PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) [Homo sapiens] - Gene

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Summary

Official Symbol: PAFAH1B1provided by HGNC
Official Full Name: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)provided by HGNC
Primary source: HGNC:8574
See related: Ensembl:ENSG00000007168; HPRD:03329; MIM:601545
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MDS; LIS1; LIS2; MDCR; PAFAH
Summary: This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric 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. [provided by RefSeq, Apr 2009]

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Genomic context

Location :: 17p13.3

Sequence :: Chromosome: 17; NC_000017.10 (2496923..2588909)

See PAFAH1B1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Studies indicate that binding of dynactin, LIS1 and NudEL regulate cytoplasmic dynein motor activity.
Title: Multiple modes of cytoplasmic dynein regulation.
The results did not detect a significant association. It indicated that common genetic variations in LIS1 genes might not play a role in the genetic predisposition to autism.
Title: No association of polymorphisms in the CDK5, NDEL1, and LIS1 with autism in Chinese Han population.
cell type-restricted role for LIS1 in large vesicular transport and quantitative support for a general role for LIS1 in high-load dynein functions.
Title: High-resolution imaging reveals indirect coordination of opposite motors and a role for LIS1 in high-load axonal transport.
Mutually exclusive cytoplasmic dynein regulation by NudE-Lis1 and dynactin.
Title: Mutually exclusive cytoplasmic dynein regulation by NudE-Lis1 and dynactin.
we have identified a so-far-unknown interaction between LIS1 and PDE4 isoforms, whereby PDE4 can modulate LIS1-dynein complexes and dynein-dependent processes within cells by sequestering LIS1.
Title: Interaction between LIS1 and PDE4, and its role in cytoplasmic dynein function.
PAFAH Ib regulates endocytic membrane trafficking through novel mechanisms involving both PLA(2) activity and LIS1-dependent dynein function
Title: The phospholipase A₂ enzyme complex PAFAH Ib mediates endosomal membrane tubule formation and trafficking.
these results suggest that LIS1 plays a potential tumor suppressor role in the development and progression of hepatocellular carcinoma.
Title: The human LIS1 is downregulated in hepatocellular carcinoma and plays a tumor suppressor function.
Single nucleotide polymorphism in PAFAH1B1 gene is associated with Myelodysplastic Syndromes.
Title: A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.
The truncated monomeric form of LIS1 had little effect on dynein motility, but an artificial dimer of truncated LIS1 suppressed dynein motility, which was restored by the N-terminal fragment of NDEL1.
Title: Functional dissection of LIS1 and NDEL1 towards understanding the molecular mechanisms of cytoplasmic dynein regulation.
Lis1 is cell-autonomously required for cortical neuron and astrocyte production and is involved in neuronal migration.
Title: Genetic mosaic dissection of Lis1 and Ndel1 in neuronal migration.

Submit: New GeneRIF Correction See all (44)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Miller-Dieker lissencephaly syndrome

