1. Gene
  2. KHK - ketohexokinase Gene

KHK - ketohexokinase Gene

中文名称:酮己糖激酶

种属: Homo sapiens

同用名: FRUCTU

基因 ID: 3795 | 基因类型: protein coding

关于 KHK

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,086,772-27,100,762 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 77.2), liver (RPKM 59.5) and 2 other tissues.

功能概要

该基因编码催化果糖转化为果糖-1-磷酸的酮己糖激酶。该基因的产物是第一种具有分解代谢膳食果糖的特殊途径的酶。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes Ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first Enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

KHK 基因产物(2)

mRNA Protein Name
NM_000221.3 NP_000212.1 ketohexokinase isoform a
NM_006488.3 NP_006479.1 ketohexokinase isoform b
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP binding IDA
IDA: 通过直接分析推断
19237742 GOA
enables fructose binding IDA
IDA: 通过直接分析推断
19237742 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
19237742 GOA
enables ketohexokinase activity IDA
IDA: 通过直接分析推断
12941785 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
19237742 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fructose metabolic process IDA
IDA: 通过直接分析推断
12941785 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

KHK 蛋白结构

PfkB

PfkB: pfkB family carbohydrate kinase (4 - 290)

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

ketohexokinase

fructokinase

KHK 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KHK P50053 LHX9 Homo sapiens Q9NQ69 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KHK 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70146 Ketohexokinase/KHK Protein, Human (HEK293, His) AAH06233.1 (M1-V298) ≥95%

关联疾病

疾病名称 别名
Fructosuria, Essential

Essential Fructosuria

Ketohexokinase Deficiency

Fructosuria

Hepatic Fructokinase Deficiency

Fructokinase Deficiency

FRUCT

Deficiency Of Fructokinase

Advanced Sleep Phase Syndrome, Familial, 3

Advanced Sleep Phase Syndrome 3

FASPS3

Familial Advanced Sleep Phase Syndrome 3

Sleep Phase Syndrome, Advanced, Familial, Type 3

Basidiobolomycosis

Infection By Basidiobolus

Subcutaneous Mucoromycosis Due To Basidiobolus Ranarum

Retinitis Pigmentosa 62

RP62

Retinitis Pigmentosa, Type 62

Lumbosacral Lipoma
Fructose Intolerance, Hereditary

Hereditary Fructose Intolerance

Fructose Intolerance

Fructose-1-Phosphate Aldolase Deficiency

Fructose-1,6-Bisphosphate Aldolase B Deficiency

Aldolase B Deficiency

Fructosemia

Aldob Deficiency

Hereditary Fructose Intolerance Syndrome

HFI

Fructosaemia

Hereditary Fructose-1-Phosphate Aldolase Deficiency

Fructose Aldolase B Deficiency

Fructose-1,6-Biphosphate Aldolase Deficiency

Hereditary Fructosemia

Fructosemia, Hereditary

Hereditary Fructosaemia

Fructose-Biphosphate Aldolase B Deficiency

Fructose Intolerance Of Newborn

Aldb - [Aldolase B] Deficiency

Deficiency Of Fructose-Bisphosphate Aldolase

Renal Artery Atheroma

Atherosclerosis Of Renal Artery

Renal Atherosclerosis

Atherosclerotic Renal Disease

Ras - [Renal Artery Stenosis]

Renal Arterial Arteriosclerosis

Renal Arterial Arteriosclerotic Disease

Renal Arterial Stricture

Renal Artery Stricture

Renal Artery Stenosis Of Unknown Cause

Renal Artery Stenosis Due To Atherosclerosis

Renal Artery Stenosis

Renal Artery Arteriosclerotic Disease

Renal Artery Arteriosclerosis

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 KHK VGNC VGNC:42338
Felis catus KHK VGNC VGNC:67937
Rattus norvegicus KHK RGD RGD:2966
Macaca mulatta KHK VGNC VGNC:74014
Mus musculus KHK MGD MGI:1096353
Bos taurus KHK VGNC VGNC:30543
Others KHK NCBI