MMEL1 - membrane metalloendopeptidase like 1 Gene

Also Known as NL1; NL2; SEP; NEP2; MMEL2; NEPII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79258

About MMEL1

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,590,639-2,633,016 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 220 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 6.2), small intestine (RPKM 3.4) and 21 other tissues.

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]

MMEL1 Products (1)

mRNA Protein Name
NM_033467.4 NP_258428.2 membrane metallo-endopeptidase-like 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables endopeptidase activity IDA
IDA: Inferred from direct assay
18539150 GOA
Biological Process GO Annotation Evidence References Source
involved in proteolysis IDA
IDA: Inferred from direct assay
18539150 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
18539150 GOA
located in membrane IDA
IDA: Inferred from direct assay
18539150 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MMEL1 Protein Structure

Peptidase_M13_N

Peptidase_M13_N: Peptidase family M13 (112 - 511)

Peptidase_M13

Peptidase_M13: Peptidase family M13 (572 - 778)

  • 0
  • 200
  • 400
  • 600
  • 779 a.a.
Protein Preferred Names Protein Names

membrane metallo-endopeptidase-like 1

  • NEP2(m)

Related Diseases

Diseases Alias
Primary Biliary Cholangitis

  • Primary Biliary Cirrhosis

  • Biliary Liver Cirrhosis

  • Chronic Nonsuppurative Destructive Cholangitis

  • Familial Primary Biliary Cirrhosis

  • Pbc

  • Hanot Syndrome

  • Cholestatic Cirrhosis

  • Biliary Cirrhosis Primary

  • Liver Cirrhosis, Biliary

  • Hanot'S Cirrhosis

  • Biliary Cirrhosis

  • Pericholangiolic Biliary Cirrhosis

  • Tannhauser-Magendantz Syndrome

  • Hanot-Rossle Syndrome

  • Hypertrophic Cirrhosis

  • Todd Cirrhosis

  • Hanot Cirrhosis

  • Charcot Cirrhosis

  • Mahon-Tannhauser Syndrome

  • Toxic Cirrhosis

  • Hypertrophic Biliary Cirrhosis

  • Monolobular Cirrhosis

  • Unilobar Cirrhosis

  • Xanthomatous Biliary Cirrhosis
Schwartz-Jampel Syndrome, Type 1

  • Schwartz-Jampel Syndrome

  • SJS1

  • Schwartz-Jampel-Aberfeld Syndrome

  • Sjs

  • Chondrodystrophic Myotonia

  • Schwartz-Jampel Syndrome Type 1

  • Sja Syndrome

  • Aberfeld Syndrome

  • Burton Skeletal Dysplasia

  • Burton Syndrome

  • Catel-Hempel Syndrome

  • Myotonic Chondrodystrophy

  • Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies

  • Osteochondromuscular Dystrophy

  • Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities

  • Schwartz-Jampel Syndrome 1

  • Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type

  • Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria

  • Schwartz Jampel Syndrome

  • Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities

  • Schwartz Jampel Aberfeld Syndrome

  • Congenital Blepharophimosis, Myopia, Myopathy Syndrome

  • Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Nemaline Myopathy 2

  • NEM2

  • Nemaline Myopathy 2, Autosomal Recessive

  • Nemaline Myopathy, Type 2

  • Neb-Related Nemaline Myopathy

  • Myopathy, Nemaline, Type 2
Celiac Disease 1

  • Celiac Disease

  • Coeliac Disease

  • Celiac Sprue

  • Celiac Disease, Susceptibility To

  • Gluten-Sensitive Enteropathy

  • Nontropical Sprue

  • Sprue

  • CELIAC1

  • Celiac Disease, Susceptibility To, 1

  • Celiac Sprue 1

  • Celiac Sprue, Susceptibility To, 1

  • Gluten-Sensitive Enteropathy 1

  • Gluten-Sensitive Enteropathy, Susceptibility To, 1

  • Idiopathic Steatorrhea

  • Cœliac Disease

  • Gluten Intolerance

  • Gluten-Induced Enteropathy

  • Gluten Enteropathy

  • Celiac Disease, Susceptibility To, Type 1

  • Childhood Celiac Disease

  • Coeliac Rickets

  • Gee Disease

  • Gee-Herter Disease

  • Heubner-Herter Disease

  • Idiopathic Steatorrhoea

  • Thaysen'S Disease

  • Herter Gee Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08514 MMEL1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MMEL1 VGNC VGNC:31515
Canis familiaris MMEL1 VGNC VGNC:43272
Mus musculus MMEL1 MGD MGI:1351603
Felis catus MMEL1 VGNC VGNC:63535
Macaca mulatta MMEL1 VGNC VGNC:74770
Rattus norvegicus MMEL1 RGD RGD:1309299
Others MMEL1 NCBI