2. Gene
  3. CNNM1 - cyclin and CBS domain divalent metal cation transport mediator 1 Gene

CNNM1 - cyclin and CBS domain divalent metal cation transport mediator 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞周期蛋白和 CBS 结构域二价金属阳离子转运介质 1

种属: Homo sapiens

同用名: ACDP1; CLP-1

基因 ID: 26507 | 基因类型: protein coding

关于 CNNM1

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,329,356-99,394,330 (from NCBI)

This gene has 3 transcripts (splice variants), 262 orthologues and 3 paralogues. Biased expression in testis (RPKM 7.0), brain (RPKM 4.2) and 7 other tissues.

功能概要

该基因编码古老的保守结构域蛋白家族的一个成员。编码的蛋白质可以结合铜。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 9 月]

This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

CNNM1 基因产物(4)

mRNA Protein Name
NM_001345887.2 NP_001332816.1 metal transporter CNNM1 isoform 2
NM_001345888.2 NP_001332817.1 metal transporter CNNM1 isoform 3
NM_001345889.2 NP_001332818.1 metal transporter CNNM1 isoform 4
NM_020348.3 NP_065081.2 metal transporter CNNM1 isoform 1
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
27880917 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

CNNM1 蛋白结构

DUF21

DUF21: Domain of unknown function DUF21 (226 - 405)

CBS

CBS: CBS domain (500 - 560)

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

metal transporter CNNM1

ancient conserved domain-containing protein 1

CNNM1 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
Intra CNNM1 Q9NRU3 PTP4A2 Homo sapiens Q12974
Y2H Prey Pooling
32296183
Intra CNNM1 Q9NRU3 PTP4A2 Homo sapiens Q12974
Y2H Array
32296183
Intra CNNM1 Q9NRU3 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra CNNM1 Q9NRU3 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
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
Jalili Syndrome

Cone-Rod Dystrophy And Amelogenesis Imperfecta

Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome

Cone-Rod Dystrophy Amelogenesis Imperfecta

Cone-Rod Dystrophy With Amelogenesis Imperfecta

JALIS

Cone Rod Dystrophy Amelogenesis Imperfecta
Urofacial Syndrome 1

Urofacial Syndrome

Ochoa Syndrome

Hydronephrosis With Peculiar Facial Expression

Ufs

Inverted Smile And Occult Neuropathic Bladder

Partial Facial Palsy With Urinary Abnormalities

UFS1

Urofacial Ochoa'S Syndrome

Urofacial Syndrome Type 1

Facial Palsy, Partial, With Urinary Abnormalities

Hydronephrosis-Inverted Smile

Inverted Smile-Neurogenic Bladder

Hydronephrosis-Inverted Smile Syndrome

Inverted Smile-Neurogenic Bladder Syndrome

Partial Facial Palsy Partial With Urinary Abnormalities

Urologic Diseases
Primary Hypomagnesemia

Familial Primary Hypomagnesemia

Homg

Primary Familial Hypomagnesemia

Genetic Primary Hypomagnesemia

Hypomagnesemia 1, Intestinal
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02895 CNNM1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CNNM1 MGD MGI:1891366
Macaca mulatta CNNM1 VGNC VGNC:103799
Felis catus CNNM1 VGNC VGNC:61023
Rattus norvegicus CNNM1 RGD RGD:1308728
Bos taurus CNNM1 VGNC VGNC:27510
Canis familiaris CNNM1 VGNC VGNC:39406
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