1. Gene
  2. FGGY - FGGY carbohydrate kinase domain containing Gene

FGGY - FGGY carbohydrate kinase domain containing Gene

中文名称:含 FGGY 糖激酶结构域

种属: Homo sapiens

基因 ID: 55277 | 基因类型: protein coding

关于 FGGY

Cytogenetic location: 1p32.1 Genomic coordinates (GRCh38): 1:59,296,378-59,762,730 (from NCBI)

This gene has 25 transcripts (splice variants), 204 orthologues and 6 paralogues. Ubiquitous expression in liver (RPKM 2.1), kidney (RPKM 1.3) and 25 other tissues.

功能概要

该基因编码的蛋白质可使核酮糖、核糖醇和 L-阿拉伯糖醇等碳水化合物磷酸化。在一些人群中进行的全基因组关联研究发现该基因的多态性与散发性肌萎缩侧索硬化症之间存在关联,但对其他人群的研究未能复制这种关联。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 5 月]

This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of Other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

FGGY 基因产物(14)

mRNA Protein Name
NM_001113411.2 NP_001106882.1 FGGY carbohydrate kinase domain-containing protein isoform a
NM_001244714.2 NP_001231643.1 FGGY carbohydrate kinase domain-containing protein isoform c
NM_001278224.2 NP_001265153.1 FGGY carbohydrate kinase domain-containing protein isoform d
NM_001350790.2 NP_001337719.1 FGGY carbohydrate kinase domain-containing protein isoform a
NM_001350791.2 NP_001337720.1 FGGY carbohydrate kinase domain-containing protein isoform b
NM_001350792.2 NP_001337721.1 FGGY carbohydrate kinase domain-containing protein isoform e
NM_001350793.2 NP_001337722.1 FGGY carbohydrate kinase domain-containing protein isoform e
NM_001350794.2 NP_001337723.1 FGGY carbohydrate kinase domain-containing protein isoform f
NM_001350795.2 NP_001337724.1 FGGY carbohydrate kinase domain-containing protein isoform g
NM_001350796.2 NP_001337725.1 FGGY carbohydrate kinase domain-containing protein isoform h
NM_001350797.2 NP_001337726.1 FGGY carbohydrate kinase domain-containing protein isoform i
NM_001350798.2 NP_001337727.1 FGGY carbohydrate kinase domain-containing protein isoform j
NM_001350799.2 NP_001337728.1 FGGY carbohydrate kinase domain-containing protein isoform k
NM_018291.5 NP_060761.3 FGGY carbohydrate kinase domain-containing protein isoform b
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carbohydrate phosphorylation IDA
IDA: 通过直接分析推断
27909055 GOA
involved in neuron cellular homeostasis IMP
IMP: 通过突变表型推断
17671248 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

FGGY 蛋白结构

FGGY_N

FGGY_N: FGGY family of carbohydrate kinases, N-terminal domain (11 - 267)

FGGY_C

FGGY_C: FGGY family of carbohydrate kinases, C-terminal domain (290 - 496)

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  • 551 a.a.
蛋白主名 其他名称

FGGY carbohydrate kinase domain-containing protein

D-ribulokinase

关联疾病

疾病名称 别名
Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis

Spastic Paraplegia 7, Autosomal Recessive

SPG7

Hereditary Spastic Paraplegia 7

Spastic Paraplegia Type 7

Spastic Paraplegia 7

Hereditary Spastic Paraplegia, Paraplegin Type

Autosomal Recessive Spastic Paraplegia 7

Hereditary Spastic Paraplegia Paraplegin Type

Spastic Paraplegia-7

Paraplegia, Spastic, Autosomal Recessive, Type 7

Spastic Paraplegia, Hereditary

Autosomal Recessive Hereditary Spastic Paraplegia

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Glycerol Kinase Deficiency

Hyperglycerolemia

GKD

Gk Deficiency

Gk1 Deficiency

Deficiency Of Glycerol Kinase

Isolated Glycerol Kinase Deficiency

Glycerol Kinase Deficiency, Adult Form

Glycerol Kinase Deficiency, Juvenile Form

Deficiency, Glycerol Kinase

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Bos taurus FGGY VGNC VGNC:28991
Macaca mulatta FGGY VGNC VGNC:72576
Rattus norvegicus FGGY RGD RGD:1359429
Canis familiaris FGGY VGNC VGNC:40863
Mus musculus FGGY MGD MGI:1922828