MB

Protein identityUniProt · HPA

UniProt accession

P02144

Gene

MB

Ensembl

ENSG00000198125

Chromosome

22

Canonical length

154 aa

Protein class

Candidate cardiovascular disease genes, FDA approved drug targets, Plasma proteins, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily responsible for the storage and facilitated transfer of oxygen from the cell membrane to the mitochondria. This protein also plays a role in regulating physiological levels of nitric oxide. Multiple transcript variants encoding distinct isoforms exist for this gene. [provided by RefSeq, May 2020]

Canonical amino-acid sequenceUniProt

154 residues, UniProt reviewed canonical sequence.

>P02144|MB
     1  MGLSDGEWQL VLNVWGKVEA DIPGHGQEVL IRLFKGHPET LEKFDKFKHL KSEDEMKASE
    61  DLKKHGATVL TALGGILKKK GHHEAEIKPL AQSHATKHKI PVKYLEFISE CIIQVLQSKH
   121  PGDFGADAQG AMNKALELFR KDMASNYKEL GFQG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MB 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)

0.27

Highest tissue expression

38,157 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MB.

Disease | AllUniProt

Conditions MB is implicated in, by any mechanism.

• Myopathy, sarcoplasmic body (MYOSB) MIM:620286

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 25 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myopathy, sarcoplasmic body
• Colorectal carcinoma

ReferencesPubMed · IEDB

Publications for MB from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

1.29

gnomAD pLI

0.03

gnomAD missense Z

0.51

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brown fat cell differentiation
• enucleate erythrocyte differentiation
• heart development
• oxygen transport
• removal of superoxide radicals
• response to hypoxia
• skeletal muscle contraction

Molecular functions

• heme binding
• metal ion binding
• nitrite reductase activity
• oxygen binding
• oxygen carrier activity
• peroxidase activity

Cellular components

• cytosol
• extracellular exosome
• sarcoplasm

Protein domainsUniProt · Pfam · InterPro

• Globin
• Globin-like superfamily
• Globin
• Myoglobin

KeywordsUniProt

• Cytoplasm
• Heme
• Iron
• Metal-binding
• Muscle protein
• Oxidoreductase
• Oxygen transport
• Phosphoprotein
• Transport

InteractionsUniProt · HPA

Protein binding partners of MB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LRP2