Platelet-activating factor acetylhydrolase IB subunit alpha is an

enzyme Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...

that in humans is encoded by the ''PAFAH1B1''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

. The protein is often referred to as Lis1 and plays an important role in regulating the motor protein

Dynein Dyneins are a family of cytoskeletal motor proteins that move along microtubules in cells. They convert the chemical energy stored in ATP to mechanical work. Dynein transports various cellular cargos, provides forces and displacements importa ...

Function

PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the

lissencephaly Lissencephaly (, meaning "smooth brain") is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in ...

associated with

Miller–Dieker syndrome Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in a ...

. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of

platelet-activating factor acetylhydrolase The enzyme 1-alkyl-2-acetylglycerophosphocholine esterase (EC 3.1.1.47) catalyzes the reaction :1-alkyl-2-acetyl-''sn''-glycero-3-phosphocholine + H2O \rightleftharpoons 1-alkyl-''sn''-glycero-3-phosphocholine + acetate The former is also know ...

, a

heterotrimeric In biochemistry, a protein trimer is a macromolecular Complex (chemistry), complex formed by three, usually covalent bond, non-covalently bound, macromolecules like proteins or nucleic acids. A homotrimer would be formed by three identical molecul ...

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. According to one study, PAFAH1B1 interacts with

VLDLR The very-low-density-lipoprotein receptor (VLDLR) is a transmembrane lipoprotein receptor of the low-density-lipoprotein (LDL) receptor family. VLDLR shows considerable homology with the members of this lineage. Discovered in 1992 by T. Yamamoto, ...

receptor activated by

reelin Reelin, encoded by the ''RELN'' gene, is a large secreted extracellular matrix glycoprotein that helps regulate processes of neuronal migration and positioning in the developing brain by controlling cell–cell interactions. Besides this import ...

Genomics

The gene is located at chromosome 17p13.3 on the Watson (plus) strand. The gene is 91,953 bases in length and encodes a protein of 410 amino acids (predicted molecular weight 46.638 kiloDaltons).

Interactions

PAFAH1B1 has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...

with

DYNC1H1 Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the ''DYNC1H1'' gene. Interactions DYNC1H1 has been shown to Protein-protein interaction, interact with PAFAH1B1 and CDC5L. Clinical relevance Mutations in this gene ha ...

CLIP1 CAP-GLY domain containing linker protein 1, also known as CLIP1, is a protein which in humans is encoded by the ''CLIP1'' gene. Interactions CLIP1 has been shown to interact with IQGAP1, Mammalian target of rapamycin and PAFAH1B1 Platelet-a ...

NDEL1 Nuclear distribution protein nudE-like 1 is a protein that in humans is encoded by the ''NDEL1'' gene. This gene encodes a thiol-activated oligopeptidase that is phosphorylated in M phase of the cell cycle. Phosphorylation regulates the cell cyc ...

NDE1 Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the ''NDE1'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ...

PAFAH1B3 Platelet-activating factor acetylhydrolase IB subunit gamma is an enzyme that in humans is encoded by the ''PAFAH1B3'' gene. Interactions PAFAH1B3 has been shown to interact with PAFAH1B1 and LNX1. See also * PAFAH1B1 * PAFAH1B2 Platelet- ...

PAFAH1B2 Platelet-activating factor acetylhydrolase IB subunit beta is an enzyme that in humans is encoded by the ''PAFAH1B2'' gene. Interactions PAFAH1B2 has been shown to interact with PAFAH1B1. See also * PAFAH1B1 Platelet-activating factor acet ...

NUDC Nuclear migration protein nudC is a protein that in humans is encoded by the ''NUDC'' gene. Interactions NUDC has been shown to interact with PLK1 and PAFAH1B1 Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in ...

TUBA1A Tubulin alpha-1A chain is a protein that in humans is encoded by the ''TUBA1A'' gene. Background Tubulin alpha-1A chain is an alpha-tubulin that participates in the formation of microtubules - structural proteins that participate in cytoskeletal ...

and

Doublecortin Neuronal migration protein doublecortin, also known as doublin or lissencephalin-X is a protein that in humans is encoded by the DCX gene. Function Doublecortin (DCX) is a microtubule-associated protein expressed by neuronal precursor cells an ...

References

External links

GeneReview/NIH/UW entry on LIS1-Associated Lissencephaly/Subcortical Band Heterotopia
{{PAF signaling

Function

Genomics

Interactions

See also

References

Further reading

External links