MME

Protein identityUniProt · HPA

UniProt accession

P08473

Gene

MME

Ensembl

ENSG00000196549

Chromosome

3

Canonical length

750 aa

Protein class

Cancer-related genes, Candidate cardiovascular disease genes, CD markers, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

750 residues, UniProt reviewed canonical sequence.

>P08473|MME
     1  MGKSESQMDI TDINTPKPKK KQRWTPLEIS LSVLVLLLTI IAVTMIALYA TYDDGICKSS
    61  DCIKSAARLI QNMDATTEPC TDFFKYACGG WLKRNVIPET SSRYGNFDIL RDELEVVLKD
   121  VLQEPKTEDI VAVQKAKALY RSCINESAID SRGGEPLLKL LPDIYGWPVA TENWEQKYGA
   181  SWTAEKAIAQ LNSKYGKKVL INLFVGTDDK NSVNHVIHID QPRLGLPSRD YYECTGIYKE
   241  ACTAYVDFMI SVARLIRQEE RLPIDENQLA LEMNKVMELE KEIANATAKP EDRNDPMLLY
   301  NKMTLAQIQN NFSLEINGKP FSWLNFTNEI MSTVNISITN EEDVVVYAPE YLTKLKPILT
   361  KYSARDLQNL MSWRFIMDLV SSLSRTYKES RNAFRKALYG TTSETATWRR CANYVNGNME
   421  NAVGRLYVEA AFAGESKHVV EDLIAQIREV FIQTLDDLTW MDAETKKRAE EKALAIKERI
   481  GYPDDIVSND NKLNNEYLEL NYKEDEYFEN IIQNLKFSQS KQLKKLREKV DKDEWISGAA
   541  VVNAFYSSGR NQIVFPAGIL QPPFFSAQQS NSLNYGGIGM VIGHEITHGF DDNGRNFNKD
   601  GDLVDWWTQQ SASNFKEQSQ CMVYQYGNFS WDLAGGQHLN GINTLGENIA DNGGLGQAYR
   661  AYQNYIKKNG EEKLLPGLDL NHKQLFFLNF AQVWCGTYRP EYAVNSIKTD VHSPGNFRII
   721  GTLQNSAEFS EAFHCRKNSY MNPEKKCRVW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MME 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

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

314 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MME.

Disease | AllUniProt

Conditions MME is implicated in, by any mechanism.

• Charcot-Marie-Tooth disease, axonal, type 2T (CMT2T) MIM:617017
• Spinocerebellar ataxia 43 (SCA43) MIM:617018

Disease | GeneticClinVar

104 pathogenic / likely-pathogenic of 794 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Charcot-Marie-Tooth disease axonal type 2T
• Spinocerebellar ataxia 43
• MME-related disorder
• Peripheral neuropathy
• Charcot-Marie-Tooth disease type 2T

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)

0.92

gnomAD pLI

0

gnomAD missense Z

0.36

DepMap mean gene effect

0.01

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

• amygdala development
• amyloid-beta clearance
• amyloid-beta clearance by cellular catabolic process
• amyloid-beta metabolic process
• angiotensin maturation
• bradykinin catabolic process
• cellular response to cytokine stimulus
• cellular response to UV-A
• cellular response to UV-B
• creatinine metabolic process
• hippocampus development
• hormone catabolic process
• kidney development
• learning or memory
• lung development
• memory
• multicellular organism growth
• peptide metabolic process
• placenta development
• positive regulation of long-term synaptic potentiation
• positive regulation of neurogenesis
• protein catabolic process
• protein processing
• proteolysis
• replicative senescence
• response to estrogen
• sensory perception of pain
• substance P catabolic process
• neuropeptide processing

Molecular functions

• cardiolipin binding
• endopeptidase activity
• exopeptidase activity
• metallocarboxypeptidase activity
• metalloendopeptidase activity
• oligopeptidase activity
• peptide binding
• phosphatidylserine binding
• protein homodimerization activity
• zinc ion binding

Cellular components

• axon
• brush border
• cell surface
• centrosome
• ciliary basal body
• cytoplasm
• cytoplasmic vesicle
• cytosol
• dendrite
• early endosome
• extracellular exosome
• focal adhesion
• membrane
• membrane raft
• neuron projection terminus
• neuronal cell body
• nucleoplasm
• plasma membrane
• presynapse
• secretory granule membrane
• synapse
• synaptic vesicle
• trans-Golgi network

Protein domainsUniProt · Pfam · InterPro

• Peptidase M13
• Peptidase M13, N-terminal domain
• Peptidase M13, C-terminal domain
• Metallopeptidase, catalytic domain superfamily
• Peptidase M13, domain 2
• Peptidase family M13
• Peptidase family M13

KeywordsUniProt

• Cell membrane
• Charcot-Marie-Tooth disease
• Disulfide bond
• Glycoprotein
• Hydrolase
• Lipoprotein
• Membrane
• Metal-binding
• Metalloprotease
• Myristate
• Neurodegeneration
• Neuropathy
• Phosphoprotein
• Protease
• Signal-anchor
• Spinocerebellar ataxia
• Transmembrane
• Transmembrane helix
• Zinc

InteractionsUniProt · HPA

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

• HSPB1