1. Gene
  2. NT5E - 5'-nucleotidase ecto Gene

NT5E - 5'-nucleotidase ecto Gene

中文名称:5'-核苷酸酶外

种属: Homo sapiens

同用名: NT; eN; NT5; NTE; eNT; CD73; E5NT; CALJA

基因 ID: 4907 | 基因类型: protein coding

关于 NT5E

Cytogenetic location: 6q14.3 Genomic coordinates (GRCh38): 6:85,450,083-85,495,784 (from NCBI)

This gene has 5 transcripts (splice variants), 249 orthologues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 30.0), ovary (RPKM 19.6) and 22 other tissues.

功能概要

由该基因编码的蛋白质是一种质膜蛋白,可催化细胞外核苷酸转化为可透过膜的核苷。编码的蛋白质用作淋巴细胞分化的决定因素。该基因的缺陷会导致关节和动脉钙化。已发现该基因编码不同亚型的两个转录变体。[RefSeq 提供,2011 年 3 月]

The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

NT5E 基因产物(2)

mRNA Protein Name
NM_002526.4 NP_002517.1 5'-nucleotidase isoform 1 preproprotein
NM_001204813.2 NP_001191742.1 5'-nucleotidase isoform 2 preproprotein

NT5E 蛋白结构

Metallophos

Metallophos: Calcineurin-like phosphoesterase (29 - 244)

5_nucleotid_C

5_nucleotid_C: 5'-nucleotidase, C-terminal domain (339 - 512)

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  • 574 a.a.
蛋白主名 其他名称

5'-nucleotidase

5'-NT

Purine 5-Prime-Nucleotidase

ecto-5'-nucleotidase

重组 NT5E 蛋白

关联疾病

疾病名称 别名
Spondylometaphyseal Dysplasia With Corneal Dystrophy

SMDCD

Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome

Smd-Corneal Dystrophy Syndrome

Arterial Calcification Of Infancy

Idiopathic Infantile Arterial Calcification

Generalized Arterial Calcification Of Infancy

Iiac

Occlusive Infantile Arteriopathy

Infantile Arteriosclerosis

Gaci

Idiopathic Obliterative Arteriopathy

Generalized Arterial Calcification In Infancy

Arteriopathia Calcificans Infantum

Diffuse Arterial Calcifying Elastopathy Of Infancy

Infantile Calcifying Arteriopathy

Medial Coronary Sclerosis Of Infancy

Coronary Sclerosis, Medial, Of Infancy

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Osteochondrodysplasia

Chondrodystrophy

Skeletal Dysplasia

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Brain Edema

Intracranial Swelling

Wet Brain

Cerebral Edema

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Anal Fistula

Anorectal Fistula

Rectal Fistula

Allingham Ulcer

Perianal Fistula

Fistula In Ano

Anorectum Fistula

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Calciphylaxis

Idiopathic Calciphylaxis

Inflammatory Bowel Disease 14

IBD14

Inflammatory Bowel Disease 14, Susceptibility To

Bowel Disease, Inflammatory, Type 14

Tibial Nerve Palsy
Germ Cell And Embryonal Cancer

Germ Cell And Embryonal Neoplasm

Intermittent Claudication

Charcot'S Syndrome

Amyotrophic Lateral Sclerosis

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency Disease

Primary Immunodeficiency

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Limb Ischemia
Dermatitis, Atopic, 7

ATOD7

Dermatitis, Atopic, Susceptibility To, 7

Atopic Dermatitis 7

Dermatitis, Atopic 7

Retinitis Pigmentosa 89

RP89

Dental Pulp Necrosis

Pulp Necrosis

Necrotic Pulp

Necrosis Of The Pulp

Dead Pulp

Devitalised Pulp

Putrescent Pulpitis

Devitalized Tooth

Dental Pulp Gangrene

Pulp Gangrene

Nonvital Tooth

Pulpless Tooth

Putrescent Pulp

Periarthritis
Calcification Of Joints And Arteries

Hereditary Arterial And Articular Multiple Calcification Syndrome

CALJA

Arterial Calcification Due To Deficiency Of Cd73

Acdc

Arterial Calcification And Distal Joint Calcification

Arterial Calcification Due To Cd73 Deficiency

Arterial Calcification Due To Deficiency Of Cd73:Acdc

Calcification Of Joints And Arteries

Calja

Dental Pulp Disease

Dental Pulp Diseases

Dental Pulp Disorder

Disorder Of Pulp Of Tooth

Pulp Disorder

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Adhesions Of Uterus

Intrauterine Adhesions

Intrauterine Synechiae

Band Of Uterus

Asherman Syndrome

Internal Adhesion Of Uterus

Internal Band Of Uterus

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NT5E RGD RGD:61956
Macaca mulatta NT5E VGNC VGNC:75537
Canis familiaris NT5E VGNC VGNC:44000
Felis catus NT5E VGNC VGNC:68574
Mus musculus NT5E MGD MGI:99782
Macaca fascicularis NT5E NCBI NCBI:102114976
Others NT5E NCBI