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Details on Person UniProt:P43034 PAFAH1B1

Class:Id	ReferenceGeneProduct:58597
_chainChangeLog	chain:1-410 added on Fri February 6 2015
_displayName	UniProt:P43034 PAFAH1B1
_timestamp	2024-11-03 20:01:39
chain	chain:1-410
checksum	3AB68D2641BA31C9
comment	FUNCTION Regulatory subunit (beta subunit) of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)), an enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and participates in PAF inactivation. Regulates the PAF-AH (I) activity in a catalytic dimer composition-dependent manner (By similarity). Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769). May modulate the Reelin pathway through interaction of the PAF-AH (I) catalytic dimer with VLDLR (By similarity).SUBUNIT Component of the cytosolic PAF-AH (I) heterotetrameric enzyme, which is composed of PAFAH1B1 (beta), PAFAH1B2 (alpha2) and PAFAH1B3 (alpha1) subunits. The catalytic activity of the enzyme resides in the alpha1 (PAFAH1B3) and alpha2 (PAFAH1B2) subunits, whereas the beta subunit (PAFAH1B1) has regulatory activity. Trimer formation is not essential for the catalytic activity. Interacts with the catalytic dimer of PAF-AH (I) heterotetrameric enzyme: interacts with PAFAH1B2 homodimer (alpha2/alpha2 homodimer), PAFAH1B3 homodimer (alpha1/alpha1 homodimer) and PAFAH1B2-PAFAH1B3 heterodimer (alpha2/alpha1 heterodimer) (By similarity). Interacts with IQGAP1, KATNB1 and NUDC. Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate. Interacts with DCX, dynein, dynactin, NDE1, NDEL1 and RSN. Interacts with DISC1, and this interaction is enhanced by NDEL1. Interacts with INTS13. Interacts with DCDC1 (PubMed:22159412).INTERACTION 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.ALTERNATIVE PRODUCTS Fairly ubiquitous expression in both the frontal and occipital areas of the brain.DOMAIN Dimerization mediated by the LisH domain may be required to activate dynein.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Originally the subunits of the type I platelet-activating factor (PAF) acetylhydrolase was named alpha (PAFAH1B1), beta (PAFAH1B2) and gamma (PAFAH1B3) (By similarity) (Ref.4). Now these subunits have been renamed beta (PAFAH1B1), alpha2 (PAFAH1B2) and alpha1 (PAFAH1B3) respectively (By similarity).SIMILARITY Belongs to the WD repeat LIS1/nudF family.SEQUENCE CAUTION Chimeric cDNA.
description	recommendedName: fullName evidence="7 26"Platelet-activating factor acetylhydrolase IB subunit beta alternativeName: fullName evidence="7"Lissencephaly-1 protein shortName evidence="7"LIS-1 alternativeName: fullName evidence="7"PAF acetylhydrolase 45 kDa subunit shortName evidence="7"PAF-AH 45 kDa subunit alternativeName: fullName evidence="7"PAF-AH alpha shortName evidence="7"PAFAH alpha
geneName	PAFAH1B1 LIS1 MDCR MDS PAFAHA
identifier	P43034
isSequenceChanged	FALSE
keyword	3D-structure Acetylation Alternative splicing Cell cycle Cell division Coiled coil Cytoplasm Cytoskeleton Developmental protein Differentiation Disease variant Lipid degradation Lipid metabolism Lissencephaly Membrane Microtubule Mitosis Neurogenesis Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Transport WD repeat
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	PAFAH1B1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8994314] ENSEMBL:ENSG00000007168 PAFAH1B1 [Homo sapiens]
secondaryIdentifier	LIS1_HUMAN B2R7Q7 Q8WZ88 Q8WZ89
sequenceLength	410
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:235204] UniProt:P43034-2 PAFAH1B1 [Homo sapiens] [ReferenceIsoform:404048] UniProt:P43034-1 PAFAH1B1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:376249] PAFAH1B1 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:P43034 PAFAH1B1 (58597)