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  2. FOLR1 - folate receptor alpha Gene

FOLR1 - folate receptor alpha Gene

中文名称:叶酸受体α

种属: Homo sapiens

同用名: FBP; FOLR; NCFTD; FRalpha

基因 ID: 2348 | 基因类型: protein coding

关于 FOLR1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:72,189,709-72,196,323 (from NCBI)

This gene has 5 transcripts (splice variants), 222 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 83.5), kidney (RPKM 59.8) and 4 other tissues.

功能概要

该基因编码的蛋白质是叶酸受体家族的成员。该基因家族的成员结合叶酸及其还原衍生物,并将 5-甲基四氢叶酸转运到细胞中。该基因产物是一种分泌蛋白,可通过糖基-磷脂酰肌醇键固定在膜上或以可溶形式存在。该基因的突变与脑叶酸转运缺陷引起的神经变性有关。由于存在两个启动子、多个转录起始位点和可变剪接,已发现该基因编码同一蛋白质的多个转录变体。[RefSeq 提供,2009 年 10 月]

The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]

FOLR1 基因产物(4)

mRNA Protein Name
NM_000802.3 NP_000793.1 folate receptor alpha precursor
NM_016724.3 NP_057936.1 folate receptor alpha precursor
NM_016725.3 NP_057937.1 folate receptor alpha precursor
NM_016729.3 NP_057941.1 folate receptor alpha precursor
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 folic acid binding IDA
IDA: 通过直接分析推断
2527252 GOA
enables folic acid receptor activity IMP
IMP: 通过突变表型推断
8033114 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to folic acid IDA
IDA: 通过直接分析推断
14722620 GOA
involved in folic acid transport IMP
IMP: 通过突变表型推断
8033114 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
10787414 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
10787414 GOA
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
2527252 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23243496 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

FOLR1 蛋白结构

Folate_rec

Folate_rec: Folate receptor family (36 - 211)

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

folate receptor alpha

FR-alpha

FOLR1 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
FOLR1 P15328 SLC35F6 Homo sapiens Q8N357
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 FOLR1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70296 FOLR1 Protein, Human (HEK293, His) P15328 (R25-S234) ≥95%
HY-P72371 FOLR1 Protein, Human (Biotinylated, HEK293, His-Avi) P15328 (R25-S234) ≥95%
HY-P78445 FOLR1 Protein, Human (HEK293, His-Avi) P15328 (R25-M233) ≥95%

关联疾病

疾病名称 别名
Neurodegeneration Due To Cerebral Folate Transport Deficiency

Cerebral Folate Transport Deficiency

Cerebral Folate Deficiency

NCFTD

Cerebral Folate Deficiency Syndrome

Folr1 Deficiency

Neurodegenerative Syndrome Due To Cerebral Folate Transport Deficiency

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Myelomeningocele

Meningomyelocele

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Choriocarcinoma Of The Testis

Testicular Choriocarcinoma

Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption

Congenital Defect Of Folate Absorption

Congenital Folate Malabsorption

Folic Acid Transport Defect

HFM

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Fallopian Tube Adenocarcinoma

Adenocarcinoma Of The Fallopian Tube

Leukodystrophy

Leukodystrophies

Serine Deficiency
Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD

Charcot-Marie-Tooth Neuropathy, Type 2dd

Charcot-Marie-Tooth Disease Type 2dd

Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Atp1a1-Related Cmt2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

Charcot-Marie-Tooth Disease 2dd

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy

PDE

Pyridoxine Dependency With Seizures

Vitamin B6-Dependent Seizures

EPD

Aasa Dehydrogenase Deficiency

Antiquitin Deficiency

Pyridoxine Dependency

Glutamate Decarboxylase Deficiency

Pyridoxine-Dependent Seizures

Deficiency Of Glutamate Decarboxylase

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
Felis catus FOLR1 VGNC VGNC:102889
Macaca mulatta FOLR1 VGNC VGNC:72689
Rattus norvegicus FOLR1 RGD RGD:71032
Mus musculus FOLR1 MGD MGI:95568
Canis familiaris FOLR1 NCBI
Macaca fascicularis FOLR1 NCBI NCBI:102132305
Others FOLR1 NCBI