Seroatlas · Human Serome Atlas

MBNL3

Muscleblind-like protein 3

Also known as: CHCR, FLJ11316, MBLX39, MBNL3_HUMAN, MBXL

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

Protein identityUniProt · HPA

UniProt accession: Q9NUK0
Gene: MBNL3
Ensembl: ENSG00000076770
Chromosome: X
Canonical length: 354 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

354 residues, UniProt reviewed canonical sequence.

>Q9NUK0|MBNL3
     1  MTAVNVALIR DTKWLTLEVC REFQRGTCSR ADADCKFAHP PRVCHVENGR VVACFDSLKG
    61  RCTRENCKYL HPPPHLKTQL EINGRNNLIQ QKTAAAMFAQ QMQLMLQNAQ MSSLGSFPMT
   121  PSIPANPPMA FNPYIPHPGM GLVPAELVPN TPVLIPGNPP LAMPGAVGPK LMRSDKLEVC
   181  REFQRGNCTR GENDCRYAHP TDASMIEASD NTVTICMDYI KGRCSREKCK YFHPPAHLQA
   241  RLKAAHHQMN HSAASAMALQ PGTLQLIPKR SALEKPNGAT PVFNPTVFHC QQALTNLQLP
   301  QPAFIPAGPI LCMAPASNIV PMMHGATPTT VSAATTPATS VPFAAPTTGN QLKF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBNL3 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): 0.55
Highest tissue expression: 154 nTPM

Expression across tissuesHPA

Tissue

placenta: 154 nTPM
liver: 55 nTPM
testis: 39 nTPM
epididymis: 27 nTPM
thymus: 12 nTPM
tonsil: 12 nTPM

Single-cell type

cytotrophoblasts: 473 nCPM
syncytiotrophoblasts: 448 nCPM
migrating cytotrophoblasts: 238 nCPM
sertoli cells: 202 nCPM
hepatocytes: 147 nCPM
cardiomyocytes: 140 nCPM

Immune cell

naive B-cell: 23 nTPM
memory B-cell: 19 nTPM
non-classical monocyte: 18 nTPM
plasmacytoid DC: 16 nTPM
gdT-cell: 16 nTPM
NK-cell: 16 nTPM

Brain region

hypothalamus: 12 nTPM
white matter: 9.2 nTPM
medulla oblongata: 9 nTPM
midbrain: 8.2 nTPM
pons: 6.9 nTPM
choroid plexus: 6.8 nTPM

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): 0.51
gnomAD pLI: 0.69
gnomAD missense Z: 1.39
DepMap mean gene effect: 0.14
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 MBNL3 as an antibody target. Whether an autoantibody or antibody against MBNL3 could matter depends on whether native MBNL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBNL3 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 MBNL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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