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- Table of Contents
Facts about Platelet-activating factor acetylhydrolase IB subunit alpha.
Positively regulates the activity of this minus-end directed microtubule motor protein dynein. May improve dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end.
Human | |
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Gene Name: | PAFAH1B1 |
Uniprot: | P43034 |
Entrez: | 5048 |
Belongs to: |
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WD repeat LIS1/nudF family |
LIS-1; LIS1PAF-AH alpha; LIS2; lissencephaly 1 protein; Lissencephaly-1 protein; MDCR; MDS; Miller-Dieker syndrome chromosome region; PAF acetylhydrolase 45 kDa subunit; PAF-AH 45 kDa subunit; PAFAH alpha; PAFAH; PAFAHA; platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa); platelet-activating factor acetylhydrolase IB subunit alpha; platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD); platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa; platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
Mass (kDA):
46.638 kDA
Human | |
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Location: | 17p13.3 |
Sequence: | 17; NC_000017.11 (2593210..2685617) |
Fairly ubiquitous expression in both the frontal and occipital areas of the brain.
Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus membrane. Redistributes to axons during neuronal development. Also localizes to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes (By similarity). Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane.
PMID: 8355785 by Reiner O., et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
PMID: 9063735 by Lo Nigro C., et al. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.