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PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 [ Homo sapiens (human) ]

Gene ID: 5048, updated on 6-May-2021

Summary

Official Symbol
PAFAH1B1provided by HGNC
Official Full Name
platelet activating factor acetylhydrolase 1b regulatory subunit 1provided by HGNC
Primary source
HGNC:HGNC:8574
See related
Ensembl:ENSG00000007168 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; NudF; 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]
Expression
Ubiquitous expression in brain (RPKM 59.5), testis (RPKM 32.6) and 25 other tissues See more
Orthologs
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Genomic context

See PAFAH1B1 in Genome Data Viewer
Location:
17p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (2593210..2685617)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2496948..2588909)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 33, pseudogene Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 9 Neighboring gene sterile alpha motif domain containing 11 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 608, pseudogene Neighboring gene uncharacterized LOC105371490 Neighboring gene microRNA 6776 Neighboring gene clustered mitochondria homolog

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-10-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-13)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

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 Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynactin binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables dynein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables dynein intermediate chain binding IEA
Inferred from Electronic Annotation
more info
 
enables heparin binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables microtubule plus-end binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phospholipase binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables phosphoprotein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
involved_in acrosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in adult locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ameboidal-type cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in auditory receptor cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in brain morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in brain morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebral cortex neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
involved_in cochlea development IEA
Inferred from Electronic Annotation
more info
 
involved_in corpus callosum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cortical microtubule organization IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of centrosome localization IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of planar polarity of embryonic epithelium IEA
Inferred from Electronic Annotation
more info
 
involved_in germ cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in hippocampus development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in layer formation in cerebral cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in learning or memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of centrosome location IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in microtubule cytoskeleton organization involved in establishment of planar polarity IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule organizing center organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microtubule organizing center organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule sliding IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule-based process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitotic spindle organization TAS
Traceable Author Statement
more info
 
involved_in negative regulation of JNK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in nuclear membrane disassembly IEA
Inferred from Electronic Annotation
more info
 
involved_in nuclear migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in osteoclast development IEA
Inferred from Electronic Annotation
more info
 
involved_in platelet activating factor metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of axon extension IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of dendritic spine morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in reelin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
involved_in regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retrograde axonal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retrograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in stem cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in transmission of nerve impulse ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in vesicle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle transport along microtubule ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in astral microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cell leading edge ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in central region of growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
part_of kinesin complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
part_of microtubule associated complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of microtubule associated complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in stereocilium IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
platelet-activating factor acetylhydrolase IB subunit beta
Names
lissencephaly 1 protein
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
NP_000421.1
XP_011522203.1
XP_011522204.1
XP_011522205.1
XP_016880190.1
XP_016880191.1
XP_016880192.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_009799.1 RefSeqGene

    Range
    5026..96987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000430.4NP_000421.1  platelet-activating factor acetylhydrolase IB subunit beta

    See identical proteins and their annotated locations for NP_000421.1

    Status: REVIEWED

    Source sequence(s)
    AC005696, AC015799
    Consensus CDS
    CCDS32528.1
    UniProtKB/Swiss-Prot
    P43034
    Related
    ENSP00000380378.4, ENST00000397195.10
    Conserved Domains (3) summary
    smart00667
    Location:739
    LisH; Lissencephaly type-1-like homology motif
    cd00200
    Location:104408
    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 ...
    sd00039
    Location:111148
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    2593210..2685617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024701.1XP_016880190.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X2

    UniProtKB/Swiss-Prot
    P43034
    Related
    ENSP00000502577.1, ENST00000676188.1
    Conserved Domains (3) summary
    smart00667
    Location:739
    LisH; Lissencephaly type-1-like homology motif
    cd00200
    Location:104408
    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 ...
    sd00039
    Location:111148
    7WD40; WD40 repeat [structural motif]
  2. XM_011523901.2XP_011522203.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

    See identical proteins and their annotated locations for XP_011522203.1

    Related
    ENSP00000501976.1, ENST00000674608.1
    Conserved Domains (4) summary
    COG2319
    Location:115428
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:122426
    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 ...
    pfam08513
    Location:3053
    LisH; LisH
    sd00039
    Location:129166
    7WD40; WD40 repeat [structural motif]
  3. XM_017024702.2XP_016880191.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X3

    Related
    ENSP00000502737.1, ENST00000676353.1
    Conserved Domains (2) summary
    cd00200
    Location:39343
    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 ...
    sd00039
    Location:4683
    7WD40; WD40 repeat [structural motif]
  4. XM_017024703.1XP_016880192.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X4

  5. XM_011523902.3XP_011522204.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

    See identical proteins and their annotated locations for XP_011522204.1

    Conserved Domains (4) summary
    COG2319
    Location:115428
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:122426
    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 ...
    pfam08513
    Location:3053
    LisH; LisH
    sd00039
    Location:129166
    7WD40; WD40 repeat [structural motif]
  6. XM_011523903.2XP_011522205.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

    See identical proteins and their annotated locations for XP_011522205.1

    Conserved Domains (4) summary
    COG2319
    Location:115428
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:122426
    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 ...
    pfam08513
    Location:3053
    LisH; LisH
    sd00039
    Location:129166
    7WD40; WD40 repeat [structural motif]
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