MIM: 247200

Subcortical laminar heterotopia

MIM: 607432

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Inhibition of PP2A by LIS1 increases Tat mediated HIV-1 transcription	PubMed
	tat	HIV-1 Tat interacts with LIS1 in vitro and in vivo, and this interaction might contribute to the effect of Tat on microtubule formation	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P43034	P30622	CLIP1	HPRD	PubMed
P43034	P68400	CSNK2A1	HPRD	PubMed
P43034	O75553	DAB1	HPRD	PubMed
P43034	Q14203	DCTN1	HPRD	PubMed
P43034	O43602	DCX	HPRD	PubMed
P43034	Q9UI46	DNAI1	HPRD	PubMed
P43034	Q92598	HSPH1	HPRD	PubMed
P43034	Q15046	KARS	HPRD	PubMed
P43034	P46821	MAP1B	HPRD	PubMed
P43034	P11137	MAP2	HPRD	PubMed
P43034	Q9NXR1	NDE1	HPRD	PubMed
P43034	Q9GZM8	NDEL1	HPRD	PubMed
P43034	Q9Y266	NUDC	HPRD	PubMed
P43034	P43034	PAFAH1B1	HPRD	PubMed
P43034	P68402	PAFAH1B2	HPRD	PubMed
P43034	Q15102	PAFAH1B3	HPRD	PubMed
P43034	Q71U36	TUBA1A	HPRD	PubMed
BioGRID:111085	BioGRID:112163	CLIP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:111085	BioGRID:107841	CSNK2A1	BioGRID	PubMed	Biochemical Activity
BioGRID:111085	BioGRID:108007	DCTN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111085	BioGRID:115794	DCTN2	BioGRID	PubMed	Two-hybrid
BioGRID:111085	BioGRID:108008	DCX	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111085	BioGRID:118061	DISC1	BioGRID	PubMed	Two-hybrid
BioGRID:111085	BioGRID:108117	DYNC1H1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:111085	BioGRID:109938	KARS	BioGRID	PubMed	Two-hybrid
BioGRID:111085	BioGRID:123527	NDEL1	BioGRID	PubMed	Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:111085	BioGRID:115950	NUDC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:111085	BioGRID:212013	Nde1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Two-hybrid
BioGRID:111085	BioGRID:111085	PAFAH1B1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111085	BioGRID:111086	PAFAH1B2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:111085	BioGRID:111087	PAFAH1B3	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:111085	BioGRID:202013	Pafah1b1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111085	BioGRID:116682	TNIK	BioGRID	PubMed	Two-hybrid
BioGRID:111085	BioGRID:113603	TUBA1A	BioGRID	PubMed	Reconstituted Complex
BioGRID:111085	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111085	BioGRID:116272	WDR5	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
dynactin binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
dynein binding	IDA Inferred from Direct Assay more info	PubMed
dynein intermediate chain binding	IEA Inferred from Electronic Annotation more info
heparin binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
microtubule binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
phospholipase binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
phosphoprotein binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
G2/M transition of mitotic cell cycle	TAS Traceable Author Statement more info
M phase of mitotic cell cycle	TAS Traceable Author Statement more info
acrosome assembly	ISS Inferred from Sequence or Structural Similarity more info
actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
brain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
cell differentiation	IEA Inferred from Electronic Annotation more info
cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
cerebral cortex neuron differentiation	IEA Inferred from Electronic Annotation more info
corpus callosum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
establishment of centrosome localization	IEA Inferred from Electronic Annotation more info
establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotype more info	PubMed
hippocampus development	ISS Inferred from Sequence or Structural Similarity more info
layer formation in cerebral cortex	ISS Inferred from Sequence or Structural Similarity more info
learning or memory	ISS Inferred from Sequence or Structural Similarity more info
lipid catabolic process	IEA Inferred from Electronic Annotation more info
microtubule cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
microtubule organizing center organization	IMP Inferred from Mutant Phenotype more info	PubMed
microtubule-based process	IDA Inferred from Direct Assay more info	PubMed
mitotic cell cycle	TAS Traceable Author Statement more info
mitotic prometaphase	TAS Traceable Author Statement more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
neuron migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
nuclear envelope disassembly	IEA Inferred from Electronic Annotation more info
nuclear migration	IEA Inferred from Electronic Annotation more info
platelet activating factor metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of axon extension	IEA Inferred from Electronic Annotation more info
positive regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
regulation of Rho GTPase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
retrograde axon cargo transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
stem cell division	IEA Inferred from Electronic Annotation more info
synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info	PubMed
transmission of nerve impulse	ISS Inferred from Sequence or Structural Similarity more info	PubMed
transport	IEA Inferred from Electronic Annotation more info
vesicle transport along microtubule	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
astral microtubule	IDA Inferred from Direct Assay more info	PubMed
axon part	IEA Inferred from Electronic Annotation more info
cell cortex	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cell leading edge	ISS Inferred from Sequence or Structural Similarity more info
centrosome	IDA Inferred from Direct Assay more info	PubMed
centrosome	ISS Inferred from Sequence or Structural Similarity more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	ISS Inferred from Sequence or Structural Similarity more info	PubMed
cytosol	TAS Traceable Author Statement more info
growth cone	IEA Inferred from Electronic Annotation more info
insoluble fraction	IEA Inferred from Electronic Annotation more info
kinesin complex	IEA Inferred from Electronic Annotation more info
kinetochore	IDA Inferred from Direct Assay more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
microtubule	IEA Inferred from Electronic Annotation more info
microtubule associated complex	IDA Inferred from Direct Assay more info	PubMed
motile primary cilium	ISS Inferred from Sequence or Structural Similarity more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
NOT nonmotile primary cilium	ISS Inferred from Sequence or Structural Similarity more info
nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
nuclear membrane	IEA Inferred from Electronic Annotation more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
soluble fraction	IEA Inferred from Electronic Annotation more info
spindle	IEA Inferred from Electronic Annotation more info
vesicular fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: platelet-activating factor acetylhydrolase IB subunit alpha

Names: platelet-activating factor acetylhydrolase IB subunit alpha; LIS-1; PAFAH alpha; PAF-AH alpha; PAF-AH 45 kDa subunit; lissencephaly 1 protein; lissencephaly-1 protein; PAF acetylhydrolase 45 kDa subunit; platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa); platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)

NP_000421.1

EC 3.1.1.47

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009799.1 RefSeqGene

Range

5001..96987

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000430.3 → NP_000421.1 platelet-activating factor acetylhydrolase IB subunit alpha

Status: REVIEWED

Source sequence(s)

AC005696, AC015799

Consensus CDS

CCDS32528.1

UniProtKB/Swiss-Prot

P43034

Related

ENSP00000380378, ENST00000397195

Conserved Domains (2) summary

cd00200
Location:104 – 408
Blast Score: 790

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cl11662
Location:9 – 35
Blast Score: 109

LisH; LisH

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

2496923..2588909

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

2389423..2481264

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005696.1 (17459..60939)	None
genomic	AC015799.23	None
genomic	CH471108.2	EAW90536.1
genomic	U72342.1	AAC51111.1
mRNA	AF208835.1	None
mRNA	AF208836.1	None
mRNA	AF208837.1	AAL34972.1
mRNA	AF208838.1	AAL34973.1
mRNA	AF400434.1	AAK92483.1
mRNA	AK293918.1	BAG57299.1
mRNA	AK303015.1	BAG64145.1
mRNA	AK313078.1	BAG35904.1
mRNA	BC064638.1	AAH64638.1
mRNA	BX538346.1	CAD98141.1
mRNA	L13385.1	AAA02880.1
mRNA	L13386.1	AAA02881.1
mRNA	L13387.1	AAA02882.1
mRNA	L13388.1	None
mRNA	L25107.1	None
mRNA	S81396.1	None