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

Gene ID: 79258, updated on 1-Jun-2020

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

Genomic context

See MMEL1 in Genome Data Viewer
Location:
1p36.32
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2590639..2633042, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2522078..2564499, 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 MMEL1 antisense RNA 1 Neighboring gene tetratricopeptide repeat domain 34 Neighboring gene uncharacterized LOC105378603 Neighboring gene uncharacterized LOC105378602

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

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • MGC119454, MGC119455, MGC119456

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
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
XP_011540424.1
XP_016857799.1
XP_016857800.1
XP_016857801.1
XP_016857802.1
XP_016857803.1
XP_016857804.1

NCBI Reference Sequences (RefSeq)

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.

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..2633042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002311.1XP_016857800.1  membrane metallo-endopeptidase-like 1 isoform X2

  2. XM_017002314.1XP_016857803.1  membrane metallo-endopeptidase-like 1 isoform X5

  3. XM_017002313.1XP_016857802.1  membrane metallo-endopeptidase-like 1 isoform X4

  4. XM_017002312.1XP_016857801.1  membrane metallo-endopeptidase-like 1 isoform X3

  5. XM_017002310.1XP_016857799.1  membrane metallo-endopeptidase-like 1 isoform X1

    UniProtKB/Swiss-Prot
    Q495T6
    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]
  6. XM_017002315.1XP_016857804.1  membrane metallo-endopeptidase-like 1 isoform X6

  7. XM_011542122.2XP_011540424.1  membrane metallo-endopeptidase-like 1 isoform X7

    See identical proteins and their annotated locations for XP_011540424.1

    Conserved Domains (1) summary
    cd08662
    Location:1520
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

RNA

  1. XR_001737402.1 RNA Sequence

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)
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