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

    Gene ID: 5048, updated on 7-Apr-2024

    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; AllianceGenome:HGNC:8574
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PAFAH1B1 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2593183..2685615)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2482370..2574760)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2496154-2496882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8008 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 7021 Neighboring gene sterile alpha motif domain containing 11 pseudogene 1 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2562337-2562838 Neighboring gene RNA, 7SL, cytoplasmic 608, pseudogene Neighboring gene uncharacterized LOC105371490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2594504-2595012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2595013-2595520 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

    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
     
    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
     
    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 JNK cascade IEA
    Inferred from Electronic Annotation
    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
     
    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 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
     
    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
     
    involved_in hippocampus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in interneuron migration IEA
    Inferred from Electronic Annotation
    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
     
    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 modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myeloid leukocyte migration IEA
    Inferred from Electronic Annotation
    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
     
    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 radial glia-guided pyramidal neuron migration 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 microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retrograde axonal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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 Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    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
     
    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 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of kinesin complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
     
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     

    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_016880192.1
    XP_047292118.1
    XP_047292119.1
    XP_047292120.1
    XP_047302781.1
    XP_054172273.1
    XP_054172274.1
    XP_054172275.1
    XP_054172276.1
    XP_054172277.1
    XP_054172278.1
    XP_054172279.1

    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
      B2R7Q7, P43034, Q8WZ88, Q8WZ89
      UniProtKB/TrEMBL
      A0A6Q8PG63
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      2593183..2685615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024701.2XP_016880190.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X2

      UniProtKB/Swiss-Prot
      B2R7Q7, P43034, Q8WZ88, Q8WZ89
      UniProtKB/TrEMBL
      A0A6Q8PG63
      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_011523901.3XP_011522203.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

      See identical proteins and their annotated locations for XP_011522203.1

      UniProtKB/TrEMBL
      A0A6Q8PFU3
      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_011523902.4XP_011522204.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

      See identical proteins and their annotated locations for XP_011522204.1

      UniProtKB/TrEMBL
      A0A6Q8PFU3
      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]
    4. XM_017024703.1XP_016880192.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X4

    5. XM_047436163.1XP_047292119.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X2

      UniProtKB/Swiss-Prot
      B2R7Q7, P43034, Q8WZ88, Q8WZ89
      Related
      ENSP00000502843.1, ENST00000675202.1
    6. XM_047436164.1XP_047292120.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PFT2
      Related
      ENSP00000502737.1, ENST00000676353.1
    7. XM_047436162.1XP_047292118.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X2

      UniProtKB/Swiss-Prot
      B2R7Q7, P43034, Q8WZ88, Q8WZ89
      Related
      ENSP00000502031.1, ENST00000675331.1
    8. XM_011523903.3XP_011522205.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

      See identical proteins and their annotated locations for XP_011522205.1

      UniProtKB/TrEMBL
      A0A6Q8PFU3
      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]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      2482370..2574760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316303.1XP_054172278.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X2

      UniProtKB/Swiss-Prot
      B2R7Q7, P43034, Q8WZ88, Q8WZ89
    2. XM_054316298.1XP_054172273.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PFU3
    3. XM_047446825.1XP_047302781.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X4

    4. XM_054316300.1XP_054172275.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PFU3
    5. XM_054316302.1XP_054172277.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X2

      UniProtKB/Swiss-Prot
      B2R7Q7, P43034, Q8WZ88, Q8WZ89
    6. XM_054316304.1XP_054172279.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PFT2
    7. XM_054316301.1XP_054172276.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X2

      UniProtKB/Swiss-Prot
      B2R7Q7, P43034, Q8WZ88, Q8WZ89
    8. XM_054316299.1XP_054172274.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PFU3