1. Gene
  2. PCP4 - Purkinje cell protein 4 Gene

PCP4 - Purkinje cell protein 4 Gene

中文名称:浦肯野细胞蛋白 4

种属: Homo sapiens

同用名: PEP-19

基因 ID: 5121 | 基因类型: protein coding

关于 PCP4

Cytogenetic location: 21q22.2 Genomic coordinates (GRCh38): 21:39,867,438-39,929,392 (from NCBI)

This gene has 4 transcripts (splice variants), 166 orthologues and 1 paralogue. Biased expression in prostate (RPKM 108.8), urinary bladder (RPKM 73.3) and 6 other tissues.

功能概要

启用钙离子结合活性和钙调蛋白结合活性。参与钙调蛋白依赖性激酶信号通路和神经元分化的正调控。位于细胞质和细胞核中。部分含蛋白质复合物。亨廷顿病和平滑肌瘤的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables calcium ion binding activity and Calmodulin binding activity. Involved in Calmodulin dependent kinase signaling pathway and positive regulation of neuron differentiation. Located in cytosol and nucleus. Part of protein-containing complex. Biomarker of Huntington's disease and leiomyoma. [provided by Alliance of Genome Resources, Apr 2022]

PCP4 基因产物(1)

mRNA Protein Name
NM_006198.3 NP_006189.2 calmodulin regulator protein PCP4
蛋白主名 其他名称

calmodulin regulator protein PCP4

brain specific polypeptide PEP19

PCP4 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
PCP4 P48539 CALML6 Homo sapiens Q8TD86
Y2H Prey Pooling
32296183
种属内
PCP4 P48539 CALML6 Homo sapiens Q8TD86
Validated Y2H
32296183
种属内
PCP4 P48539 CALML6 Homo sapiens Q8TD86
Y2H Array
32296183
种属内
PCP4 P48539 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
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
Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Autoimmune Atherosclerosis
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Macaca mulatta PCP4 VGNC VGNC:84749
Felis catus PCP4 VGNC VGNC:102802
Mus musculus PCP4 MGD MGI:97509
Rattus norvegicus PCP4 RGD RGD:3271
Canis familiaris PCP4 VGNC VGNC:44319
Bos taurus PCP4 VGNC VGNC:106858