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  2. SLC40A1 - solute carrier family 40 member 1 Gene

SLC40A1 - solute carrier family 40 member 1 Gene

中文名称:溶质载体家族 40 成员 1

种属: Homo sapiens

同用名: FPN1; HFE4; MTP1; IREG1; MST079; MSTP079; SLC11A3

基因 ID: 30061 | 基因类型: protein coding

关于 SLC40A1

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:189,560,590-189,580,786 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 192.7), ovary (RPKM 171.6) and 22 other tissues.

功能概要

该基因编码的蛋白质是一种细胞膜蛋白,可能参与十二指肠上皮细胞的铁输出。该基因的缺陷是 4 型血色素沉着症 (HFE4) 的原因。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

SLC40A1 基因产物(2)

mRNA Protein Name
XM_047444066.1 XP_047300022.1 solute carrier family 40 member 1 isoform X1
NM_014585.6 NP_055400.1 solute carrier family 40 member 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 ferrous iron transmembrane transporter activity IDA
IDA: 通过直接分析推断
15692071 GOA
enables iron ion transmembrane transporter activity IMP
IMP: 通过突变表型推断
12091367 GOA
enables peptide hormone binding IDA
IDA: 通过直接分析推断
29237594 GOA
enables peptide hormone binding IPI
IPI: 通过物理相互作用推断
22682227 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20817278 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular iron ion homeostasis IMP
IMP: 通过突变表型推断
12091367 GOA
involved in iron ion transmembrane transport IMP
IMP: 通过突变表型推断
12091367 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in basolateral plasma membrane IDA
IDA: 通过直接分析推断
10882071 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
20019163 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20019163 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

SLC40A1 蛋白结构

FPN1

FPN1: Ferroportin1 (FPN1) (23 - 531)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 571 a.a.
蛋白主名 其他名称

solute carrier family 40 member 1

iron regulated gene 1

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3

solute carrier family 40 (iron-regulated transporter), member 1

SLC40A1 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
SLC40A1 Q9NP59 APP Homo sapiens P05067 20817278
种属间: 跨种属相互作用 种属内: 同种属相互作用

