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  2. CDK5RAP1 - CDK5 regulatory subunit associated protein 1 Gene

CDK5RAP1 - CDK5 regulatory subunit associated protein 1 Gene

中文名称:CDK5 调节亚基相关蛋白 1

种属: Homo sapiens

同用名: C42; CGI-05; HSPC167; C20orf34

基因 ID: 51654 | 基因类型: protein coding

关于 CDK5RAP1

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:33,358,839-33,401,569 (from NCBI)

This gene has 16 transcripts (splice variants), 144 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 5.1), bone marrow (RPKM 5.0) and 25 other tissues.

功能概要

该基因编码细胞周期蛋白依赖性激酶 5 活性的调节剂。据报道,该蛋白质还可以通过添加甲硫基修饰 RNA,因此可能具有作为 RNA 甲硫基转移酶和细胞周期蛋白依赖性激酶 5 活性抑制剂的双重功能。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2013 年 5 月]

This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

CDK5RAP1 基因产物(6)

mRNA Protein Name
NM_001278167.2 NP_001265096.1 mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform c
NM_001278168.2 NP_001265097.1 mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform d
NM_001278169.1 NP_001265098.1 mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform e
NM_001365728.1 NP_001352657.1 mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform f
NM_016082.4 NP_057166.4 mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform b
NM_016408.4 NP_057492.2 mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform a

CDK5RAP1 蛋白结构

UPF0004

UPF0004: Uncharacterized protein family UPF0004 (101 - 204)

Radical_SAM

Radical_SAM: Radical SAM superfamily (252 - 461)

TRAM

TRAM: TRAM domain (517 - 589)

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  • 601 a.a.
蛋白主名 其他名称

mitochondrial tRNA methylthiotransferase CDK5RAP1

CDK5 activator-binding protein C42

关联疾病

疾病名称 别名
Inflammatory Bowel Disease 24

IBD24

Inflammatory Bowel Disease 17

Inflammatory Bowel Disease 17, Protection Against

IBD17

Bowel Disease, Inflammatory, Type 17

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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 CDK5RAP1 VGNC VGNC:39057
Macaca mulatta CDK5RAP1 VGNC VGNC:70954
Bos taurus CDK5RAP1 VGNC VGNC:27130
Mus musculus CDK5RAP1 MGD MGI:1914221
Rattus norvegicus CDK5RAP1 RGD RGD:708387
Felis catus CDK5RAP1 VGNC VGNC:60702