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CD2AP

位於6號人類染色體的基因

CD2相關蛋白質(CD2-associated protein)是在人類中由CD2AP基因所編碼的蛋白質[1][2]

CD2相關蛋白質
(CD2-associated protein)
基於2j6f的PDB繪製。
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]

該基因編碼一種調節肌動蛋白細胞骨架的"支架分子"(在神經元通路中的廣大連結區域聚積的蛋白分子)。該蛋白質直接與絲狀肌動蛋白、及通過多種肌動蛋白結合位點的各種細胞膜的蛋白質、SH3結構域(SH3 domain),以及含有SH3結構域結合位點之"富含脯氨酸區域"(proline-rich region)等交互作用。胞質蛋白定位於膜皺褶(Membrane ruffling),脂筏(Lipid raft)和細胞的前緣。它牽涉到在受體的內吞作用和"胞質分裂"(cytokinesis)發生動態肌動蛋白重塑(actin remodeling)和膜交換。該基因的"單倍劑量不足"(Haploinsufficiency)牽涉到易感性的腎小球疾病。[2]

目录

交互作用编辑

CD2AP已顯示出與NPHS2[3]腎病蛋白[4] CBL基因(CBL (gene)),[5][6][7]RAB4A[7]等有蛋白質交互作用

參見编辑

註釋编辑

  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. 
  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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