RBMX
RNA-binding motif protein, X chromosome
Also known as: hnRNP-G, HNRNPG, RBMX_HUMAN, RNMX
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P38159
- Gene
- RBMX
- Ensembl
- ENSG00000147274
- Chromosome
- X
- Canonical length
- 391 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homomultimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
391 residues, UniProt reviewed canonical sequence.
>P38159|RBMX
1 MVEADRPGKL FIGGLNTETN EKALEAVFGK YGRIVEVLLM KDRETNKSRG FAFVTFESPA
61 DAKDAARDMN GKSLDGKAIK VEQATKPSFE SGRRGPPPPP RSRGPPRGLR GGRGGSGGTR
121 GPPSRGGHMD DGGYSMNFNM SSSRGPLPVK RGPPPRSGGP PPKRSAPSGP VRSSSGMGGR
181 APVSRGRDSY GGPPRREPLP SRRDVYLSPR DDGYSTKDSY SSRDYPSSRD TRDYAPPPRD
241 YTYRDYGHSS SRDDYPSRGY SDRDGYGRDR DYSDHPSGGS YRDSYESYGN SRSAPPTRGP
301 PPSYGGSSRY DDYSSSRDGY GGSRDSYSSS RSDLYSSGRD RVGRQERGLP PSMERGYPPP
361 RDSYSSSSRG APRGGGRGGS RSDRGGGRSR YLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RBMX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 218 nTPM
Expression across tissuesHPA
Tissue
- ovary: 218 nTPM
- thymus: 196 nTPM
- bone marrow: 163 nTPM
- tonsil: 136 nTPM
- endometrium: 133 nTPM
- skeletal muscle: 120 nTPM
Single-cell type
- epididymal basal cells: 362 nCPM
- myonuclei: 358 nCPM
- tuft cells: 357 nCPM
- extravillous trophoblasts: 353 nCPM
- erythrocyte progenitors: 352 nCPM
- pituicytes/fscs: 334 nCPM
Immune cell
- total PBMC: 303 nTPM
- naive CD4 T-cell: 233 nTPM
- T-reg: 204 nTPM
- MAIT T-cell: 200 nTPM
- memory B-cell: 195 nTPM
- naive CD8 T-cell: 193 nTPM
Brain region
- white matter: 86 nTPM
- medulla oblongata: 68 nTPM
- cerebellum: 65 nTPM
- spinal cord: 63 nTPM
- basal ganglia: 62 nTPM
- pons: 60 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RBMX.
Disease | AllUniProt
Conditions RBMX is implicated in, by any mechanism.
- Intellectual developmental disorder, X-linked, syndromic, Shashi type (MRXSSH) MIM:300238
- Intellectual developmental disorder, X-linked, syndromic, Gustavson type (MRXSG) MIM:309555
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 136 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- RBMX-related disorder
- Severe X-linked intellectual disability, Gustavson type
- Syndromic X-linked intellectual disability Shashi type
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.83
- gnomAD missense Z
- 2.9
- DepMap mean gene effect
- -1.76
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to interleukin-1
- membrane protein ectodomain proteolysis
- mRNA splicing, via spliceosome
- negative regulation of mRNA splicing, via spliceosome
- osteoblast differentiation
- positive regulation of mRNA splicing, via spliceosome
- positive regulation of transcription by RNA polymerase II
- protein homooligomerization
- regulation of alternative mRNA splicing, via spliceosome
- transcription by RNA polymerase II
Molecular functions
- chromatin binding
- identical protein binding
- mRNA binding
- protein domain specific binding
- RNA binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RBMX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RBMX as an antibody target. Whether an autoantibody or antibody against RBMX could matter depends on whether native RBMX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RBMX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RBMX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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