CD2AP

位於6號人類染色體的基因

CD2相关蛋白质(CD2-associated protein)是在人类中由CD2AP基因所编码的蛋白质[1][2]

CD2相关蛋白质
(CD2-associated protein)
基于2j6f的PDB绘制。
有效结构
PDB 直系同源检索:PDBe, RCSB
标识
代号 CD2AP; CMS
扩展标识 遗传学604241 鼠基因1330281 同源基因7663 GeneCards: CD2AP Gene
直系同源体
物种 人类 小鼠
Entrez 23607 12488
Ensembl ENSG00000198087 ENSMUSG00000061665
UniProt Q9Y5K6 Q9JLQ0
mRNA序列 NM_012120 NM_009847
蛋白序列 NP_036252 NP_033977
基因位置 Chr 6:
47.45 – 47.59 Mb
Chr 17:
42.79 – 42.88 Mb
PubMed查询 [1] [2]

该基因编码一种调节肌动蛋白细胞骨架的"支架分子"(在神经元通路中的广大连结区域聚积的蛋白分子)。该蛋白质直接与丝状肌动蛋白、及通过多种肌动蛋白结合位点的各种细胞膜的蛋白质、SH3结构域(SH3 domain),以及含有SH3结构域结合位点之"富含脯氨酸区域"(proline-rich region)等交互作用。胞质蛋白定位于膜皱褶(Membrane ruffling),脂筏(Lipid raft)和细胞的前缘。它牵涉到在受体的内吞作用和"胞质分裂"(cytokinesis)发生动态肌动蛋白重塑(actin remodeling)和膜交换。该基因的"单倍剂量不足"(Haploinsufficiency)牵涉到易感性的肾小球疾病。[2]

交互作用

CD2AP已显示出与NPHS2[3]肾病蛋白[4] CBL基因(CBL (gene)),[5][6][7]RAB4A[7]等有蛋白质交互作用

参见

注释

  1. ^ Kirsch KH, Georgescu MM, Ishimaru S, Hanafusa H. CMS: An adapter molecule involved in cytoskeletal rearrangements. Proc Natl Acad Sci USA. Jun 1999, 96 (11): 6211–6. PMC 26861 . PMID 10339567. doi:10.1073/pnas.96.11.6211. 
  2. ^ 2.0 2.1 Entrez Gene: CD2AP CD2-associated protein. (原始内容存档于2010-03-08). 
  3. ^ Schwarz, K; Simons M; Reiser J; Saleem M A; Faul C; Kriz W; Shaw A S; Holzman L B; Mundel P. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. (United States). Dec 2001, 108 (11): 1621–9. ISSN 0021-9738. PMC 200981 . PMID 11733557. doi:10.1172/JCI12849. 
  4. ^ Lehtonen, Sanna; Lehtonen Eero; Kudlicka Krystyna; Holthöfer Harry; Farquhar Marilyn G. Nephrin Forms a Complex with Adherens Junction Proteins and CASK in Podocytes and in Madin-Darby Canine Kidney Cells Expressing Nephrin. Am. J. Pathol. (United States). Sep 2004, 165 (3): 923–36. ISSN 0002-9440. PMC 1618613 . PMID 15331416. doi:10.1016/S0002-9440(10)63354-8. 
  5. ^ Haglund, Kaisa; Ivankovic-Dikic Inga; Shimokawa Noriaki; Kruh Gary D; Dikic Ivan. Recruitment of Pyk2 and Cbl to lipid rafts mediates signals important for actin reorganization in growing neurites. J. Cell. Sci. (England). May 2004, 117 (Pt 12): 2557–68. ISSN 0021-9533. PMID 15128873. doi:10.1242/jcs.01148. 
  6. ^ Kirsch, K H; Georgescu M M; Shishido T; Langdon W Y; Birge R B; Hanafusa H. The adapter type protein CMS/CD2AP binds to the proto-oncogenic protein c-Cbl through a tyrosine phosphorylation-regulated Src homology 3 domain interaction. J. Biol. Chem. (United States). Feb 2001, 276 (7): 4957–63. ISSN 0021-9258. PMID 11067845. doi:10.1074/jbc.M005784200. 
  7. ^ 7.0 7.1 Cormont, Mireille; Metón Isidoro; Mari Muriel; Monzo Pascale; Keslair Frédérique; Gaskin Chantell; McGraw Timothy E; Le Marchand-Brustel Yannick. CD2AP/CMS regulates endosome morphology and traffic to the degradative pathway through its interaction with Rab4 and c-Cbl. Traffic (Denmark). Feb 2003, 4 (2): 97–112. ISSN 1398-9219. PMID 12559036. doi:10.1034/j.1600-0854.2003.40205.x. 

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