1. Gene
  2. SLC30A9 - solute carrier family 30 member 9 Gene

SLC30A9 - solute carrier family 30 member 9 Gene

中文名称:溶质载体家族 30 成员 9

种属: Homo sapiens

同用名: HUEL; ZNT9; GAC63; C4orf1; BILAPES

基因 ID: 10463 | 基因类型: protein coding

关于 SLC30A9

Cytogenetic location: 4p13 Genomic coordinates (GRCh38): 4:41,990,530-42,090,461 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 32.5), brain (RPKM 27.2) and 25 other tissues.

功能概要

预测启用核受体共激活因子活性。参与细胞锌离子稳态和锌离子转运。位于几种细胞成分中,包括细胞质囊泡;细胞骨架;和内质网。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable nuclear receptor coactivator activity. Involved in cellular zinc ion homeostasis and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

SLC30A9 基因产物(1)

mRNA Protein Name
NM_006345.4 NP_006336.3 zinc transporter 9
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 zinc ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
34716203 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular zinc ion homeostasis IMP
IMP: 通过突变表型推断
28334855 GOA
involved in regulation of mitochondrion organization IDA
IDA: 通过直接分析推断
34716203 GOA
involved in zinc ion transport IMP
IMP: 通过突变表型推断
28334855 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
28334855 GOA
located in cytoskeleton IDA
IDA: 通过直接分析推断
10409434 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
28334855 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
34716203 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10409434 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

SLC30A9 蛋白结构

Cation_efflux

Cation_efflux: Cation efflux family (242 - 518)

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

zinc transporter 9

GRIP1-dependent nuclear receptor coactivator

关联疾病

疾病名称 别名
Birk-Landau-Perez Syndrome

Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome

BILAPES

Cerebrorenal Syndrome, Perez Type

Mucinous Stomach Adenocarcinoma

Mucinous Adenocarcinoma Of The Stomach

Mucinous Gastric Adenocarcinoma

Hemochromatosis, Type 5

Hemochromatosis Type 5

HFE5

Fth1-Related Iron Overload

Iron Overload, Autosomal Dominant

Fth1-Associated Iron Overload

Hemochromatosis 5

Autosomal Dominant Iron Overload

Myasthenic Syndrome, Congenital, 10

Congenital Myasthenic Syndrome 10

CMS10

Lgm

Myasthenia, Limb-Girdle, Familial

Myasthenia, Limb-Girdle, Familial, Formerly

Lgm, Formerly

Congenital Myasthenic Syndrome Type Ib, Formerly

Cms1b, Formerly

Cms Ib, Formerly

Myasthenic Myopathy, Formerly

Familial Limb-Girdle Myasthenia

Cms1b

Cms Ib

Congenital Myasthenic Syndrome Type 1b

Congenital Myasthenic Syndrome Type Ib

Myasthenic Myopathy

Myasthenic Syndrome, Congenital, Type 10

Congenital Myasthenic Syndrome Ib

Myopathy In Myasthenia Gravis

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

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
Bos taurus SLC30A9 VGNC VGNC:34812
Macaca mulatta SLC30A9 VGNC VGNC:77464
Canis familiaris SLC30A9 VGNC VGNC:46354
Rattus norvegicus SLC30A9 RGD RGD:1593180
Mus musculus SLC30A9 MGD MGI:1923690
Felis catus SLC30A9 VGNC VGNC:65315