1. Gene
  2. MMEL1 - membrane metalloendopeptidase like 1 Gene

MMEL1 - membrane metalloendopeptidase like 1 Gene

Homo sapiens

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

Gene ID: 79258 | Gene type: protein coding

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

MMEL1 Protein Structure

Peptidase_M13_N

Peptidase_M13_N: Peptidase family M13 (112 - 511)

Peptidase_M13

Peptidase_M13: Peptidase family M13 (572 - 778)

  • 0
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  • 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

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