1. Gene
  2. S100G - S100 calcium binding protein G Gene

S100G - S100 calcium binding protein G Gene

中文名称:S100 钙结合蛋白 G

种属: Homo sapiens

同用名: CABP; CABP1; CALB3; CABP9K

基因 ID: 795 | 基因类型: protein coding

关于 S100G

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:16,650,158-16,654,670 (from NCBI)

This gene has 1 transcript (splice variant), 338 orthologues and 21 paralogues. Restricted expression toward duodenum (RPKM 36.4).

功能概要

该基因编码钙结合蛋白 D9K,一种维生素 D 依赖性钙结合蛋白。这种胞质蛋白属于钙结合蛋白家族,包括钙调蛋白、小清蛋白、肌钙蛋白 C 和 S100 蛋白。在肠道中,该蛋白质依赖于维生素 D,其表达与钙转运活动相关。该蛋白可通过在细胞质中缓冲 Ca2+ 来增加 Ca2+ 的吸收,并增加十二指肠基底外侧膜囊泡中 ATP 依赖性 Ca2+ 的转运。[RefSeq 提供,2008 年 7 月]

This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes Calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008]

S100G 基因产物(1)

mRNA Protein Name
NM_004057.3 NP_004048.1 protein S100-G
基因本体论
  • 分子功能
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
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

S100G 蛋白结构

S_100

S_100: S-100/ICaBP type calcium binding domain (10 - 45)

EF-hand_1

EF-hand_1: EF hand (50 - 76)

  • 0
  • 79 a.a.
蛋白主名 其他名称

protein S100-G

calbindin 3, (vitamin D-dependent calcium-binding protein)

S100G 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
S100G P29377 NSMF Homo sapiens Q6X4W1-2 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Granulomatous Endometritis
Noonan Syndrome 7

NS7

Noonan Syndrome, Type 7

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Vitamin D Hydroxylation-Deficient Rickets, Type 1a

Vitamin D-Dependent Rickets, Type 1a

Vitamin D-Dependent Rickets, Type 1

VDDR1A

25-Hydroxycholecalciferol-1-Hydroxylase Deficiency

1-Alpha-Hydroxylase Deficiency

Vdd1

Pddr1a

Pddr Ia

Vitamin D-Dependent Rickets, Type I

Vitamin D-Dependent Rickets Type 1a

1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective

Vitamin D Dependency, Type 1

Pseudovitamin D-Deficiency Rickets, Type Ia

Rickets Vitamin D-Dependent 1a

1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective

Pddr

Pseudovitamin D Deficiency Rickets

Pseudovitamin D-Deficiency Rickets Type Ia

Vitamin D Dependency Type 1

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

Vitamin D-Dependent Rickets, Type 2a

Hvdrr

Generalized Resistance To 1,25-Dihydroxyvitamin D

Hypocalcemic Vitamin D-Resistant Rickets

VDDR2A

Rickets, Hereditary Vitamin D-Resistant

Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

Pddr Iia

Rickets-Alopecia Syndrome

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

Vitamin D-Dependent Rickets, Type 2

Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

Generalized 1,25-Dihydroxyvitamin D

Pseudovitamin D-Deficiency, Type Iia

Hereditary Vitamin D-Resistant Rickets

Vddr Ii

Vdrr Ii

Vitamin D-Dependent Rickets Type Ii

Vitamin D-Resistant Rickets Type Ii

Rickets Vitamin D-Dependent 2a

Pseudovitamin D-Deficiency Type Iia

Rickets Hereditary Vitamin D-Resistant

Type Iia Rickets

Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

Vitamin D-Dependent Rickets, Type Ii

Familial Hypophosphatemic Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Vitamin D-Dependent Rickets

Vddr

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
Mus musculus S100G MGD MGI:104528
Rattus norvegicus S100G RGD RGD:2253
Canis familiaris S100G VGNC VGNC:49688
Bos taurus S100G VGNC VGNC:34249
Macaca mulatta S100G VGNC VGNC:77016
Others S100G NCBI