Seroatlas · Human Serome Atlas

MSRB3

Methionine-R-sulfoxide reductase B3

Also known as: DFNB74, DKFZp686C1178, FLJ36866, MSRB3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8IXL7
Gene: MSRB3
Ensembl: ENSG00000174099
Chromosome: 12
Canonical length: 192 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Secretome location: Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

192 residues, UniProt reviewed canonical sequence.

>Q8IXL7|MSRB3
     1  MSPRRTLPRP LSLCLSLCLC LCLAAALGSA QSGSCRDKKN CKVVFSQQEL RKRLTPLQYH
    61  VTQEKGTESA FEGEYTHHKD PGIYKCVVCG TPLFKSETKF DSGSGWPSFH DVINSEAITF
   121  TDDFSYGMHR VETSCSQCGA HLGHIFDDGP RPTGKRYCIN SAALSFTPAD SSGTAEGGSG
   181  VASPAQADKA EL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MSRB3 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): 0.41
Highest tissue expression: 169 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 169 nTPM
smooth muscle: 116 nTPM
colon: 101 nTPM
skeletal muscle: 97 nTPM
seminal vesicle: 97 nTPM
heart muscle: 85 nTPM

Single-cell type

hematopoietic stem cells: 826 nCPM
vascular smooth muscle cells: 616 nCPM
smooth muscle cells: 524 nCPM
myonuclei: 517 nCPM
salivary myoepithelial cells: 449 nCPM
neutrophil progenitors: 392 nCPM

Immune cell

eosinophil: 42 nTPM
basophil: 15 nTPM
plasmacytoid DC: 11 nTPM
NK-cell: 8.2 nTPM
neutrophil: 6.8 nTPM
total PBMC: 1.4 nTPM

Brain region

choroid plexus: 33 nTPM
hypothalamus: 33 nTPM
thalamus: 33 nTPM
medulla oblongata: 27 nTPM
midbrain: 26 nTPM
spinal cord: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MSRB3.

Disease | AllUniProt

Conditions MSRB3 is implicated in, by any mechanism.

Deafness, autosomal recessive, 74 (DFNB74) MIM:613718

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 127 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 74
Hearing loss, autosomal recessive
Rare genetic deafness
Hearing loss

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): 1.16
gnomAD pLI: 0
gnomAD missense Z: 0.31
DepMap mean gene effect: 0.02
DepMap dependency class: none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MSRB3 as an antibody target. Whether an autoantibody or antibody against MSRB3 could matter depends on whether native MSRB3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MSRB3 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 MSRB3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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