2. Gene
  3. PDE1C - phosphodiesterase 1C Gene

PDE1C - phosphodiesterase 1C Gene

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

中文名称：磷酸二酯酶 1C

种属: Homo sapiens

同用名: Hcam3; DFNA74; hCam-3; cam-PDE 1C

基因 ID: 5137 | 基因类型: protein coding

关于 PDE1C

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:31,616,777-32,428,224 (from NCBI)

This gene has 12 transcripts (splice variants), 323 orthologues, 20 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 9.1), brain (RPKM 4.0) and 12 other tissues.

功能概要

该基因编码一种属于 3'5'-环核苷酸磷酸二酯酶家族的酶。该家族的成员催化环核苷酸、环磷酸腺苷和环磷酸鸟苷水解成相应的核苷 5'-磷酸。由该基因编码的酶调节血管平滑肌细胞的增殖和迁移，以及新内膜增生。这种酶还通过调节生长因子受体 (如 PDGF-受体-β) 的稳定性在病理性血管重塑中发挥作用。[RefSeq 提供，2016 年 7 月]

This gene encodes an Enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The Enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This Enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]

PDE1C 基因产物(10)

mRNA Protein Name
NM_001191056.3 NP_001177985.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1
NM_001191057.4 NP_001177986.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2
NM_001191058.4 NP_001177987.2 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3
NM_001191059.4 NP_001177988.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2
NM_001322055.2 NP_001308984.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2
NM_001322056.2 NP_001308985.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1
NM_001322057.2 NP_001308986.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1
NM_001322058.2 NP_001308987.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 4
NM_001322059.2 NP_001308988.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 5
NM_005020.5 NP_005011.1 dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C 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 3',5'-cyclic-AMP phosphodiesterase activity IDA
IDA: 通过直接分析推断
29860631 GOA
enables 3',5'-cyclic-GMP phosphodiesterase activity IDA
IDA: 通过直接分析推断
29860631 GOA
enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity IDA
IDA: 通过直接分析推断
8557689 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

PDE1C 蛋白结构

PDEase_I_N

PDEase_I_N: 3'5'-cyclic nucleotide phosphodiesterase N-terminal (82 - 142)

PDEase_I

PDEase_I: 3'5'-cyclic nucleotide phosphodiesterase (227 - 456)

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

dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C

calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C

3',5'-cyclic-AMP phosphodiesterase

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 74

DFNA74

Deafness, Autosomal Dominant, 74
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Nonsyndromic Deafness 74

Dfna74
Compensatory Emphysema
Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41
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

Clinical Phase
生物活性分子 (3)
目录号 产品名 作用方式
纯度 Phase
HY-12501A ITI-214 Inhibitor 99.19% Phase 2
HY-112831 Osoresnontrine Inhibitor 99.88% Phase 2
HY-12501 ITI-214 free base Inhibitor ≥98.0% Phase 2
Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-101490 PDE1-IN-2 Inhibitor ≥98.0% 否
HY-147946 PDE1-IN-4 Inhibitor / 否
HY-155199 PDE1-IN-5 Inhibitor / 否
HY-RS10212 PDE1C Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-120741 PF-04822163 Inhibitor / 否
HY-U00374 Sch59498 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PDE1C MGD MGI:108413
Rattus norvegicus PDE1C RGD RGD:68332
Canis familiaris PDE1C VGNC VGNC:44350
Bos taurus PDE1C VGNC VGNC:32673
Macaca mulatta PDE1C VGNC VGNC:75911
Felis catus PDE1C VGNC VGNC:68754
Others PDE1C NCBI
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