Seroatlas · Human Serome Atlas

NSMCE3

Non-structural maintenance of chromosomes element 3 homolog

Also known as: HCA4, MAGEG1, MAGEL3, NDNL2, NSE3, NSE3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96MG7
Gene: NSMCE3
Ensembl: ENSG00000185115
Chromosome: 15
Canonical length: 304 aa
Protein class: Disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

304 residues, UniProt reviewed canonical sequence.

>Q96MG7|NSMCE3
     1  MLQKPRNRGR SGGQAERDRD WSHSGNPGAS RAGEDARVLR DGFAEEAPST SRGPGGSQGS
    61  QGPSPQGARR AQAAPAVGPR SQKQLELKVS ELVQFLLIKD QKKIPIKRAD ILKHVIGDYK
   121  DIFPDLFKRA AERLQYVFGY KLVELEPKSN TYILINTLEP VEEDAEMRGD QGTPTTGLLM
   181  IVLGLIFMKG NTIKETEAWD FLRRLGVYPT KKHLIFGDPK KLITEDFVRQ RYLEYRRIPH
   241  TDPVDYEFQW GPRTNLETSK MKVLKFVAKV HNQDPKDWPA QYCEALADEE NRARPQPSGP
   301  APSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NSMCE3 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): 0.44
Highest tissue expression: 6.5 nTPM

Expression across tissuesHPA

Tissue

hypothalamus: 6.5 nTPM
testis: 5.9 nTPM
pituitary gland: 5.6 nTPM
hippocampal formation: 5.1 nTPM
cerebral cortex: 5 nTPM
spleen: 5 nTPM

Single-cell type

oligodendrocyte progenitor cells: 0.1 nCPM
oligodendrocytes: 0.1 nCPM
vascular smooth muscle cells: 0.1 nCPM
adipocytes: 0 nCPM
adrenal cortex cells: 0 nCPM
adrenal medulla cells: 0 nCPM

Immune cell

basophil: 0.1 nTPM
memory B-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
neutrophil: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

cerebral cortex: 3.2 nTPM
hippocampal formation: 3.2 nTPM
basal ganglia: 2.9 nTPM
cerebellum: 2.8 nTPM
amygdala: 2.7 nTPM
thalamus: 2.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NSMCE3.

Disease | AllUniProt

Conditions NSMCE3 is implicated in, by any mechanism.

Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) MIM:617241

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 189 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lung damage, immunodeficiency and chromosome breakage syndrome
Lung disease, immunodeficiency, and chromosome breakage 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): 1.04
gnomAD pLI: 0.06
DepMap mean gene effect: -0.81
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

protein dimerization activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NSMCE3 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 NSMCE3 as an antibody target. Whether an autoantibody or antibody against NSMCE3 could matter depends on whether native NSMCE3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NSMCE3 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 NSMCE3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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