MMEL1 membrane metalloendopeptidase like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMEL1provided by HGNC
Official Full Name: membrane metalloendopeptidase like 1provided by HGNC
Primary source: HGNC:HGNC:14668
See related: Ensembl:ENSG00000142606 MIM:618104; AllianceGenome:HGNC:14668
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: NL1; NL2; SEP; NEP2; MMEL2; NEPII
Summary: The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 6.2), small intestine (RPKM 3.4) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.32

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (2590639..2633016, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (2032284..2074662, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (2522078..2564455, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.
Title: Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.
the dynamic behavior of human NEP and NEP2 proteins was monitored by conducting molecular dynamics (MD) simulations.
Title: In silico based investigation of dynamic variations in neprilysin (NEP and NEP2) proteins for extracting the point of specificity.
MMEL1 518 Met/Thr polymorphism contributes to celiac disease risk among Saudi Arabians, both in single and also in synergistic cooperation with SH2B3 gene marker.
Title: Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.
Te results of this study suggested taht genetic variations in MMEL1, ECE1, ECE2, AGER, PLG, PLAT, NR1H3, MMP3, LRP1, TTR, NR1H2, and MMP9 genes do not play major role among the Finnish AD patient cohort.
Title: Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.
The NEP2 expression and activity are altered in MCI is significant as these changes may potentially serve as preclinical markers for AD and reduced NEP2 activity may be associated with the development of Alzheimer's disease.
Title: Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease.
This study identifies MMEL1 and CTLA4 as RA susceptibility genes, in Han Chinese popilation.
Title: Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.
A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 in multiple sclerosis susceptibility.
Title: A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Genetic variants in the prediction of rheumatoid arthritis.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at CD40 and other loci confer risk of rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S171 (e-PCR)
- UniSTS:147046

G20652 (e-PCR)
- UniSTS:51657

A006A26 (e-PCR)
- UniSTS:51658

SHGC-143023 (e-PCR)
- UniSTS:171766

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: membrane metallo-endopeptidase-like 1

Names: NEP2(m); membrane metallo-endopeptidase-like 2; neprilysin II; neprilysin-2; soluble secreted endopeptidase; zinc metallopeptidase

NP_258428.2

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.

mRNA and Protein(s)

NM_033467.4 → NP_258428.2 membrane metallo-endopeptidase-like 1

See identical proteins and their annotated locations for NP_258428.2

Status: REVIEWED

Source sequence(s)

AF336981, AK093058, AL139246, BC101027, DB089501

Consensus CDS

CCDS30569.2

UniProtKB/Swiss-Prot

B9DI79, Q495T6, Q495T7, Q495T8, Q5SZS6, Q96PH9

UniProtKB/TrEMBL

B3KS82

Related

ENSP00000367668.3, ENST00000378412.8

Conserved Domains (2) summary

cd08662
Location:111 → 777

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

COG3590
Location:102 → 779

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]