1. Gene
  2. GPI - glucose-6-phosphate isomerase Gene

GPI - glucose-6-phosphate isomerase Gene

中文名称:6-磷酸葡萄糖异构酶

种属: Homo sapiens

同用名: AMF; NLK; PGI; PHI; GNPI; SA36; SA-36

基因 ID: 2821 | 基因类型: protein coding

关于 GPI

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:34,359,718-34,402,413 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 278 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 54.9), fat (RPKM 52.6) and 25 other tissues.

功能概要

该基因编码葡萄糖磷酸异构酶蛋白家族的一个成员。编码的蛋白质已被确定为基于其执行机械不同功能的能力的兼职蛋白质。在细胞质中,该基因产物作为糖酵解酶 (6-磷酸葡萄糖异构酶) 发挥作用,可相互转化 6-磷酸葡萄糖和 6-磷酸果糖。在细胞外,编码的蛋白质 (也称为神经白细胞介素) 作为促进骨骼运动神经元和感觉神经元存活的神经营养因子,以及作为诱导免疫球蛋白分泌的淋巴因子发挥作用。基于作为肿瘤分泌的细胞因子和血管生成因子的附加功能,编码的蛋白质也被称为自分泌运动因子。该基因的缺陷是非球形红细胞溶血性贫血的原因,严重的酶缺乏可能与胎儿水肿、新生儿即刻死亡和神经损伤有关。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 8 月]

This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic Enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe Enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

GPI 基因产物(7)

mRNA Protein Name
NM_000175.5 NP_000166.2 glucose-6-phosphate isomerase isoform 2
NM_001184722.1 NP_001171651.1 glucose-6-phosphate isomerase isoform 1
NM_001289789.1 NP_001276718.1 glucose-6-phosphate isomerase isoform 3
NM_001289790.3 NP_001276719.1 glucose-6-phosphate isomerase isoform 4
NM_001329909.1 NP_001316838.1 glucose-6-phosphate isomerase isoform 2
NM_001329910.1 NP_001316839.1 glucose-6-phosphate isomerase isoform 2
NM_001329911.2 NP_001316840.1 glucose-6-phosphate isomerase isoform 5

GPI 蛋白结构

PGI

PGI: Phosphoglucose isomerase (54 - 546)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 558 a.a.
蛋白主名 其他名称

glucose-6-phosphate isomerase

autocrine motility factor

重组 GPI 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71680 Glucose-6-phosphate isomerase Protein, Human (His) P06744-1 (A2-E554) ≥95%

关联疾病

疾病名称 别名
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency

Hemolytic Anemia Due To Glucophosphate Isomerase Deficiency

Hemolytic Anemia, Non-Spherocytic, Due To Glucose Phosphate Isomerase Deficiency

HA-GPID

Anemia, Hemolytic, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Congenital Nonspherocytic Hemolytic Anemia

Hereditary Non-Spherocytic Hemolytic Anemia

Hereditary Nonspherocytic Hemolytic Anemia

Anemia, Hemolytic, Congenital Nonspherocytic

Congenital Nonspherocytic Hemolytic Anaemia

Hereditary Nonspherocytic Hemolytic Anaemia

Hnsha

Cutaneous Leishmaniasis

Diffuse Cutaneous Leishmaniasis

Asian Desert Cutaneous Leishmaniasis

Leishmaniasis, Cutaneous

Leproid Leishmaniasis

Leishmaniasis Diffuse Cutaneous

Leishmaniasis Cutaneous

Ethiopian Cutaneous Leishmaniasis

Old World Cutaneous Leishmaniasis

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Transient Arthritis
Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii

Dermatitis, Atopic, 7

ATOD7

Dermatitis, Atopic, Susceptibility To, 7

Atopic Dermatitis 7

Dermatitis, Atopic 7

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I

Cda I

CDAN1A

Congenital Dyserythropoietic Anemia Type 1

Congenital Dyserythropoietic Anemia Type Ia

Congenital Dyserythropoietic Anemia, Type I

Anemia, Congenital Dyserythropoietic, Type I

Cda Type 1

Cda Type I

Cda Ia

Dyserythropoietic Anemia, Congenital Type 1

Anemia, Congenital Dyserythropoietic, Type 1a

Dyserythropoietic Anemia, Congenital, Type Ia

Cda, Type Ia

Congenital Dyserythropoietic Anaemia Type 1

Congenital Dyserythropoietic Anaemia Type I

Anemia, Dyserythropoietic, Congenital Type 1

Type I Congenital Dyserythropoietic Anemia

Anemia, Congenital Dyserythropoietic, 1a

Anemia, Dyserythropoietic, Congenital, Type Ia

Triosephosphate Isomerase Deficiency

TPID

Triose Phosphate-Isomerase Deficiency

Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency

Tpi Deficiency

Triose Phosphate Isomerase Deficiency

Deficiency Of Phosphotriose Isomerase

Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

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 GPI VGNC VGNC:41381
Felis catus GPI VGNC VGNC:67409
Bos taurus GPI VGNC VGNC:29534
Rattus norvegicus GPI RGD RGD:2727
Mus musculus GPI MGD MGI:95797
Macaca fascicularis GPI NCBI NCBI:101865104
Macaca mulatta GPI NCBI NCBI:717980
Others GPI NCBI