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0LIS1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NamePAFAH1B1
DescriptionPlatelet-activating factor acetylhydrolase ib alpha subunit (paf acetylhydrolase 45 kda subunit) (paf-ah 45 kda subunit) (paf-ah alpha) (pafah alpha) (lissencephaly-1 protein) (lis-1).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0000235 astral microtubule (IDA)
0005938 cell cortex (IDA)
0000776 kinetochore (IDA)
0005875 microtubule associated complex (IDA)
0005635 nuclear membrane (IDA)
0045502 dynein binding (IDA)
0006928 cell motility (TAS)
0000132 establishment of mitotic spindle orientation (IMP)
0006629 lipid metabolism (TAS)
0007017 microtubule-based process (IDA)
0007399 neurogenesis (TAS)
0007165 signal transduction (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The LisH (lis homology) domain mediates protein dimerisation and tetramerisation. The LisH domain is found in Sif2. component of the Set3 complex which is responsible for repressing meiotic genes. It has been shown that the LisH domain helps mediate interaction with components of the Set3 complex .
  IPR013720:LisH
A sequence motif.isH.as been identified in the products of genes mutated in Miller-Dieker lissencephaly.reacher Collins.ral-facial-digital type 1 and contiguous syndrome ocular albinism with late onset sensorineural deafness syndromes. An additional homologous motif was detected in a gene product fused to the fibroblast growth factor receptor type 1 in patients with an atypical stem cell myeloproliferative disorder. In total.ver 100 eukaryotic intracellular proteins are shown to possess a LIS1 homology (LisH) motif.ncluding several katanin p60 subunits.uskelin.onneau.EUNIG.opp140.imless and numerous WD repeat-containing beta-propeller proteins . It is suggested that LisH motifs contribute to the regulation of microtubule dynamics.ither by mediating dimerization.r else by binding cytoplasmic dynein heavy chain or microtubules directly. The predicted secondary structure of LisH motifs.nd their occurrence in homologues of Gbeta beta-propeller subunits.uggests that they are analogues of Ggamma subunits.nd might associate with the periphery of beta-propeller domains.
  IPR006594:Lissencephaly type-1-like homology motif
WD-40 repeats (also known as WD or beta-transducin repeats) are short ~40 amino acid motifs.ften terminating in a Trp-Asp (W-D) dipeptide. WD-containing proteins have 4 to 16 repeating units.ll of which are thought to form a circularised beta-propeller structure. WD-repeat proteins are a large family found in all eukaryotes and are implicated in a variety of functions ranging from signal transduction and transcription regulation to cell cycle control and apoptosis. The underlying common function of all WD-repeat proteins is coordinating multi-protein complex assemblies.here the repeating units serve as a rigid scaffold for protein interactions. The specificity of the proteins is determined by the sequences outside the repeats themselves. Examples of such complexes are G proteins (beta subunit is a beta-propeller).AFII transcription factor.nd E3 ubiquitin ligase .
  IPR001680:WD-40 repeat
The WD40 motif is found in a multitude of eukaryotic proteins involved in a variety of cellular processes . Repeated WD40 motifs act as a site for protein-protein interaction.nd proteins containing WD40 repeats are known to serve as platforms for the assembly of protein complexes or mediators of transient interplay among other proteins. In Arabidopsis sp..everal WD40-containig proteins act as key regulators of plant-specific developmental events. WD40 repeats usually assume a 7-8 bladed beta-propeller fold.ut proteins have been found with 4 to 16 repeated units.The structures of several WD40 repeat-containing proteins have been determined.ncluding the beta-1 subunit of the signal-transducing G protein heterotrimer.he C-terminal domain of yeast Tup1.he C-terminal domain of Groucho/tle1.he Cdc4 propeller domain.he bovine Arp2/3 complex 41 kDa subunit ARPC1.nd actin interacting protein 1. The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR011046:WD40-like
IPR001680:WD40 
Evalue:-14.8860569000244 
Location:265-323IPR001680:WD40 
Evalue:-11.4685211181641 
Location:139-177IPR001680:WD40 
Evalue:-11.4202165603638 
Location:181-219IPR001680:WD40 
Evalue:-10.9208183288574 
Location:369-407IPR001680:WD40 
Evalue:-10.4814863204956 
Location:327-365IPR013720:LisH 
Evalue:-8.92081832885742 
Location:8-34IPR001680:WD40 
Evalue:-8.49485015869141 
Location:223-261IPR001680:WD40 
Evalue:-7.06550168991089 
Location:97-135
SequencesProtein: LIS1_HUMAN (409 aa)
mRNA: NM_000430
Local Annotation
Synapse Ontology
microtubules of the presynaptic compartment function as the tracks for the intense traffic of organelles from cell body to axon terminals and vice versa. It is generally excluded from the presynaptic vesicle cluster.Microtubules do not directly regulate synapse morphology or function
sdb:0087 microtubules  (Evidence:keywords)
KO assignmentK01062
  Level 3 annotation:
    1-alkyl-2-acetylglycerophosphocholine esterase
  Level 2 annotation:
    Glycerophospholipid metabolism
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 122 residues, 2443685-2444050Exon2: 76 residues, 2488142-2488364Exon3: 30 residues, 2515415-2515500Exon4: 27 residues, 2516059-2516134Exon5: 71 residues, 2517035-2517242Exon6: 58 residues, 2520206-2520375Exon7: 36 residues, 2522698-2522801Exon8: 78 residues, 2524103-2524332Exon9: 36 residues, 2526548-2526650Exon10: 54 residues, 2530207-2530364Exon11: 1290 residues, 2531772-2535638Exon12: 2 residues, -Jump to LIS1_HUMAN  
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Loci Cluster (Details)Loci: 4249 2912712-2913651 ~-1K 14853(OR1D5)(-)Loci: 4250 2976653-2977595 ~-1K 14854(OR1G1)(-)Loci: 4251 3127934-3129018 ~-1K 14856(OR3A2)(-)Loci: 2967 3270617-3271577 ~-1K 14858(OR3A3)(+)Loci: 2968 3486764-3511581 ~-25K 14869(CTNS)(+)Loci: 2969 3573945-3576739 ~-3K 14877(GSG2)(+)Loci: 4252 3710373-3743086 ~-33K 14879(CAMKK1)(-)Loci: 4253 3773917-3814485 ~-41K 14884(ATP2A3)(-)Loci: 4254 4013949-4114000 ~-100K 14897(ANKFY1)(-)Loci: 2966 2443685-2535638 ~-92K 14848(PAFAH1B1)(+)Link out to UCSC