Seroatlas · Human Serome Atlas

RBM28

RNA-binding protein 28

Also known as: FLJ10377, RBM28_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NW13
Gene: RBM28
Ensembl: ENSG00000106344
Chromosome: 7
Canonical length: 759 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli

OverviewNCBI Gene

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

759 residues, UniProt reviewed canonical sequence.

>Q9NW13|RBM28
     1  MAGLTLFVGR LPPSARSEQL EELFSQVGPV KQCFVVTEKG SKACRGFGYV TFSMLEDVQR
    61  ALKEITTFEG CKINVTVAKK KLRNKTKEKG KNENSECPKK EPKAKKAKVA DKKARLIIRN
   121  LSFKCSEDDL KTVFAQFGAV LEVNIPRKPD GKMRGFGFVQ FKNLLEAGKA LKGMNMKEIK
   181  GRTVAVDWAV AKDKYKDTQS VSAIGEEKSH ESKHQESVKK KGREEEDMEE EENDDDDDDD
   241  DEEDGVFDDE DEEEENIESK VTKPVQIQKR AVKRPAPAKS SDHSEEDSDL EESDSIDDGE
   301  ELAQSDTSTE EQEDKAVQVS NKKKRKLPSD VNEGKTVFIR NLSFDSEEEE LGELLQQFGE
   361  LKYVRIVLHP DTEHSKGCAF AQFMTQEAAQ KCLLAASPEN EAGGLKLDGR QLKVDLAVTR
   421  DEAAKLQTTK VKKPTGTRNL YLAREGLIRA GTKAAEGVSA ADMAKRERFE LLKHQKLKDQ
   481  NIFVSRTRLC LHNLPKAVDD KQLRKLLLSA TSGEKGVRIK ECRVMRDLKG VHGNMKGQSL
   541  GYAFAEFQEH EHALKALRLI NNNPEIFGPL KRPIVEFSLE DRRKLKMKEL RIQRSLQKMR
   601  SKPATGEPQK GQPEPAKDQQ QKAAQHHTEE QSKVPPEQKR KAGSTSWTGF QTKAEVEQVE
   661  LPDGKKRRKV LALPSHRGPK IRLRDKGKVK PVHPKKPKPQ INQWKQEKQQ LSSEQVSRKK
   721  AKGNKTETRF NQLVEQYKQK LLGPSKGAPL AKRSKWFDS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBM28 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): 0.49
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 27 nTPM
heart muscle: 18 nTPM
adipose tissue: 17 nTPM
tongue: 17 nTPM
testis: 15 nTPM
appendix: 14 nTPM

Single-cell type

myonuclei: 147 nCPM
cardiomyocytes: 92 nCPM
adipocytes: 90 nCPM
astrocytes: 78 nCPM
bergmann glia: 78 nCPM
differentiating spermatogonia: 77 nCPM

Immune cell

plasmacytoid DC: 14 nTPM
naive B-cell: 14 nTPM
memory B-cell: 13 nTPM
gdT-cell: 13 nTPM
NK-cell: 12 nTPM
memory CD8 T-cell: 12 nTPM

Brain region

white matter: 34 nTPM
hypothalamus: 27 nTPM
basal ganglia: 27 nTPM
thalamus: 26 nTPM
pons: 25 nTPM
medulla oblongata: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBM28.

Disease | AllUniProt

Conditions RBM28 is implicated in, by any mechanism.

Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) MIM:612079

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

ANE syndrome

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): 0.82
gnomAD pLI: 0
gnomAD missense Z: 0.18
DepMap mean gene effect: -0.65
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RBM28 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 RBM28 as an antibody target. Whether an autoantibody or antibody against RBM28 could matter depends on whether native RBM28 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBM28 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 RBM28 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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