PAFAH1B1

Official Full Name

platelet activating factor acetylhydrolase 1b regulatory subunit 1

Organism

Homo sapiens

GeneID

5048

Background

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

Synonyms

MDS; LIS1; LIS2; MDCR; NudF; PAFAH;

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Detailed Information

Recent Research Progress

Platelet-activating factor acetylhydrolase 1b regulatory subunit 1 (PAFAH1B1), formerly known as Lissencephaly 1 (LIS1), a calculated molecular mass of 45 kDa，was first identified to be responsible for type I lissencephaly, a severe neuronal developmental disease. According to previous array-comparative genomic hybridization studies, PAFAH1B1 is a potential oncogene in lung cancer. PAFAH1B1 regulates cell migration and invasiveness in various lung cancer cell lines (A549, H1299 and CL1-5) via disrupting the microtubule network and the pericellular poly-fibronectin assembly. In vivo, BALB/c nude mice were intravenously injected the cell (A549 cells) which were transfected with si-PAFAH1B1 or si-control via tail vein, the mice with knockdown PAFAH1B1 reduces tumor metastasis to lungs, indicating that overexpressed PAFAH1B1 promotes cell migration and metastasis in lung tumorigenesis. The frequencies of overexpressed PAFAH1B1 mRNA and protein were 62.4% and 57.4% in lung cancer patients, respectively. The clinical correlation results showed that overexpression of PAFAH1B1 was significantly associated with poor survival in lung adenocarcinoma and male patients.

The level of PAFAH1B1 has been reported to be down-regulated in human hepatocellular carcinoma. Knocking out (KO) Pafah1b1 upregulates lipid accumulation and inflammation in the mouse liver. Previous studies have shown that knockdown of Pafah1b1 triggers endoplasmic reticulum (ER) stress and reduces triglyceride secretion. It was reported that Lis1KO mice had reduced VLDL–TG secretion and aberrant glucose metabolism, which also contribute to the development of fatty liver. Analysis of RNA-Seq data identified that knocking out Pafah1b1 induces hepatic inflammation. The effects of KO Pafah1b1 on mouse model is related to genomic instability, Golgi stacks and tumorigenesis in the liver.

As the member of the non-catalytic subunit of the cytoplasmic platelet activating factor (PAF), PAFAH1B1 regulating concentrations of PAF in the brain and male reproductive system. As the closely interactions with the minus end-directed molecular motor dynein, PAFAH1B1 regulating many fundamental cellular processes (mitosis, intracellular motility, microtubule assembly). Additionally, PAFAH1B1 play an important role in in human spermatogenesis, fertilization and subsequent early embryonic development.

Figure 1. PAFAH1B1 protein (predicted Mus musculus)

References:

Xiaoling Li, Liansheng Liu, Ran Li, Ailing Wu, Jinqiu Lu, Qingzhe Wu, Junling Jia, Mujun Zhao and Hai Song. (2018) 'Hepatic loss of Lissencephaly 1 (Lis1) induces fatty liver and accelerates liver tumorigenesis in mice', J. Biol. Chem, 293(14), 5160–5171.
Gui-Dong Yao, Sen-Lin Shi, Wen-Yan Song, Hai-Xia Jin, Zhao-Feng Peng, Hong-Yi Yang, En-Yin Wang and Ying-Pu Sun. (2015) 'Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development', Reproductive BioMedicine, 31, 613–624.
Satoru Takahashi, Ryosuke Tanaka, Satomi Okano, Akie Okayama, Nao Suzuki and Hiroshi Azuma. (2015) 'Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence', Molecular Cytogenetics, 8:84.

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