MME membrane metalloendopeptidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMEprovided by HGNC
Official Full Name: membrane metalloendopeptidaseprovided by HGNC
Primary source: HGNC:HGNC:7154
See related: Ensembl:ENSG00000196549 MIM:120520; AllianceGenome:HGNC:7154
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEP; SFE; CD10; CALLA; CMT2T; SCA43
Summary: 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]
Expression: Biased expression in duodenum (RPKM 88.5), kidney (RPKM 83.7) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q25.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (155024202..155183729)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (157798155..157957709)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (154741991..154901518)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.
Title: A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Title: A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
"Evaluation of neprilysin activity in Adipose-Derived stem cells from Alzheimer's disease patients".
Title: "Evaluation of neprilysin activity in Adipose-Derived stem cells from Alzheimer's disease patients".
miRNA-211-5p inhibition enhances the protective effect of hucMSC-derived exosome in Abeta1-40 -induced SH-SY5Y cells by increasing NEP expression.
Title: miRNA-211-5p inhibition enhances the protective effect of hucMSC-derived exosome in Aβ(1-40) -induced SH-SY5Y cells by increasing NEP expression.
Induction of ICAM1 in Brain Vessels is Implicated in an Early AD Pathogenesis by Modulating Neprilysin.
Title: Induction of ICAM1 in Brain Vessels is Implicated in an Early AD Pathogenesis by Modulating Neprilysin.
Membrane metalloendopeptidase (MME) is positively correlated with systemic lupus erythematosus and may inhibit the occurrence of breast cancer.
Title: Membrane metalloendopeptidase (MME) is positively correlated with systemic lupus erythematosus and may inhibit the occurrence of breast cancer.
Association between the NEP rs701109 polymorphism and the clinical efficacy and safety of sacubitril/valsartan in Chinese patients with heart failure.
Title: Association between the NEP rs701109 polymorphism and the clinical efficacy and safety of sacubitril/valsartan in Chinese patients with heart failure.
Dengue Virus Increases the Expression of TREM-1 and CD10 on Human Neutrophils.
Title: Dengue Virus Increases the Expression of TREM-1 and CD10 on Human Neutrophils.
Predictive role of neostromal CD10 expression in breast cancer patients treated with neoadjuvant chemotherapy.
Title: Predictive role of neostromal CD10 expression in breast cancer patients treated with neoadjuvant chemotherapy.
Expression Profile of CD10, BCL-2, p63, and EMA in the Normal Skin and Basal Cell Carcinomas: An Immunohistochemical Reappraisal.
Title: Expression Profile of CD10, BCL-2, p63, and EMA in the Normal Skin and Basal Cell Carcinomas: An Immunohistochemical Reappraisal.

Submit: New GeneRIF Correction See all GeneRIFs (293)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease axonal type 2T MedGen: C4015635 OMIM: 617017 GeneReviews: Not available	Compare labs
Charcot-Marie-Tooth disease type 2 MedGen: C0270914 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Spinocerebellar ataxia 43 MedGen: C4310763 OMIM: 617018 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-treated vaginal epithelial cells show upregulation of membrane metallo-endopeptidase (MME, CD10) expression as compared to untreated control	PubMed
Tat	tat	HIV-1 Tat, which is found in the brains of patients with HIV-1 infection, inhibits the amyloid beta (Abeta)-degrading enzyme, neprilysin (NEP)	PubMed
	tat	CD10/Nep inhibits HIV-1 Tat dimerization in Jurkat T-cells	PubMed
Vif	vif	HIV-1 Vif upregulates the expression of membrane metallo-endopeptidase (MME) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MME_1383 (e-PCR)
- UniSTS:280848

PMC156606P1 (e-PCR)
- UniSTS:271408

GDB:181217 (e-PCR)
- UniSTS:155185

SHGC-77474 (e-PCR)
- UniSTS:47415

SHGC-173666 (e-PCR)
- UniSTS:185411

SHGC-146123 (e-PCR)
- UniSTS:175022

SHGC-110011 (e-PCR)
- UniSTS:170173

SHGC-35301 (e-PCR)
- UniSTS:39872

G62078 (e-PCR)
- UniSTS:139207

RH1499 (e-PCR)
- UniSTS:41718

SHGC-81275 (e-PCR)
- UniSTS:102650

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cardiolipin binding	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables exopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables oligopeptidase activity	IEA Inferred from Electronic Annotation more info
enables peptide binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid-beta clearance	IBA Inferred from Biological aspect of Ancestor more info
involved_in amyloid-beta clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in amyloid-beta clearance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amyloid-beta clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in amyloid-beta clearance by cellular catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in amyloid-beta clearance by cellular catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amyloid-beta clearance by cellular catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in amyloid-beta metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in bradykinin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to UV-B	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cytokine stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in creatinine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hormone catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in kidney development	IEP Inferred from Expression Pattern more info	PubMed
involved_in learning or memory	IGI Inferred from Genetic Interaction more info	PubMed
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in neuropeptide processing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peptide metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replicative senescence	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of pain	ISS Inferred from Sequence or Structural Similarity more info
involved_in substance P catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IGI Inferred from Genetic Interaction more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IGI Inferred from Genetic Interaction more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IGI Inferred from Genetic Interaction more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neprilysin

