Endometriosis Knowledgebase

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Gene id

4311

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MME Gene UCSC Ensembl

Aliases

CALLA, CD10, CMT2T, NEP, SCA43, SFE

Gene name

membrane metalloendopeptidase

Alternate names

neprilysin, atriopeptidase, common acute lymphocytic leukemia antigen, membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10), membrane metallo-endopeptidase variant 1, membrane metallo-endopeptidase variant 2, neprilysin-390, neprily,

Gene location

3q25.2 (155024123: 155183728) Exons: 29 NC_000003.12

Gene summary(Entrez)

This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This 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. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. 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. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]

OMIM

120520

Protein Summary

Protein general information

P08473

Name: Neprilysin (EC 3.4.24.11) (Atriopeptidase) (Common acute lymphocytic leukemia antigen) (CALLA) (Enkephalinase) (Neutral endopeptidase 24.11) (NEP) (Neutral endopeptidase) (Skin fibroblast elastase) (SFE) (CD antigen CD10)

Length: 750 Mass: 85,514

Sequence

MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDA
TTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLKDVLQEPKTEDIVAVQKAKALYRSCINESAID
SRGGEPLLKLLPDIYGWPVATENWEQKYGASWTAEKAIAQLNSKYGKKVLINLFVGTDDKNSVNHVIHIDQPRLG
LPSRDYYECTGIYKEACTAYVDFMISVARLIRQEERLPIDENQLALEMNKVMELEKEIANATAKPEDRNDPMLLY
NKMTLAQIQNNFSLEINGKPFSWLNFTNEIMSTVNISITNEEDVVVYAPEYLTKLKPILTKYSARDLQNLMSWRF
IMDLVSSLSRTYKESRNAFRKALYGTTSETATWRRCANYVNGNMENAVGRLYVEAAFAGESKHVVEDLIAQIREV
FIQTLDDLTWMDAETKKRAEEKALAIKERIGYPDDIVSNDNKLNNEYLELNYKEDEYFENIIQNLKFSQSKQLKK
LREKVDKDEWISGAAVVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKD
GDLVDWWTQQSASNFKEQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGLGQAYRAYQNYIKKNGEEKLL
PGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRIIGTLQNSAEFSEAFHCRKNSYMNPEKKCRVW

Structural information

Motifs	Stop-transfer sequence.(16-23)
Interpro:	IPR024079 IPR029727 IPR000718 IPR018497 IPR008753
Prosite:	PS00142
Pfam:	PF01431 PF05649
CDD:	cd08662
PDB:	1DL9 1DMT 1QVD 1R1H 1R1I 1R1J 1Y8J 2QPJ 2YB9 4CTH 5JMY
PDBsum:	1DL9 1DMT 1QVD 1R1H 1R1I 1R1J 1Y8J 2QPJ 2YB9 4CTH 5JMY
STRING:	ENSP00000353679;

