1. Gene
  2. SLC30A5 - solute carrier family 30 member 5 Gene

SLC30A5 - solute carrier family 30 member 5 Gene

中文名称:溶质载体家族 30 成员 5

种属: Homo sapiens

同用名: ZNT5; ZTL1; ZNTL1; ZnT-5

基因 ID: 64924 | 基因类型: protein coding

关于 SLC30A5

Cytogenetic location: 5q13.1-q13.2 Genomic coordinates (GRCh38): 5:69,094,014-69,131,069 (from NCBI)

This gene has 8 transcripts (splice variants), 202 orthologues and 8 paralogues. Ubiquitous expression in thyroid (RPKM 17.6), gall bladder (RPKM 11.0) and 25 other tissues.

功能概要

该基因编码锌转运蛋白 SLC30A/ZnT 家族的一个成员。 ZnT 蛋白介导细胞锌流出和锌螯合到膜结合细胞器中。编码的蛋白质作为锌转运蛋白 6 的异二聚体在早期分泌途径中发挥作用,并且还可以调节锌螯合到胰腺 β 细胞的分泌颗粒中。已经观察到该基因编码多种亚型的选择性剪接转录变体,并且该基因的假基因位于 19 号染色体的长臂上。[RefSeq 提供,2011 年 10 月]

This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]

SLC30A5 基因产物(3)

mRNA Protein Name
NM_001251969.2 NP_001238898.1 zinc transporter 5 isoform 3
NM_022902.5 NP_075053.2 zinc transporter 5 isoform 1
NM_024055.5 NP_076960.1 zinc transporter 5 isoform 2
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
NOT enables cadmium ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
22529353 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15994300 GOA
enables zinc efflux transmembrane transporter activity IDA
IDA: 通过直接分析推断
17355957 GOA
enables zinc ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
11904301 GOA
enables zinc:proton antiporter activity IDA
IDA: 通过直接分析推断
19366695 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of positive effect GPI anchor biosynthetic process IMP
IMP: 通过突变表型推断
35525268 GOA
acts upstream of or within cobalt ion transport IDA
IDA: 通过直接分析推断
11937503 GOA
involved in intracellular zinc ion homeostasis IDA
IDA: 通过直接分析推断
11937503 GOA
involved in response to zinc ion IDA
IDA: 通过直接分析推断
11937503 GOA
involved in zinc ion import across plasma membrane IDA
IDA: 通过直接分析推断
17355957 GOA
involved in zinc ion import into Golgi lumen IDA
IDA: 通过直接分析推断
15525635 GOA
involved in zinc ion import into organelle IDA
IDA: 通过直接分析推断
11904301 GOA
involved in zinc ion import into organelle IMP
IMP: 通过突变表型推断
35525268 GOA
involved in zinc ion transport IDA
IDA: 通过直接分析推断
11937503 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ER to Golgi transport vesicle membrane IDA
IDA: 通过直接分析推断
15525635 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
17349999 GOA
located in Golgi cis cisterna membrane IDA
IDA: 通过直接分析推断
11904301 GOA
located in Golgi membrane IDA
IDA: 通过直接分析推断
21887337 GOA
located in apical plasma membrane IDA
IDA: 通过直接分析推断
11937503 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
21887337 GOA
located in membrane IDA
IDA: 通过直接分析推断
11904301 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17355957 GOA
located in secretory granule membrane IDA
IDA: 通过直接分析推断
11904301 GOA
located in trans-Golgi network membrane IDA
IDA: 通过直接分析推断
19366695 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

SLC30A5 蛋白结构

Cation_efflux

Cation_efflux: Cation efflux family (419 - 727)

  • 0
  • 200
  • 400
  • 600
  • 765 a.a.
蛋白主名 其他名称

zinc transporter 5

solute carrier family 30 (zinc transporter), member 5

关联疾病

疾病名称 别名
Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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

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

Hypermanganesemia With Dystonia 2

HMNDYT2

Dystonia-Parkinsonism-Hypermanganesemia Syndrome

Hypermanganesemia With Dystonia, Type 2

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Mucinous Stomach Adenocarcinoma

Mucinous Adenocarcinoma Of The Stomach

Mucinous Gastric Adenocarcinoma

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

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
Rattus norvegicus SLC30A5 RGD RGD:1306931
Canis familiaris SLC30A5 VGNC VGNC:46350
Bos taurus SLC30A5 VGNC VGNC:34809
Mus musculus SLC30A5 MGD MGI:1916298
Felis catus SLC30A5 VGNC VGNC:65311
Macaca mulatta SLC30A5 VGNC VGNC:77512