RBMXL1
RNA Binding Motif Protein, X-Linked Like 1
Gene Information Card
| Symbol | RBMXL1 |
|---|---|
| Full Name | RNA binding motif protein, X-linked like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 494115 ncbi.nlm.nih.gov/gene/494115 |
| Ensembl ID | ENSG00000182389 |
| UniProt ID | Q96E39 |
| OMIM ID | 300708 |
| HGNC ID | 30086 |
| Aliases | HNRPGT, MGC129660, MGC129661 |
Description
RBMXL1 (RNA binding motif protein, X-linked like 1) is a protein-coding gene located on the X chromosome. It encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, involved in RNA processing, splicing, and transport. The protein contains RNA recognition motifs and is thought to play a role in spermatogenesis and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.1 | Low |
| Lung | 4.3 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleotide binding |
| • mRNA processing | • spliceosomal complex |
| • nucleus |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
The RBMXL1 protein is a 391-amino acid RNA-binding protein containing two N-terminal RNA recognition motifs (RRMs). It localizes to the nucleus and is involved in pre-mRNA splicing. The protein shares high similarity with the RBMX gene product and is expressed predominantly in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMXL1 Knockout HEK293 Cell Line | EDJ-KQ52362 | Human | 494115 | Details Get a Quote |
| RBMXL1 Knockout HeLa Cell Line | EDJ-KQ60477 | Human | 494115 | Details Get a Quote |
| RBMXL1 Knockout A-549 Cell Line | EDJ-KQ68947 | Human | 494115 | Details Get a Quote |
| RBMXL1 Knockout HCT 116 Cell Line | EDJ-KQ77306 | Human | 494115 | Details Get a Quote |
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