Names: atriopeptidase; common acute lymphocytic leukemia antigen; membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10); neprilysin-390; neprilysin-411; neutral endopeptidase 24.11; skin fibroblast elastase

NP_000893.2

EC 3.4.24.11

NP_001341571.1

EC 3.4.24.11

NP_001341572.1

EC 3.4.24.11

NP_001341573.1

EC 3.4.24.11

NP_009218.2

EC 3.4.24.11

NP_009219.2

EC 3.4.24.11

NP_009220.2

EC 3.4.24.11

XP_006713710.1

EC 3.4.24.11

XP_011511158.1

EC 3.4.24.11

XP_011511159.1

EC 3.4.24.11

XP_047304113.1

EC 3.4.24.11

XP_054202544.1

EC 3.4.24.11

XP_054202545.1

EC 3.4.24.11

XP_054202546.1

EC 3.4.24.11

XP_054202547.1

EC 3.4.24.11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051105.1 RefSeqGene

Range

61196..164581

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000902.5 → NP_000893.2 neprilysin isoform a

See identical proteins and their annotated locations for NP_000893.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains an alternate 5' UTR exon compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC106724, BM151602, X07166

Consensus CDS

CCDS3172.1

UniProtKB/Swiss-Prot

A8K6U6, D3DNJ9, P08473, Q3MIX4

UniProtKB/TrEMBL

B7ZKY6

Related

ENSP00000418525.1, ENST00000460393.6

Conserved Domains (1) summary

cd08662
Location:79 → 748

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_001354642.2 → NP_001341571.1 neprilysin isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC106724, AK291761

Consensus CDS

CCDS3172.1

UniProtKB/Swiss-Prot

A8K6U6, D3DNJ9, P08473, Q3MIX4

UniProtKB/TrEMBL

B7ZKY6

Related

ENSP00000420389.1, ENST00000492661.5

Conserved Domains (1) summary

cd08662
Location:79 → 748

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_001354643.1 → NP_001341572.1 neprilysin isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC106724, AC117384, Y00811

Consensus CDS

CCDS3172.1

UniProtKB/Swiss-Prot

A8K6U6, D3DNJ9, P08473, Q3MIX4

UniProtKB/TrEMBL

B7ZKY6

Related

ENSP00000417079.1, ENST00000493237.5

Conserved Domains (1) summary

cd08662
Location:79 → 748

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_001354644.1 → NP_001341573.1 neprilysin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 2b. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AC117384, BC106070

Consensus CDS

CCDS87157.1

UniProtKB/TrEMBL

Q3KQS6

Related

ENSP00000372450.3, ENST00000382989.7
NM_007287.4 → NP_009218.2 neprilysin isoform a

See identical proteins and their annotated locations for NP_009218.2

Status: REVIEWED

Description

Transcript Variant: This variant (1bis) contains an alternate 5' UTR exon compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC106724, AC117384, DB142029, X07166

Consensus CDS

CCDS3172.1

UniProtKB/Swiss-Prot

A8K6U6, D3DNJ9, P08473, Q3MIX4

UniProtKB/TrEMBL

B7ZKY6

Related

ENSP00000502021.2, ENST00000675418.2

Conserved Domains (1) summary

cd08662
Location:79 → 748

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_007288.3 → NP_009219.2 neprilysin isoform a

See identical proteins and their annotated locations for NP_009219.2

Status: REVIEWED

Description

Transcript Variant: This variant (2a) contains an alternate 5' UTR exon, compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC106724, AC117384

Consensus CDS

CCDS3172.1

UniProtKB/Swiss-Prot

A8K6U6, D3DNJ9, P08473, Q3MIX4

UniProtKB/TrEMBL

B7ZKY6

Related

ENSP00000419653.1, ENST00000462745.5

Conserved Domains (1) summary

cd08662
Location:79 → 748

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_007289.4 → NP_009220.2 neprilysin isoform a

See identical proteins and their annotated locations for NP_009220.2

Status: REVIEWED

Description

Transcript Variant: This variant (2b) is the longest transcript and includes alternate exon 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC106724, AC117384

Consensus CDS

CCDS3172.1

UniProtKB/Swiss-Prot

A8K6U6, D3DNJ9, P08473, Q3MIX4

UniProtKB/TrEMBL

B7ZKY6

Related

ENSP00000353679.2, ENST00000360490.7

Conserved Domains (1) summary

cd08662
Location:79 → 748

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I