Seroatlas · Human Serome Atlas

MSL3

MSL complex subunit 3

Also known as: MS3L1_HUMAN, MSL3L1

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

Protein identityUniProt · HPA

UniProt accession: Q8N5Y2
Gene: MSL3
Ensembl: ENSG00000005302
Chromosome: X
Canonical length: 521 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

521 residues, UniProt reviewed canonical sequence.

>Q8N5Y2|MSL3
     1  MSASEGMKFK FHSGEKVLCF EPDPTKARVL YDAKIVDVIV GKDEKGRKIP EYLIHFNGWN
    61  RSWDRWAAED HVLRDTDENR RLQRKLARKA VARLRSTGRK KKRCRLPGVD SVLKGLPTEE
   121  KDENDENSLS SSSDCSENKD EEISEESDIE EKTEVKEEPE LQTRREMEER TITIEIPEVL
   181  KKQLEDDCYY INRRKRLVKL PCQTNIITIL ESYVKHFAIN AAFSANERPR HHHVMPHANM
   241  NVHYIPAEKN VDLCKEMVDG LRITFDYTLP LVLLYPYEQA QYKKVTSSKF FLPIKESATS
   301  TNRSQEELSP SPPLLNPSTP QSTESQPTTG EPATPKRRKA EPEALQSLRR STRHSANCDR
   361  LSESSASPQP KRRQQDTSAS MPKLFLHLEK KTPVHSRSSS PIPLTPSKEG SAVFAGFEGR
   421  RTNEINEVLS WKLVPDNYPP GDQPPPPSYI YGAQHLLRLF VKLPEILGKM SFSEKNLKAL
   481  LKHFDLFLRF LAEYHDDFFP ESAYVAACEA HYSTKNPRAI Y

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MSL3 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): 0.46
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

thymus: 36 nTPM
skeletal muscle: 34 nTPM
spleen: 31 nTPM
lymph node: 29 nTPM
tonsil: 25 nTPM
appendix: 22 nTPM

Single-cell type

neutrophils: 359 nCPM
oocytes: 193 nCPM
neutrophil progenitors: 100 nCPM
esophageal apical cells: 78 nCPM
monocytes: 76 nCPM
early spermatids: 66 nCPM

Immune cell

neutrophil: 67 nTPM
total PBMC: 62 nTPM
non-classical monocyte: 61 nTPM
T-reg: 61 nTPM
naive CD4 T-cell: 58 nTPM
classical monocyte: 54 nTPM

Brain region

hypothalamus: 19 nTPM
thalamus: 16 nTPM
cerebral cortex: 16 nTPM
midbrain: 15 nTPM
hippocampal formation: 15 nTPM
basal ganglia: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MSL3.

Disease | AllUniProt

Conditions MSL3 is implicated in, by any mechanism.

Basilicata-Akhtar syndrome (MRXSBA) MIM:301032

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 244 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.18
gnomAD pLI: 1
gnomAD missense Z: 1.93
DepMap mean gene effect: 0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 MSL3 as an antibody target. Whether an autoantibody or antibody against MSL3 could matter depends on whether native MSL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MSL3 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 MSL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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