SLC46A1 - solute carrier family 46 member 1 Gene

中文名称：溶质载体家族 46 成员 1

种属: Homo sapiens

同用名: G21; HCP1; PCFT; hPCFT; HsPCFT

基因 ID: 113235 | 基因类型: protein coding

关于 SLC46A1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,394,642-28,406,592 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 45.1), small intestine (RPKM 21.0) and 22 other tissues.

功能概要

该基因编码跨膜质子偶联叶酸转运蛋白，可促进叶酸和抗叶酸底物跨细胞膜的移动，最适合在酸性 pH 环境中。这种蛋白质也在大脑和脉络丛中表达，将叶酸输送到中枢神经系统。这种蛋白质在十二指肠肠细胞中进一步发挥血红素转运体的作用，并可能在其他组织如肝脏和肾脏中发挥作用。它在肠细胞顶膜或细胞质中的定位受膳食铁水平的调节。该基因的突变与常染色体隐性遗传性叶酸吸收不良病有关。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2013 年 8 月]

This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and Antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in Other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

SLC46A1 基因产物(2)

mRNA	Protein	Name
NM_001242366.3	NP_001229295.1	proton-coupled folate transporter isoform 2
NM_080669.6	NP_542400.2	proton-coupled folate transporter isoform 1

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 transmembrane transporter activity	IDA IDA: 通过直接分析推断	17129779	GOA
enables folic acid transmembrane transporter activity	IMP IMP: 通过突变表型推断	19762432	GOA
enables folic acid:proton symporter activity	IDA IDA: 通过直接分析推断	19389703	GOA
NOT enables heme transmembrane transporter activity	IDA IDA: 通过直接分析推断	17129779	GOA
enables proton transmembrane transporter activity	IDA IDA: 通过直接分析推断	17129779	GOA
enables symporter activity	IDA IDA: 通过直接分析推断	17475902	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in folate import across plasma membrane	IDA IDA: 通过直接分析推断	19389703	GOA
involved in folate transmembrane transport	IMP IMP: 通过突变表型推断	17129779	GOA
involved in folic acid transport	IDA IDA: 通过直接分析推断	17129779	GOA
involved in folic acid transport	IMP IMP: 通过突变表型推断	31494288	GOA
involved in proton transmembrane transport	IDA IDA: 通过直接分析推断	17129779	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	17475902	GOA
is active in basolateral plasma membrane	IDA IDA: 通过直接分析推断	19074442	GOA
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	31791063	GOA
located in endosome	IDA IDA: 通过直接分析推断	19074442	GOA
is active in plasma membrane	IDA IDA: 通过直接分析推断	29344585	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	17129779	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

SLC46A1 蛋白结构

MFS_1

0
100
200
300
400
459 a.a.

蛋白主名

其他名称

proton-coupled folate transporter

heme carrier protein 1

关联疾病

疾病名称

别名

Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption	Congenital Defect Of Folate Absorption
Congenital Folate Malabsorption	Folic Acid Transport Defect
HFM

Folic Acid Deficiency Anemia

Folate Deficiency Anaemia	Folic Acid Deficiency Anaemia
Folate Deficiency Anemia	Folate-Deficiency Anaemia
Folate-Deficiency Anemia	Folate-Deficient Megaloblastic Anaemia
Megaloblastic Anemia Due To Folate Deficiency	Anaemia Of Folate Deficiency
Folate Or Folic Acid Deficiency Anaemia Nos	Folic Acid Deficiency Anaemia Nos
Acquired Megaloblastic Anaemia Due To Nutritional Folate Deficiency	Dietary Folic Acid Deficiency Anaemia
Dietary Folate Deficiency Anaemia	Folate Deficiency Anaemia Due To Dietary Causes
Goat'S Milk Anaemia	Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Increased Requirement
Megaloblastic Anaemia Due To Increased Requirements Of Folate	Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Intestinal Disorders
Acquired Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate	Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

Vitamin Metabolic Disorder

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

Thiamine Metabolism Dysfunction Syndrome 2

Biotin-Responsive Basal Ganglia Disease	Basal Ganglia Disease, Biotin-Responsive
THMD2	Bbgd
Btbgd	Encephalopathy, Thiamine-Responsive
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type	Thiamine-Responsive Encephalopathy

Pancytopenia

Choriocarcinoma Of The Testis

Testicular Choriocarcinoma

Tropical Sprue

Tropical Steatorrhea	Tropical Enteropathy
Sprue, Tropical	Sprue - Tropical
Idiopathic Tropical Malabsorption Syndrome	Tropical Steatorrhoea
Tropical Diarrhoea	Ts - [Tropical Sprue]
Psilosis	Sprue Nos

Subacute Leukemia

Megaloblastic Anemia

Imerslund-Grasbeck Syndrome	Igs
Defect Of Enterocyte Intrinsic Factor Receptor	Enterocyte Cobalamin Malabsorption
Familial Megaloblastic Anemia	Megaloblastic Anemia 1
Selective Cobalamin Malabsorption With Proteinuria	Imerslund-Gräsbeck Syndrome
Anemia, Megaloblastic	Grasbeck-Imerslund Syndrome
Megaloblastic Anaemia	Mga1 Norwegian Type
Recessive Hereditary Megaloblastic Anaemia 1	Recessive Hereditary Megaloblastic Anemia 1
Rh-Mga1	Gräsbeck-Imerslund Disease
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria	Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
Anemia Megaloblastic	Megaloblastic Anemia Due To Inborn Errors Of Metabolism
3-@Methylglutaconic Aciduria, Type I

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

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

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-RS13260	SLC46A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SLC46A1	VGNC	VGNC:34884
Mus musculus	SLC46A1	MGD	MGI:1098733
Felis catus	SLC46A1	VGNC	VGNC:65379
Rattus norvegicus	SLC46A1	RGD	RGD:1309472
Canis familiaris	SLC46A1	VGNC	VGNC:46426
Macaca mulatta	SLC46A1	VGNC	VGNC:77797
Others	SLC46A1	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

SLC46A1 - solute carrier family 46 member 1 Gene

关于 SLC46A1

功能概要

SLC46A1 基因产物(2)

SLC46A1 蛋白结构

关联疾病

直系同源

热门区域

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SLC46A1 - solute carrier family 46 member 1 Gene

关于 SLC46A1

功能概要

SLC46A1 基因产物(2)

SLC46A1 蛋白结构

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