2. Gene
  3. CLCC1 - chloride channel CLIC like 1 Gene

CLCC1 - chloride channel CLIC like 1 Gene

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

中文名称：氯离子通道 CLIC 样 1

种属: Homo sapiens

同用名: MCLC; RP32

基因 ID: 23155 | 基因类型: protein coding

关于 CLCC1

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:108,929,505-108,963,484 (from NCBI)

This gene has 88 transcripts (splice variants), 119 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 9.3), thyroid (RPKM 9.3) and 25 other tissues.

功能概要

预测启用氯离子通道活性。预计参与氯化物运输。位于内质网和线粒体相关的内质网膜上。涉及视网膜色素变性 32。[由基因组资源联盟提供，2022 年 4 月]

Predicted to enable Chloride Channel activity. Predicted to be involved in chloride transport. Located in endoplasmic reticulum and mitochondria-associated endoplasmic reticulum membrane. Implicated in retinitis pigmentosa 32. [provided by Alliance of Genome Resources, Apr 2022]

CLCC1 基因产物(17)

mRNA Protein Name
NM_001048210.3 NP_001041675.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001278202.2 NP_001265131.1 chloride channel CLIC-like protein 1 isoform 3 precursor
NM_001278203.1 NP_001265132.1 chloride channel CLIC-like protein 1 isoform 4 precursor
NM_001377458.1 NP_001364387.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377459.1 NP_001364388.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377460.1 NP_001364389.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377461.1 NP_001364390.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377462.1 NP_001364391.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377463.1 NP_001364392.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377464.1 NP_001364393.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377465.1 NP_001364394.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377466.1 NP_001364395.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377467.1 NP_001364396.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377468.1 NP_001364397.1 chloride channel CLIC-like protein 1 isoform 1 precursor
NM_001377469.1 NP_001364398.1 chloride channel CLIC-like protein 1 isoform 5 precursor
NM_001377470.1 NP_001364399.1 chloride channel CLIC-like protein 1 isoform 6
NM_015127.5 NP_055942.1 chloride channel CLIC-like protein 1 isoform 2 precursor
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 chloride channel activity IDA
IDA: 通过直接分析推断
37142673 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
31653868 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endoplasmic reticulum calcium ion homeostasis IMP
IMP: 通过突变表型推断
37142673 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
37142673 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: 通过直接分析推断
31653868 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

CLCC1 蛋白结构

MCLC

MCLC: Mid-1-related chloride channel (MCLC) (3 - 551)

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  • 551 a.a.
蛋白主名 其他名称

chloride channel CLIC-like protein 1

Mid-1-related chloride channel protein 1

关联疾病

疾病名称 别名
Retinitis Pigmentosa 32

RP32

Retinitis Pigmentosa-32
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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-RS02751 CLCC1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CLCC1 VGNC VGNC:39299
Rattus norvegicus CLCC1 RGD RGD:708359
Bos taurus CLCC1 VGNC VGNC:27394
Felis catus CLCC1 VGNC VGNC:60921
Mus musculus CLCC1 MGD MGI:2385186
Macaca mulatta CLCC1 VGNC VGNC:71373
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