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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RBMXL1
RBMX like 1
Chromosome 1 · 1p22.2
NCBI Gene: 494115Ensembl: ENSG00000213516.10HGNC: HGNC:25073UniProt: Q96E39
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA bindingmRNA splicing, via spliceosomespliceosomal complexorganellehypertensionleukemiaEpstein-Barr virus infectionAbnormality of the gastrointestinal tract
✦AI Summary

RBMXL1 is an RNA-binding protein that functions as a retrogene of RBMX, sharing >95% sequence identity 1. As a key post-transcriptional regulator, RBMXL1 participates in pre-mRNA splicing and mRNA binding 2. In myeloid leukemia, RBMXL1 and RBMX are overexpressed and required for leukemogenesis; they directly bind mRNAs and regulate transcription of multiple loci including CBX5 (HP1α), controlling chr1 state and leukemia cell survival 2. RBMXL1 expression is subject to translational regulation through alternative splicing of its 5'-UTR, which creates upstream open reading frames (uORFs) in activated B lymphocytes following EBV infection or CD40/IL-4 activation, providing fine-tuning of RBMX/RBMXL1 protein levels 1. Beyond malignancy, RBMXL1 contributes to heterochromatin maintenance by impeding alternate fate gene activation during cellular reprogramming 3. Clinically, RBMXL1 dysregulation associates with acute myeloid leukemia progression and represents a therapeutic target 2. Additionally, RBMXL1 variants showed nominal association with exceptional longevity in centenarians 4, and mutations have been identified in cutaneous melanoma and lung adenocarcinoma 5, 6, suggesting broader roles in cancer biology.

Sources cited
1
RBMXL1 overexpressed in AML, directly binds mRNAs, regulates CBX5 transcription, controls chromatin state and leukemia cell survival
PMID: 34458856
2
RBMXL1 is >95% identical to RBMX, undergoes alternative splicing in 5'-UTR creating uORFs that regulate translation in activated B lymphocytes
PMID: 40595907
3
RBMXL1 impedes gene induction during cellular reprogramming and is associated with sonication-resistant heterochromatin
PMID: 29272703
4
RBMXL1 variants showed nominal statistical significance associated with extreme aging in centenarian cohort
PMID: 29750252
5
RBMXL1 mutations identified in cutaneous malignant melanoma cell lines derived from metastatic lesions
PMID: 23704925
6
RBMXL1-I40M somatic A-to-I RNA editing mutation identified in lung adenocarcinoma genome-wide analysis
PMID: 36453714
Disease Associationsⓘ20
hypertensionOpen Targets
0.07Suggestive
leukemiaOpen Targets
0.05Suggestive
Epstein-Barr virus infectionOpen Targets
0.04Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.02Suggestive
acanthosis nigricansOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Myocardial IschemiaOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
Rubinstein-Taybi syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
myeloid leukemiaOpen Targets
0.01Suggestive
sarcomaOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
Ischemic strokeOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FRG1Shared pathway100%MFAP1Shared pathway100%PLRG1Shared pathway100%RBM10Shared pathway100%BUD31Shared pathway100%CIRSRShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
73%
Heart
63%
Ovary
53%
Liver
52%
Lung
38%
Gene Interaction Network
Click a node to explore
RBMXL1FRG1MFAP1PLRG1RBM10BUD31CIRSR
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96E39
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.44–0.95]
RankingsWhere RBMXL1 stands among ~20K protein-coding genes
  • #8,004of 20,598
    Most Researched57
  • #8,931of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedRBMXL1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
PMID: 34458856
Nat Cancer · 2021
1.00
2
Alternative splicing in the RBMXL1 5'-UTR induces uORF-mediated translation control in activated B lymphocytes.
PMID: 40595907
Sci Rep · 2025
0.88
3
Whole-Exome Sequencing of an Exceptional Longevity Cohort.
PMID: 29750252
J Gerontol A Biol Sci Med Sci · 2019
0.75
4
Somatic A-to-I RNA-edited RHOA isoform 2 specific-R176G mutation promotes tumor progression in lung adenocarcinoma.
PMID: 36453714
Mol Carcinog · 2023
0.63
5
Increased expression of miR-421 in human gastric carcinoma and its clinical association.
PMID: 19802518
J Gastroenterol · 2010
0.50