2. Gene
  3. CCDC88A - coiled-coil domain containing 88A Gene

CCDC88A - coiled-coil domain containing 88A Gene

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

中文名称：含卷曲螺旋结构域 88A

种属: Homo sapiens

同用名: APE; GIV; GRDN; PEHO; HkRP1; PEHOL; GIRDIN; KIAA1212

基因 ID: 55704 | 基因类型: protein coding

关于 CCDC88A

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:55,287,842-55,419,856 (from NCBI)

This gene has 67 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 20.8), brain (RPKM 15.3) and 23 other tissues.

功能概要

该基因编码 Girdin 家族的一个成员，该家族包含卷曲螺旋结构域的蛋白质。编码的蛋白质是一种肌动蛋白结合蛋白，由丝氨酸/苏氨酸激酶 Akt 激活，并在细胞骨架重塑和细胞迁移中发挥作用。编码的蛋白质还通过生长因子受体酪氨酸激酶和 G 蛋白偶联受体介导磷酸肌醇 3 激酶 (PI3K) 依赖性 Akt 激活来增强 Akt 信号传导。该基因表达的增加和编码蛋白的磷酸化可能在癌症转移中发挥作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in Cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor Receptor Tyrosine Kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in Cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

CCDC88A 基因产物(4)

mRNA Protein Name
NM_001135597.2 NP_001129069.1 girdin isoform 1
NM_001254943.2 NP_001241872.1 girdin isoform 3
NM_001365480.1 NP_001352409.1 girdin isoform 4
NM_018084.5 NP_060554.3 girdin isoform 2
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 G-protein alpha-subunit binding IPI
IPI: 通过物理相互作用推断
19211784 GOA
enables GDP-dissociation inhibitor activity IDA
IDA: 通过直接分析推断
27621449 GOA
enables SH2 domain binding IPI
IPI: 通过物理相互作用推断
21954290 GOA
enables actin binding IDA
IDA: 通过直接分析推断
16139227 GOA
enables epidermal growth factor receptor binding IPI
IPI: 通过物理相互作用推断
20462955 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
19211784 GOA
enables insulin receptor binding IPI
IPI: 通过物理相互作用推断
25187647 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
16139227 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
16139227 GOA
enables protein kinase B binding IPI
IPI: 通过物理相互作用推断
16139227 GOA
enables protein kinase C binding IPI
IPI: 通过物理相互作用推断
23509302 GOA
enables vascular endothelial growth factor receptor 2 binding IPI
IPI: 通过物理相互作用推断
25187647 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of protein kinase activity IDA
IDA: 通过直接分析推断
21954290 GOA
involved in cell migration IMP
IMP: 通过突变表型推断
16139227 GOA
involved in lamellipodium assembly IMP
IMP: 通过突变表型推断
16139227 GOA
involved in maintenance of protein location in plasma membrane IDA
IDA: 通过直接分析推断
20462955 GOA
involved in membrane organization IDA
IDA: 通过直接分析推断
15882442 GOA
involved in positive regulation of cilium assembly IMP
IMP: 通过突变表型推断
27623382 GOA
involved in positive regulation of epidermal growth factor receptor signaling pathway IDA
IDA: 通过直接分析推断
20462955 GOA
involved in positive regulation of protein localization to cilium IMP
IMP: 通过突变表型推断
27623382 GOA
involved in positive regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
16139227 GOA
involved in regulation of actin cytoskeleton organization IMP
IMP: 通过突变表型推断
16139227 GOA
involved in small GTPase-mediated signal transduction IDA
IDA: 通过直接分析推断
19211784 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
15882442 GOA
located in centriole IDA
IDA: 通过直接分析推断
27623382 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
27623382 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
15882442 GOA
located in cytosol IDA
IDA: 通过直接分析推断
15749703 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15882442 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
16139227 GOA
located in membrane IDA
IDA: 通过直接分析推断
15749703 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15882442 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

CCDC88A 蛋白结构

HOOK

HOOK: HOOK protein (15 - 567)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1871 a.a.
蛋白主名 其他名称

girdin

AKT-phosphorylation enhancer

关联疾病

疾病名称 别名
Peho-Like Syndrome

Peho Syndrome-Like

PEHOL

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome
Bilateral Polymicrogyria
Hemangioma Of Lung

Pulmonary Hemangioma
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome
Gliofibroma
Polymicrogyria

Pmg
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02061 CCDC88A Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21994 Ccdc88a Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CCDC88A VGNC VGNC:26927
Canis familiaris CCDC88A VGNC VGNC:38867
Rattus norvegicus CCDC88A RGD RGD:1306694
Mus musculus CCDC88A MGD MGI:1925177
Felis catus CCDC88A VGNC VGNC:80058
Macaca mulatta CCDC88A VGNC VGNC:70860
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