAPII and regulates alternative splicing transcriptome-wide. m(6)A near splice sites in nascent pre-mRNA modulates hnRNPG binding, which influences RNAPII occupancy patterns and promotes exon inclusion.
Title: Regulation of Co-transcriptional Pre-mRNA Splicing by m(6)A through the Low-Complexity Protein hnRNPG.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Severe X-linked intellectual disability, Gustavson type MedGen: C0795965 OMIM: 309555 GeneReviews: Not available	not available
Syndromic X-linked intellectual disability Shashi type MedGen: C1846145 OMIM: 300238 GeneReviews: Not available	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
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify X-linked RNA binding motif protein (RBMX; hnRNP-G), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify X-linked RNA binding motif protein (RBMX; hnRNP-G), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify X-linked RNA binding motif protein (RBMX; hnRNP-G), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify X-linked RNA binding motif protein (RBMX; hnRNP-G), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	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

WI-11365 (e-PCR)
- UniSTS:51472

DXS7491 (e-PCR)
- UniSTS:29985

G42696 (e-PCR)
- UniSTS:140883

RH45175 (e-PCR)
- UniSTS:44533

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	NAS Non-traceable Author Statement more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to interleukin-1	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in positive regulation of mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	NAS Non-traceable Author Statement more info	PubMed
part_of spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info
part_of supraspliceosomal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RNA-binding motif protein, X chromosome

Names: glycoprotein p43; heterogeneous nuclear ribonucleoprotein G; hnRNP G

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_012918.1 RefSeqGene

Range

5056..12320

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164803.2 → NP_001158275.1 RNA-binding motif protein, X chromosome isoform 2

See identical proteins and their annotated locations for NP_001158275.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several alternate exon and contains a different 3' end, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus when it is compared to variant 1.

Source sequence(s)

AK304868, AL683813, BM147410, BX647131, DC337568

Consensus CDS

CCDS55510.1

UniProtKB/Swiss-Prot

P38159

Related

ENSP00000411989.3, ENST00000431446.7

Conserved Domains (2) summary

COG0724
Location:9 → 75

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12382
Location:7 → 75

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
NM_002139.4 → NP_002130.2 RNA-binding motif protein, X chromosome isoform 1

See identical proteins and their annotated locations for NP_002130.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the more frequently occurring transcript and it encodes the longer protein (isoform 1).

Source sequence(s)

BC007435, BM147410, DC337568

Consensus CDS

CCDS14661.1

UniProtKB/Swiss-Prot

B4E3U4, D3DWH0, E9PG86, P38159, Q5JQ67, Q8N8Y7, Q969R3

UniProtKB/TrEMBL

Q2VIN3

Related

ENSP00000359645.3, ENST00000320676.11

Conserved Domains (3) summary

PRK14086
Location:165 → 306

dnaA; chromosomal replication initiator protein DnaA

pfam08081
Location:173 → 217

RBM1CTR; RBM1CTR (NUC064) family

cd12382
Location:7 → 86

RRM_RBMX_like; RNA recognition motif (RRM) found 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

RNA

NR_028476.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK091520, DA925805

Related

ENST00000464781.5
NR_028477.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK096015, AK304573, BM147410, BM993214, DC337568