PFKL - phosphofructokinase, liver type Gene

中文名称：磷酸果糖激酶，肝型

种属: Homo sapiens

同用名: PFK-B; PFK-L; ATP-PFK

基因 ID: 5211 | 基因类型: protein coding

关于 PFKL

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:44,300,053-44,327,373 (from NCBI)

This gene has 12 transcripts (splice variants), 211 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 49.4), duodenum (RPKM 37.4) and 25 other tissues.

功能概要

该基因编码一种酶的肝 (L) 亚基，该酶催化 D-果糖 6-磷酸转化为 D-果糖 1,6-二磷酸，这是葡萄糖代谢 (糖酵解) 中的关键步骤。这种酶是一种四聚体，可能由不同组织中不同基因编码的不同亚基组成。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 3 月]

This gene encodes the liver (L) subunit of an Enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This Enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

PFKL 基因产物(2)

mRNA	Protein	Name
NM_001002021.3	NP_001002021.2	ATP-dependent 6-phosphofructokinase, liver type isoform a
NM_002626.6	NP_002617.3	ATP-dependent 6-phosphofructokinase, liver type isoform b

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 6-phosphofructokinase activity	IDA IDA: 通过直接分析推断	6444532	GOA
contributes to 6-phosphofructokinase activity	IMP IMP: 通过突变表型推断	6227635	GOA
enables ATP binding	IDA IDA: 通过直接分析推断	8780720	GOA
enables fructose binding	IDA IDA: 通过直接分析推断	8780720	GOA
enables fructose-6-phosphate binding	IDA IDA: 通过直接分析推断	6444721	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	6444721	GOA
enables kinase binding	IPI IPI: 通过物理相互作用推断	6444721	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	6444721	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in fructose 1,6-bisphosphate metabolic process	IDA IDA: 通过直接分析推断	22923583	GOA
involved in fructose 6-phosphate metabolic process	IDA IDA: 通过直接分析推断	6444532	GOA
involved in fructose 6-phosphate metabolic process	IMP IMP: 通过突变表型推断	6227635	GOA
involved in glycolytic process	IDA IDA: 通过直接分析推断	6227635	GOA
involved in response to glucose	IDA IDA: 通过直接分析推断	22923583	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of 6-phosphofructokinase complex	IDA IDA: 通过直接分析推断	6444532	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

PFKL 蛋白结构

PFK

0
200
400
600
780 a.a.

蛋白主名

其他名称

ATP-dependent 6-phosphofructokinase, liver type

6-phosphofructokinase type B

PFKL 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	PFKL	P17858	KRTAP10-7	Homo sapiens	P60409	Y2H Prey Pooling	25416956
种属内	PFKL	P17858	KRTAP10-7	Homo sapiens	P60409	Y2H Array	25416956
种属内	PFKL	P17858	KRTAP5-9	Homo sapiens	P26371	Y2H Prey Pooling	25416956
种属内	PFKL	P17858	KRTAP5-9	Homo sapiens	P26371	Validated Y2H	25416956
种属内	PFKL	P17858	PFKL	Homo sapiens	P17858	Affinity Chrom	6444721
种属内	PFKL	P17858	PFKM	Homo sapiens	P08237	Affinity Chrom	6444721
种属内	PFKL	P17858	PFKL	Homo sapiens	P17858	Y2H Array	25416956
种属内	PFKL	P17858	GTPBP3	Homo sapiens	Q969Y2	Validated Y2H	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

PFKL 抗体

目录号	产品名	应用	反应物种
HY-P81852	PFKL Antibody (YA1597)	WB, ICC/IF	Mouse, Rat

关联疾病

疾病名称

别名

Glycogen Storage Disease Vii

Glycogen Storage Disease Type Vii	Muscle Phosphofructokinase Deficiency
Tarui Disease	GSD7
Pfkm Deficiency	Gsd Vii
Glycogen Storage Disease, Type Vii	Glycogen Storage Disease Type 7
Phosphofructokinase Deficiency	Glycogenosis Type Vii
Phosphofructokinase Myopathy	Glycogenosis 7
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Gsd Due To Muscle Phosphofructokinase Deficiency
Gsd Type 7	Gsd Type Vii
Glycogenosis Due To Muscle Phosphofructokinase Deficiency	Glycogenosis Type 7
Glycogen Storage Disease 7	Gsd-Vii
Storage Disease, Glycogen, Type Vii

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

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

Fructosuria, Essential

Essential Fructosuria	Ketohexokinase Deficiency
Fructosuria	Hepatic Fructokinase Deficiency
Fructokinase Deficiency	FRUCT
Deficiency Of Fructokinase

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

Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive	Autosomal Recessive Robinow Syndrome
Covesdem Syndrome	RRS1
Costovertebral Segmentation Defect-Mesomelia Syndrome	Rrs
Costovertebral Segmentation Defect With Mesomelia, Formerly	Covesdem Syndrome, Formerly
Costovertebral Segmentation Defect With Mesomelia	Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly	Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly	Robinow, Autosomal Recessive Syndrome, Type 1

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Myopathy

Muscular Diseases

Myopathies

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10365	PFKL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	PFKL	VGNC	VGNC:81737
Mus musculus	PFKL	MGD	MGI:97547
Bos taurus	PFKL	VGNC	VGNC:32773
Felis catus	PFKL	VGNC	VGNC:68807
Rattus norvegicus	PFKL	RGD	RGD:3311
Canis familiaris	PFKL	VGNC	VGNC:44446

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PFKL - phosphofructokinase, liver type Gene

关于 PFKL

功能概要

PFKL 基因产物(2)

PFKL 蛋白结构

PFKL 蛋白互作信息

PFKL 抗体

关联疾病

直系同源

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PFKL - phosphofructokinase, liver type Gene

关于 PFKL

功能概要

PFKL 基因产物(2)

PFKL 蛋白结构

PFKL 蛋白互作信息

PFKL 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z