1. Gene
  2. G6PC3 - glucose-6-phosphatase catalytic subunit 3 Gene

G6PC3 - glucose-6-phosphatase catalytic subunit 3 Gene

中文名称:葡萄糖 6 磷酸酶催化亚基 3

种属: Homo sapiens

同用名: SCN4; UGRP

基因 ID: 92579 | 基因类型: protein coding

关于 G6PC3

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,070,673-44,076,344 (from NCBI)

This gene has 20 transcripts (splice variants), 192 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 23.0), kidney (RPKM 18.2) and 25 other tissues.

功能概要

该基因编码葡萄糖 6 磷酸酶 (G6Pase) 的催化亚基。 G6Pase 位于内质网 (ER) 中,在糖异生和糖原分解途径的最后一步催化 6-磷酸葡萄糖水解为葡萄糖和磷酸盐。该基因的突变导致常染色体隐性遗传的严重先天性中性粒细胞减少症。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 2 月]

This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

G6PC3 基因产物(6)

mRNA Protein Name
NM_001319945.2 NP_001306874.1 glucose-6-phosphatase 3 isoform 4
NM_001384165.1 NP_001371094.1 glucose-6-phosphatase 3 isoform 2
NM_001384166.1 NP_001371095.1 glucose-6-phosphatase 3 isoform 2
NM_001384167.1 NP_001371096.1 glucose-6-phosphatase 3 isoform 2
NM_001384168.1 NP_001371097.1 glucose-6-phosphatase 3 isoform 2
NM_138387.4 NP_612396.1 glucose-6-phosphatase 3 isoform 1

G6PC3 蛋白结构

PAP2

PAP2: PAP2 superfamily (56 - 192)

  • 0
  • 100
  • 200
  • 300
  • 346 a.a.
蛋白主名 其他名称

glucose-6-phosphatase 3

G-6-Pase 3

关联疾病

疾病名称 别名
Neutropenia, Severe Congenital, 4, Autosomal Recessive

Dursun Syndrome

SCN4

Neutropenia, Severe Congenital 4, Autosomal Recessive

DURSS

Pulmonary Arterial Hypertension Leukopenia And Atrial Septal Defect

Severe Congenital Neutropenia 4, Autosomal Recessive

Neutropenia, Severe Congenital, Type 4, Autosomal Recessive

Neutropenia, Severe Congenital, Autosomal Recessive 4

Severe Congenital Neutropenia 4

Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency

Scn4

Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome

Dursun Syndrome

Severe Congenital Neutropenia Type 4

Neutropenia

Leukopenia

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

G6pc3 Deficiency

Ubiquitous Glucose-6-Phosphatase Deficiency

Lymphopenia

Lymphocytopenia

Autosomal Recessive Severe Congenital Neutropenia
Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Whim Syndrome 1

Whim Syndrome

Whims

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis

WHIMS1

Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1

Myelokathexis, Isolated

Wilm

Warts-Infections-Leukopenia-Myelokatexis Syndrome

Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1

Glycogen Storage Disease Ia

Von Gierke Disease

Glycogen Storage Disease Type I

Glycogen Storage Disease I

Hepatorenal Form Of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease, Type I

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

GSD1A

Gsd1

Von Gierke'S Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease 1a

Glucose-6-Phosphate Transport Defect

Gsd Ia

Deficiency Of Glucose-6-Phosphatase

Glycogenosis Type I

Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

Glycogenosis Type 1

Glucose-6-Phosphate Deficiency

Gsd I

Gsd Type I

G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type Ia

Gsd Type 1a

Gsdia

Glycogen Storage Disease Due To G6p Deficiency Type Ia

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

Glycogenosis Type Ia

Gsd-Ia

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia

Cyclic Neutropenia

Cyclic Hematopoiesis

Cyclical Neutropenia

Neutropenia Cyclic

Cyclic Hematopoesis

Neutropenia, Cyclic

Cyclic Agranulocytosis

Neutropenia, Periodic

Cyclic Leucopenia

Periodic Neutropenia

Cyclic Haematopoiesis

CH

Hematopoiesis, Cyclic

Neutropenia, Cyclical

Myotonia
Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency

Leukocyte Adhesion Deficiency 1

LAD1

Lad

Lymphocyte Function-Associated Antigen 1 Immunodeficiency

Leukocyte Adhesion Deficiency Type I

Leukocyte Adhesion Deficiency Type 1

Linear Iga Bullous Dermatosis

Linear Iga Dermatosis

Leukocyte-Adhesion Deficiency Syndrome

Lfa1 Immunodeficiency

Congenital Leukocyte Adherence Deficiency

Lad-I

Linear Iga Disease

Leukocyte Adhesion Deficiency Syndrome

Lad 1

Lfa 1 Immunodeficiency

Linear Immunoglobulin A Dermatosis

Leucocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Molecule Deficiency Type 1

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

Pancytopenia
Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio Type

PN

Clericuzio Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio-Type

Clericuzio-Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia Clericuzio Type

Immune-Deficient Poikiloderma

Clericuzio-Type Poikiloderma Neutropenia Syndrome

Poikiloderma With Neutropenia Clericuzio-Type

Poikiloderma, With Neutropenia

Cohen Syndrome

Pepper Syndrome

COH1

Hypotonia, Obesity, And Prominent Incisors

Coh

Chs1, Formerly

Norio Syndrome

Obesity-Hypotonia Syndrome

Prominent Incisors-Obesity-Hypotonia Syndrome

Chs1

Hypotonia-Obesity-Prominent Incisors

Stage 4s Neuroblastoma

Chronic Pulmonary Heart Disease
Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Ulcerative Stomatitis

Stomatitis Ulcerative

Aphthous Stomatitis

Minor Oral Aphthous Ulceration

2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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
Canis familiaris G6PC3 VGNC VGNC:41042
Felis catus G6PC3 VGNC VGNC:62410
Mus musculus G6PC3 MGD MGI:1915651
Rattus norvegicus G6PC3 RGD RGD:727875
Macaca mulatta G6PC3 VGNC VGNC:104601
Bos taurus G6PC3 VGNC VGNC:29180