Seroatlas · Human Serome Atlas

RBMXL1

RNA binding motif protein, X-linked-like-1

Also known as: KAT3, RMXL1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96E39
Gene: RBMXL1
Ensembl: ENSG00000213516
Chromosome: 1
Canonical length: 390 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]

Canonical amino-acid sequenceUniProt

390 residues, UniProt reviewed canonical sequence.

>Q96E39|RBMXL1
     1  MVEADRPGKL FIGGLNTETN EKALETVFGK YGRIVEVLLI KDRETNKSRG FAFVTFESPA
    61  DAKDAARDMN GKSLDGKAIK VEQATKPSFE RGRHGPPPPP RSRGPPRGFG AGRGGSGGTR
   121  GPPSRGGHMD DGGYSMNFNM SSSRGPLPVK RGPPPRSGGP SPKRSAPSGL VRSSSGMGGR
   181  APLSRGRDSY GGPPRREPLP SRRDVYLSPR DDGYSTKDSY SSRDYPSSRD TRDYAPPPRD
   241  YTYRDYGHSS SRDDYPSRGY GDRDGYGRDR DYSDHPSGGS YRDSYESYGN SRSAPLTRGP
   301  PPSYGGSSRY DDYSSSRDGY GGSRDSYSSS RSDLYSSCDR VGRQERGLPP SVERGYPSSR
   361  DSYSSSSRGA PRGAGPGGSR SDRGGGRSRY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBMXL1 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: 15 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 15 nTPM
retina: 9.7 nTPM
esophagus: 9.6 nTPM
ovary: 9.6 nTPM
endometrium: 9.1 nTPM
liver: 9.1 nTPM

Single-cell type

epididymal basal cells: 5.7 nCPM
fallopian secretory cells: 4.9 nCPM
medullary thymic epithelial cells: 4.8 nCPM
lacrimal acinar cells: 4.5 nCPM
retinal horizontal cells: 4 nCPM
urothelial cells: 3.4 nCPM

Immune cell

neutrophil: 8.9 nTPM
non-classical monocyte: 7.9 nTPM
naive CD4 T-cell: 6.9 nTPM
total PBMC: 6.8 nTPM
intermediate monocyte: 6.2 nTPM
memory CD4 T-cell: 6.2 nTPM

Brain region

white matter: 26 nTPM
midbrain: 23 nTPM
hypothalamus: 23 nTPM
thalamus: 22 nTPM
basal ganglia: 22 nTPM
medulla oblongata: 22 nTPM

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): 0.92
gnomAD pLI: 0.03
gnomAD missense Z: 0.33
DepMap mean gene effect: -0.66
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

RNA binding

Cellular components

spliceosomal complex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RBMXL1 as an antibody target. Whether an autoantibody or antibody against RBMXL1 could matter depends on whether native RBMXL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBMXL1 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 RBMXL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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