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

MMEL1 - membrane metalloendopeptidase like 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：膜金属内肽酶 1

种属: Homo sapiens

同用名: NL1; NL2; SEP; NEP2; MMEL2; NEPII

基因 ID: 79258 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是中性内肽酶 (NEP) 或膜金属内肽酶 (MME) 家族的成员。家族成员在痛觉、动脉压调节、磷酸盐代谢和体内平衡方面起着重要作用。该蛋白是一种 II 型跨膜蛋白，被认为是一种分泌蛋白。该基因主要在睾丸中表达，在脑、肾和心脏中表达较弱。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_033467.4 NP_258428.2 membrane metallo-endopeptidase-like 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables endopeptidase activity IDA
IDA: 通过直接分析推断
18539150 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteolysis IDA
IDA: 通过直接分析推断
18539150 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
18539150 GOA
located in membrane IDA
IDA: 通过直接分析推断
18539150 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MMEL1 蛋白结构

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.
蛋白主名 其他名称

membrane metallo-endopeptidase-like 1

NEP2(m)

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08514 MMEL1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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