Other Databases

GeneCards: MME; Malacards: MME

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001822	kidney development	IEP	biological_process
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004175	endopeptidase activity	IMP	molecular_function
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0005903	brush border	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006518	peptide metabolic process	ISS	biological_process
GO:0008021	synaptic vesicle	ISS	cellular_component
GO:0008237	metallopeptidase activity	EXP	molecular_function
GO:0008238	exopeptidase activity	IDA	molecular_function
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0019233	sensory perception of pai n	ISS	biological_process
GO:0030424	axon	ISS	cellular_component
GO:0030425	dendrite	ISS	cellular_component
GO:0042277	peptide binding	ISS	molecular_function
GO:0044306	neuron projection terminu s	ISS	cellular_component
GO:0045202	synapse	ISS	cellular_component
GO:0046449	creatinine metabolic proc ess	IMP	biological_process
GO:0050435	beta-amyloid metabolic pr ocess	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071345	cellular response to cyto kine stimulus	IDA	biological_process
GO:0071492	cellular response to UV-A	IDA	biological_process
GO:0071493	cellular response to UV-B	IDA	biological_process
GO:0090399	replicative senescence	IEP	biological_process
GO:0001822	kidney development	IEP	biological_process
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004175	endopeptidase activity	IMP	molecular_function
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IEA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0005903	brush border	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006518	peptide metabolic process	IEA	biological_process
GO:0006518	peptide metabolic process	ISS	biological_process
GO:0008021	synaptic vesicle	IEA	cellular_component
GO:0008021	synaptic vesicle	ISS	cellular_component
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008237	metallopeptidase activity	IEA	molecular_function
GO:0008237	metallopeptidase activity	IEA	molecular_function
GO:0008237	metallopeptidase activity	EXP	molecular_function
GO:0008238	exopeptidase activity	IDA	molecular_function
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0019233	sensory perception of pai n	IEA	biological_process
GO:0019233	sensory perception of pai n	ISS	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0030424	axon	ISS	cellular_component
GO:0030425	dendrite	IEA	cellular_component
GO:0030425	dendrite	ISS	cellular_component
GO:0042277	peptide binding	IEA	molecular_function
GO:0042277	peptide binding	ISS	molecular_function
GO:0044306	neuron projection terminu s	IEA	cellular_component
GO:0044306	neuron projection terminu s	ISS	cellular_component
GO:0045202	synapse	IEA	cellular_component
GO:0045202	synapse	ISS	cellular_component
GO:0046449	creatinine metabolic proc ess	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050435	beta-amyloid metabolic pr ocess	IEA	biological_process
GO:0050435	beta-amyloid metabolic pr ocess	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071345	cellular response to cyto kine stimulus	IDA	biological_process
GO:0071492	cellular response to UV-A	IDA	biological_process
GO:0071493	cellular response to UV-B	IDA	biological_process
GO:0090399	replicative senescence	IEP	biological_process
GO:0001822	kidney development	IEP	biological_process
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004175	endopeptidase activity	IMP	molecular_function
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0005903	brush border	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006518	peptide metabolic process	ISS	biological_process
GO:0008021	synaptic vesicle	ISS	cellular_component
GO:0008237	metallopeptidase activity	EXP	molecular_function
GO:0008238	exopeptidase activity	IDA	molecular_function
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0019233	sensory perception of pai n	ISS	biological_process
GO:0030424	axon	ISS	cellular_component
GO:0030425	dendrite	ISS	cellular_component
GO:0042277	peptide binding	ISS	molecular_function
GO:0044306	neuron projection terminu s	ISS	cellular_component
GO:0045202	synapse	ISS	cellular_component
GO:0046449	creatinine metabolic proc ess	IMP	biological_process
GO:0050435	beta-amyloid metabolic pr ocess	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071345	cellular response to cyto kine stimulus	IDA	biological_process
GO:0071492	cellular response to UV-A	IDA	biological_process
GO:0071493	cellular response to UV-B	IDA	biological_process
GO:0090399	replicative senescence	IEP	biological_process

KEGG pathways

hsa04640  Hematopoietic cell lineage
hsa05010  Alzheimer's disease
hsa04974  Protein digestion and absorption
hsa04614  Renin-angiotensin system

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 14739539
Anxiety disorder	PMID: 10994648
Attention-deficit hyperactivity disorder (ADHD)	PMID: 11140838
Cardiovascular disease	PMID: 17903304
Cerebral amyloid angiopathy	PMID: 12754344
Charcot-Marie-Tooth disease	KEGG: H00264, OMIM: 120520
Endometrial cancer	PMID: 24623538
Endometriosis	PMID: 20536670
Ovarian endometriosis	PMID: 16500320
Ovarian endometriosis	PMID: 16500320
Peritoneal endometriosis	PMID: 16500320
Endometriosis	INFBASE20536670
Peritoneal, ovarian, and deeply infiltrating endometriosis	INFBASE16500320
Spinocerebellar ataxia	OMIM: 120520

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
20536670	Endometrio sis		CD10	Show abstract
12873175	Endometrio sis	32 (20 cases di agnosed as "sus picious for," " suggestive of," or "compatible with" endometr iosis, 12 cases of lesions tha t may be confus ed with endomet riosis (3 endos alpingioses, 3 mesothelial hyp erplasias, 3 ov arian follicula r cysts, and 3 hemorrhagic cor	CD10	Show abstract
16500320	Endometrio sis (Perit oneal and ovarian)	71 (18 peritone al endometrioti c lesions, 29 o varian endometr iotic lesions, 14 deeply infil trating endomet riotic lesions, 5 women with e ndometriosis, 5 women without endometriosis)	CD10 IGFBP-1 PR	Show abstract