SLC39A14 - solute carrier family 39 member 14 Gene

中文名称：溶质载体家族 39 成员 14

种属: Homo sapiens

同用名: HCIN; NET34; ZIP14; cig19; HMNDYT2; LZT-Hs4

基因 ID: 23516 | 基因类型: protein coding

关于 SLC39A14

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,367,278-22,434,129 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 83.2), duodenum (RPKM 51.4) and 20 other tissues.

功能概要

该基因编码二价金属转运蛋白 SLC39A 家族的一个成员，该家族介导锰、锌、铁和镉的细胞摄取。编码的蛋白质包含八个跨膜结构域、一个富含组氨酸的基序和一个金属蛋白酶基序，并在质膜和内吞囊泡膜上表达。它是非转铁蛋白结合铁的重要转运蛋白和锰稳态的关键调节剂。该基因中自然发生的突变与脑铁积累引起的神经变性和早发性帕金森病-肌张力障碍伴高锰血症有关。[RefSeq 提供，2017 年 5 月]

This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]

SLC39A14 基因产物(10)

mRNA	Protein	Name
NM_001128431.4	NP_001121903.1	metal cation symporter ZIP14 isoform a precursor
NM_001135153.3	NP_001128625.1	metal cation symporter ZIP14 isoform a precursor
NM_001135154.3	NP_001128626.1	metal cation symporter ZIP14 isoform c precursor
NM_001351655.2	NP_001338584.1	metal cation symporter ZIP14 isoform a precursor
NM_001351656.2	NP_001338585.1	metal cation symporter ZIP14 isoform a precursor
NM_001351657.2	NP_001338586.1	metal cation symporter ZIP14 isoform d
NM_001351658.2	NP_001338587.1	metal cation symporter ZIP14 isoform d
NM_001351659.2	NP_001338588.1	metal cation symporter ZIP14 isoform d
NM_001351660.2	NP_001338589.1	metal cation symporter ZIP14 isoform a precursor
NM_015359.6	NP_056174.2	metal cation symporter ZIP14 isoform b 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 manganese ion transmembrane transporter activity	IDA IDA: 通过直接分析推断	27231142	GOA
enables manganese ion transmembrane transporter activity	IMP IMP: 通过突变表型推断	31028174	GOA
enables monoatomic cation:bicarbonate symporter activity	IDA IDA: 通过直接分析推断	31699897	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables zinc ion transmembrane transporter activity	IDA IDA: 通过直接分析推断	15642354	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in import across plasma membrane	IMP IMP: 通过突变表型推断	31028174	GOA
involved in intracellular zinc ion homeostasis	IDA IDA: 通过直接分析推断	15642354	GOA
involved in iron import into cell	IMP IMP: 通过突变表型推断	20682781	GOA
involved in iron ion transmembrane transport	IMP IMP: 通过突变表型推断	20682781	GOA
involved in manganese ion transmembrane transport	IMP IMP: 通过突变表型推断	31028174	GOA
involved in zinc ion import across plasma membrane	IDA IDA: 通过直接分析推断	15642354	GOA
involved in zinc ion transmembrane transport	IDA IDA: 通过直接分析推断	21917916	GOA
involved in zinc ion transmembrane transport	IMP IMP: 通过突变表型推断	15642354	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	31699897	GOA
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	31028174	GOA
located in early endosome membrane	IDA IDA: 通过直接分析推断	20682781	GOA
located in late endosome membrane	IDA IDA: 通过直接分析推断	27703010	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	20682781	GOA
located in membrane	IDA IDA: 通过直接分析推断	21917916	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	15642354	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

SLC39A14 蛋白结构

Zip

0
100
200
300
400
492 a.a.

蛋白主名

其他名称

metal cation symporter ZIP14

LIV-1 subfamily of ZIP zinc transporter 4

关联疾病

疾病名称

别名

Hypermanganesemia With Dystonia 2

HMNDYT2	Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia With Dystonia, Type 2

Hyperostosis Cranialis Interna

HCIN	Hyperostosis Cranalis Interna

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Hyperostosis

Hypertrophy Of Bone	Bone Hypertrophy
Bone Thickening	Periosteum Thickening

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Hypermanganesemia With Dystonia 1

Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis	HMNDYT1
Hmdpc	Hypermanganesemia With Dystonia Polycythemia And Cirrhosis
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, Chronic Liver Disease	Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome

Osteoblastoma

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Acrodermatitis Enteropathica, Zinc-Deficiency Type

Acrodermatitis Enteropathica	AEZ
Enteropathica	Brandt Syndrome
Ae	Acrodermatitis Enteropathica Zinc Deficiency Type
Danbolt-Cross Syndrome	Acrodermatitis Enteropathica, Zinc Deficiency Type
Inherited Zinc Deficiency	Acrodermatitis Enteropathica, Zinc Deficiency
Danbolt-Closs Syndrome	Primary Zinc Malabsorption Syndrome

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
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Atransferrinemia

Familial Hypotransferrinemia	Congenital Atransferrinemia
Hypotransferrinemia, Familial	Congenital Hypotransferrinemia
ATRAF

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like	Scd-Eds
EDSSPD3	Ehlers-Danlos Syndrome Spondylodysplastic Type 3
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type	Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Slc39a13-Related Speds	Slc39a13-Related Spondylodysplastic Eds
Spondylocheirodysplastic Ehlers-Danlos Syndrome	Speds-Slc39a13
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia	Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

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

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Scoliosis

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

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

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-RS13233	SLC39A14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	SLC39A14	VGNC	VGNC:46402
Bos taurus	SLC39A14	VGNC	VGNC:34862
Felis catus	SLC39A14	VGNC	VGNC:65358
Mus musculus	SLC39A14	MGD	MGI:2384851
Rattus norvegicus	SLC39A14	RGD	RGD:1307026
Macaca mulatta	SLC39A14	VGNC	VGNC:77537

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