Seroatlas · Human Serome Atlas

MKRN3

E3 ubiquitin-protein ligase makorin-3

Also known as: D15S9, MGC88288, MKRN3_HUMAN, RNF63, ZFP127, ZNF127

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

Protein identityUniProt · HPA

UniProt accession: Q13064
Gene: MKRN3
Ensembl: ENSG00000179455
Chromosome: 15
Canonical length: 507 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

507 residues, UniProt reviewed canonical sequence.

>Q13064|MKRN3
     1  MEEPAAPSEA HEAAGAQAGA EAAREGVSGP DLPVCEPSGE SAAPDSALPH AARGWAPFPV
    61  APVPAHLRRG GLRPAPASGG GAWPSPLPSR SSGIWTKQII CRYYIHGQCK EGENCRYSHD
   121  LSGRKMATEG GVSPPGASAG GGPSTAAHIE PPTQEVAEAP PAASSLSLPV IGSAAERGFF
   181  EAERDNADRG AAGGAGVESW ADAIEFVPGQ PYRGRWVASA PEAPLQSSET ERKQMAVGSG
   241  LRFCYYASRG VCFRGESCMY LHGDICDMCG LQTLHPMDAA QREEHMRACI EAHEKDMELS
   301  FAVQRGMDKV CGICMEVVYE KANPNDRRFG ILSNCNHSFC IRCIRRWRSA RQFENRIVKS
   361  CPQCRVTSEL VIPSEFWVEE EEEKQKLIQQ YKEAMSNKAC RYFAEGRGNC PFGDTCFYKH
   421  EYPEGWGDEP PGPGGGSFSA YWHQLVEPVR MGEGNMLYKS IKKELVVLRL ASLLFKRFLS
   481  LRDELPFSED QWDLLHYELE EYFNLIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MKRN3 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: 8.2 nTPM

Expression across tissuesHPA

Tissue

retina: 8.2 nTPM
spinal cord: 6.1 nTPM
cerebral cortex: 4.6 nTPM
hippocampal formation: 4.3 nTPM
midbrain: 4 nTPM
esophagus: 3.7 nTPM

Single-cell type

oligodendrocytes: 196 nCPM
oligodendrocyte progenitor cells: 152 nCPM
astrocytes: 90 nCPM
bergmann glia: 72 nCPM
ependymal cells: 60 nCPM
choroid plexus epithelial cells: 33 nCPM

Immune cell

naive CD8 T-cell: 2.3 nTPM
basophil: 0.6 nTPM
gdT-cell: 0.6 nTPM
naive CD4 T-cell: 0.6 nTPM
memory CD8 T-cell: 0.5 nTPM
neutrophil: 0.4 nTPM

Brain region

white matter: 32 nTPM
basal ganglia: 19 nTPM
cerebral cortex: 18 nTPM
medulla oblongata: 18 nTPM
thalamus: 17 nTPM
midbrain: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MKRN3.

Disease | AllUniProt

Conditions MKRN3 is implicated in, by any mechanism.

Precocious puberty, central 2 (CPPB2) MIM:615346

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 123 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Precocious puberty, central, 2
MKRN3-related disorder
Prader-Willi 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): 0.63
gnomAD pLI: 0.28
gnomAD missense Z: -0.42
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

InteractionsUniProt · HPA

Protein binding partners of MKRN3 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 MKRN3 as an antibody target. Whether an autoantibody or antibody against MKRN3 could matter depends on whether native MKRN3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MKRN3 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 MKRN3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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