1. Gene
  2. SLC8A3 - solute carrier family 8 member A3 Gene

SLC8A3 - solute carrier family 8 member A3 Gene

中文名称:溶质载体家族 8 成员 A3

种属: Homo sapiens

同用名: NCX3

基因 ID: 6547 | 基因类型: protein coding

关于 SLC8A3

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:70,044,215-70,189,405 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and 7 paralogues. Biased expression in brain (RPKM 2.0), adrenal (RPKM 0.3) and 4 other tissues.

功能概要

该基因编码钠/钙交换整合膜蛋白家族的成员。 Na+/Ca2+ 交换蛋白参与维持多种细胞类型中的 Ca2+ 稳态。该蛋白质受细胞内钙离子调节,存在于质膜和细胞内细胞器膜中,其中 Na+ 与 Ca2+ 的交换以生电方式发生。已经观察到该基因的选择性剪接,并且已经描述了多个变体。[RefSeq 提供,2013 年 8 月]

This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]

SLC8A3 基因产物(6)

mRNA Protein Name
NM_001130417.3 NP_001123889.1 sodium/calcium exchanger 3 isoform G
NM_033262.5 NP_150287.1 sodium/calcium exchanger 3 isoform A precursor
NM_058240.4 NP_489479.1 sodium/calcium exchanger 3 isoform B precursor
NM_182932.3 NP_891977.1 sodium/calcium exchanger 3 isoform D precursor
NM_182936.3 NP_891981.1 sodium/calcium exchanger 3 isoform F
NM_183002.3 NP_892114.1 sodium/calcium exchanger 3 isoform C precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21959935 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21959935 GOA
located in synapse IDA
IDA: 通过直接分析推断
21382638 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

SLC8A3 蛋白结构

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (89 - 247)

Calx-beta

Calx-beta: Calx-beta domain (390 - 485)

Calx-beta

Calx-beta: Calx-beta domain (519 - 618)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (763 - 915)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 927 a.a.
蛋白主名 其他名称

sodium/calcium exchanger 3

Na(+)/Ca(2+)-exchange protein 3

关联疾病

疾病名称 别名
Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy

SCCD

Corneal Dystrophy, Crystalline, Of Schnyder

Corneal Dystrophy, Schnyder Type

Corneal Dystrophy Crystalline Of Schnyder

Crystalline Stromal Dystrophy

Hereditary Crystalline Stromal Dystrophy Of Schnyder

Scd

Corneal Dystrophy, Schnyder

Schnyder Crystalline Dystrophy Sine Crystals

Dystrophy, Corneal, Crystalline, Schnyder

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
Canis familiaris SLC8A3 VGNC VGNC:46482
Mus musculus SLC8A3 MGD MGI:107976
Felis catus SLC8A3 VGNC VGNC:65430
Bos taurus SLC8A3 VGNC VGNC:34937
Macaca mulatta SLC8A3 VGNC VGNC:77636
Rattus norvegicus SLC8A3 RGD RGD:620197