Format

Send to:

Choose Destination

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

Gene ID: 79258, updated on 25-Nov-2021

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MMEL1 in Genome Data Viewer
Location:
1p36.32
Exon count:
24
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2590639..2633016, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2522078..2564455, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNFRSF14 antisense RNA 1 Neighboring gene uncharacterized LOC100996583 Neighboring gene TNF receptor superfamily member 14 Neighboring gene peroxiredoxin like 2B Neighboring gene Sharpr-MPRA regulatory region 11692 Neighboring gene MMEL1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 15700 Neighboring gene tetratricopeptide repeat domain 34

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
GeneReviews: Not available
Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
GeneReviews: Not available
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119454, MGC119455, MGC119456

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_033467.4NP_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
    Q495T6
    UniProtKB/TrEMBL
    B3KS82
    Related
    ENSP00000367668.3, ENST00000378412.8
    Conserved Domains (2) summary
    cd08662
    Location:111777
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:102779
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    2590639..2633016 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    141829..184203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center