Platelet-activating factor acetylhydrolase IB subunit alpha or Lisencephaly protein-1 (LIS-1) is an

enzyme An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...

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

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

. The protein plays an important role in regulating the motor protein

dynein Dyneins are a family of cytoskeletal motor proteins (though they are actually protein complexes) that move along microtubules in cells. They convert the chemical energy stored in ATP to mechanical work. Dynein transports various cellular cargo ...

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 are smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a ...

associated with

Miller–Dieker syndrome Miller–Dieker syndrome, also called Miller–Dieker lissencephaly syndrome (MDLS) or chromosome 17p13.3 deletion syndrome, is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects det ...

. ''PAFAH1B1'' encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, a

heterotrimeric thumbnail, 400px, Trimeric form of a TNF-α mutant In biochemistry, a protein trimer is a macromolecular complex formed by three, usually non-covalently bound, macromolecules like proteins or nucleic acids. A protein trimer often occurs from the ...

enzyme that specifically catalyzes the removal of the

acetyl group In organic chemistry, an acetyl group is a functional group denoted by the chemical formula and the structure . It is sometimes represented by the symbol Ac (not to be confused with the element actinium). In IUPAC nomenclature, an acetyl grou ...

at the ''sn''-2 position of

platelet-activating factor Platelet-activating factor, also known as PAF, PAF-acether or AGEPC (acetyl-glyceryl-ether-phosphorylcholine), is a potent phospholipid activator and mediator of many leukocyte functions, platelet aggregation and degranulation, inflammation, and an ...

(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

VLDL receptor 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 Tokuo. Yama ...

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 importa ...

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 advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...

with

DYNC1H1 Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the ''DYNC1H1'' gene. Dynein is a molecular motor protein that is responsible for the transport of numerous cellular cargoes to minus ends of microtubules, which are typ ...

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 ...

NDEL1 Nuclear distribution protein nudE-like 1 is a protein that in humans is encoded by the ''NDEL1'' gene. It plays a significant role in intracellular transport and the process of Cell division, cellular division via regulation of the dynein motor p ...

NDE1 Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the ''NDE1'' gene. Clinical significance Mutations In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, ...

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 Platel ...

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 ...

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 or Lisencephaly pr ...

TUBA1A Tubulin alpha-1A chain is a protein that in humans is encoded by the ''TUBA1A'' gene. Tubulin alpha-1A chain is a type of alpha-tubulin involved in the formation of microtubules, which are structural proteins that play a role in the 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 cell ...

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