Seroatlas · Human Serome Atlas

RBM48

RNA-binding protein 48

Also known as: C7orf64, DKFZp564O0523, HSPC304, RBM48_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5RL73
Gene: RBM48
Ensembl: ENSG00000127993
Chromosome: 7
Canonical length: 367 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Predicted to enable RNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

367 residues, UniProt reviewed canonical sequence.

>Q5RL73|RBM48
     1  MASSGGELGS LFDHHVQRAV CDTRAKYREG RRPRAVKVYT INLESQYLLI QGVPAVGVMK
    61  ELVERFALYG AIEQYNALDE YPAEDFTEVY LIKFMNLQSA RTAKRKMDEQ SFFGGLLHVC
   121  YAPEFETVEE TRKKLQMRKA YVVKTTENKD HYVTKKKLVT EHKDTEDFRQ DFHSEMSGFC
   181  KAALNTSAGN SNPYLPYSCE LPLCYFSSKC MCSSGGPVDR APDSSKDGRN HHKTMGHYNH
   241  NDSLRKTQIN SLKNSVACPG AQKAITSSEA VDRFMPRTTQ LQERKRRRED DRKLGTFLQT
   301  NPTGNEIMIG PLLPDISKVD MHDDSLNTTA NLIRHKLKEV ISSVPKPPED KPEDVHTSHP
   361  LKQRRRI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBM48 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): 0.54
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 13 nTPM
spinal cord: 9.2 nTPM
skeletal muscle: 9 nTPM
cerebellum: 8.9 nTPM
midbrain: 8.3 nTPM
cerebral cortex: 8.2 nTPM

Single-cell type

oligodendrocytes: 50 nCPM
myonuclei: 35 nCPM
oocytes: 32 nCPM
esophageal apical cells: 32 nCPM
b-cells: 31 nCPM
nk-cells: 31 nCPM

Immune cell

basophil: 68 nTPM
naive CD4 T-cell: 32 nTPM
eosinophil: 30 nTPM
naive B-cell: 29 nTPM
memory B-cell: 29 nTPM
naive CD8 T-cell: 27 nTPM

Brain region

white matter: 24 nTPM
cerebral cortex: 22 nTPM
cerebellum: 21 nTPM
basal ganglia: 19 nTPM
pons: 19 nTPM
thalamus: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBM48.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 98 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nephronophthisis

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): 1.3
gnomAD pLI: 0
gnomAD missense Z: 0.32
DepMap mean gene effect: -0.66
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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

Protein domainsUniProt · Pfam · InterPro

RNA-binding domain superfamily
RBM48, RNA recognition motif
RNA-binding protein 48

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RBM48 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 RBM48 as an antibody target. Whether an autoantibody or antibody against RBM48 could matter depends on whether native RBM48 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBM48 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 RBM48 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...