SLC40A1 抗体

目录号 产品名 应用 反应物种
HY-P81218 SLC40A1 Antibody WB, ELISA Human

关联疾病

疾病名称 别名
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

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

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

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Hereditary Haemochromatosis

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Hemochromatosis, Type 3

Hemochromatosis Type 3

HFE3

Hemochromatosis Due To Defect In Transferrin Receptor 2

Tfr2-Related Hemochromatosis

Tfr2-Related Hereditary Hemochromatosis

Hemochromatosis 3

Rare Hereditary Hemochromatosis

Iron Overload

Iron Overload Disease

Idiopathic Haemosiderosis

Hemosiderosis

Hemochromatosis, Type 4

Hemochromatosis Type 4

Hemochromatosis Due To Defect In Ferroportin

HFE4

Hemochromatosis, Autosomal Dominant

Autosomal Dominant Hereditary Hemochromatosis

Ferroportin Disease

Hemochromatosis 4

Hemochromatosis Autosomal Dominant

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Siderosis

Pulmonary Siderosis

Deposition Of Iron

Arc-Welders' Disease

Arc-Welders' Lung

Arc-Welders' Nodulation

Arc-Welders' Pneumoconiosis

Iron Oxide Lung

Iron Pneumoconiosis

Pneumoconiosis Siderotico

Siderotic Lung Disease

Steel Grinders' Disease

Welders' Lung

Welders' Siderosis

Lung Fibrosis With Siderosis

Tendinitis

Tendinopathy

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome

Hhcs

Hereditary Hyperferritinemia With Congenital Cataracts

Hyperferritinemia, Hereditary, With Congenital Cataracts

Bonneau-Beaumont Syndrome

HRFTC

Hereditary Hyperferritinemia-Cataract Syndrome

Cataract-Hyperferritinemia Syndrome

Hyperferritinemia Cataract Syndrome

Hereditary Hyperferritinemia Cataract Syndrome

Atransferrinemia

Familial Hypotransferrinemia

Congenital Atransferrinemia

Hypotransferrinemia, Familial

Congenital Hypotransferrinemia

ATRAF

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Iron Metabolism Disease

Iron Deficiency

Iron Disorder

Iron Metabolism Disorders

Disorder Of Iron Metabolism

Iron

Fe Deficiency

Iron Storage Disease

Iron Storage Disorder

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Tenosynovitis

Inflammation Of Tendon Sheath

Synovitis Or Tenosynovitis

Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia

Porphyria

Hematoporphyria

Porphyrias

Disorder Of Porphyrin And Hem Metabolism

Disorder Of Porphyrin Metabolism

Porphyrinopathy

Porphyrin Disorder

Disorder Of Porphyrin And Heme Metabolism

Disorders Of Porphyrin Metabolism

Iron Deficiency Anemia

Iron-Deficiency Anemia

Fe Deficiency Anaemia

Ida - [Iron Deficiency Anemia]

Fe - [Iron] Deficiency Anemia Nos

Iron Overload In Africa

African Iron Overload

Bantu Siderosis

African Hemochromatosis

Hereditary Iron Overload And African Americans

African Nutritional Hemochromatosis

African Siderosis

Hemosiderosis

Haemosiderosis

Iron Overload

Hemochromatosis Type 2

Juvenile Hemochromatosis

Juvenile Hereditary Hemochromatosis

Hfe2

Jhh

Hemochromatosis Juvenile

Iron Overload Disease Juvenile

Hemochromatosis, Juvenile

Hemochromatosis, Type 2

Hemochromatosis

Hemochromatosis, Type 1

Anemia, Sideroblastic, 1

Xlsa

X-Linked Sideroblastic Anemia

Anh1

Hereditary Iron-Loading Anemia

Hypochromic Anemia

Anemia, Sideroblastic, X-Linked

Erythroid 5-Aminolevulinate Synthase Deficiency

Hereditary Sideroblastic Anemia

SIDBA1

Anemia, Hypochromic

Anemia, Hereditary Sideroblastic

Sideroblastic Anemia 1

Anemia Hypochromic

X Chromosome-Linked Sideroblastic Anemia

Sideroblastic Anaemia 1

X-Linked Sideroblastic Anaemia

Anemia Hereditary Sideroblastic

Anemia Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anemia

Sideroblastic Anemia X-Linked

Anemia, Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anaemia

X-Linked Pyridoxine-Responsive Sideroblastic Anemia

Anemia Congenital Sideroblastic

Anemia, Sideroblastic, Type 1

Sex-Linked Hypochromic Sideroblastic Anaemia

Autosomal Recessive Sideroblastic Anaemia

Familial Sex Linked Hypochromic Anaemia

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria

HEP

Uroporphyrinogen Decarboxylase Deficiency

Pct

Pct, Type Ii

Porphyria, Hepatocutaneous Type

Urod Deficiency

Porphyria, Hepatoerythropoietic

Porphyria Cutanea Tarda, Susceptibility To

Familial Porphyria Cutanea Tarda

Porphyria Cutanea Tarda, Type Ii

Pct, 'Familial' Type

Porphyria, Hepatic

FPCT

Pct Type Ii

Porphyria Cutanea Tarda Type Ii

Porphyria Hepatocutaneous Type

Heterozygous Uroporphyrinogen Decarboxylase Deficiency

Urod - [Uroporphyrinogen Decarboxylase] Deficiency

Pct - [Porphyria Cutanea Tarda]

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 SLC40A1 VGNC VGNC:65367
Macaca mulatta SLC40A1 VGNC VGNC:77384
Mus musculus SLC40A1 MGD MGI:1315204
Canis familiaris SLC40A1 VGNC VGNC:46411
Bos taurus SLC40A1 VGNC VGNC:34872
Rattus norvegicus SLC40A1 RGD RGD:620180
Others SLC40A1 NCBI