Seroatlas · Human Serome Atlas

MBNL1

Muscleblind-like protein 1

Also known as: EXP, EXP35, EXP40, EXP42, KIAA0428, MBNL, MBNL1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NR56
Gene
MBNL1
Ensembl
ENSG00000152601
Chromosome
3
Canonical length
388 aa
Protein class
Disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]

Canonical amino-acid sequenceUniProt

388 residues, UniProt reviewed canonical sequence.

>Q9NR56|MBNL1
     1  MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV IACFDSLKGR
    61  CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM QLANAMMPGA PLQPVPMFSV
   121  APSLATNASA AAFNPYLGPV SPSLVPAEIL PTAPMLVTGN PGVPVPAAAA AAAQKLMRTD
   181  RLEVCREYQR GNCNRGENDC RFAHPADSTM IDTNDNTVTV CMDYIKGRCS REKCKYFHPP
   241  AHLQAKIKAA QYQVNQAAAA QAAATAAAMT QSAVKSLKRP LEATFDLGIP QAVLPPLPKR
   301  PALEKTNGAT AVFNTGIFQY QQALANMQLQ QHTAFLPPVP MVHGATPATV SAATTSATSV
   361  PFAATATANQ IPIISAEHLT SHKYVTQM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBNL1 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
177 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 177 nTPM
  • blood vessel: 142 nTPM
  • lymph node: 127 nTPM
  • tongue: 123 nTPM
  • tonsil: 123 nTPM
  • smooth muscle: 107 nTPM

Single-cell type

  • neutrophils: 5,223 nCPM
  • myonuclei: 4,765 nCPM
  • neutrophil progenitors: 3,513 nCPM
  • monocyte progenitors: 3,082 nCPM
  • hematopoietic stem cells: 2,628 nCPM
  • thymic myoid cells: 2,413 nCPM

Immune cell

  • total PBMC: 101 nTPM
  • basophil: 91 nTPM
  • eosinophil: 86 nTPM
  • MAIT T-cell: 80 nTPM
  • neutrophil: 77 nTPM
  • NK-cell: 76 nTPM

Brain region

  • white matter: 107 nTPM
  • pons: 99 nTPM
  • medulla oblongata: 97 nTPM
  • thalamus: 96 nTPM
  • spinal cord: 96 nTPM
  • basal ganglia: 93 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MBNL1.

Disease | AllUniProt

Conditions MBNL1 is implicated in, by any mechanism.

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)
0.43
gnomAD pLI
0.71
gnomAD missense Z
2.7
DepMap mean gene effect
-0.24
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 MBNL1 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 MBNL1 as an antibody target. Whether an autoantibody or antibody against MBNL1 could matter depends on whether native MBNL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBNL1 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 MBNL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MBNL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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