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    PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 [ Homo sapiens (human) ]

    Gene ID: 5049, updated on 21-Dec-2019

    Summary

    Official Symbol
    PAFAH1B2provided by HGNC
    Official Full Name
    platelet activating factor acetylhydrolase 1b catalytic subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:8575
    See related
    Ensembl:ENSG00000168092 MIM:602508
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEL-S-303
    Summary
    Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
    Expression
    Ubiquitous expression in brain (RPKM 16.2), thyroid (RPKM 12.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See PAFAH1B2 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (117144284..117178173)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117015000..117048889)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cleavage and polyadenylation specificity factor subunit 5-like Neighboring gene proprotein convertase subtilisin/kexin type 7 pseudogene Neighboring gene SID1 transmembrane family member 2 Neighboring gene uncharacterized LOC100652768 Neighboring gene transgelin Neighboring gene proprotein convertase subtilisin/kexin type 7

    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?

    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
    1-alkyl-2-acetylglycerophosphocholine esterase activity IEA
    Inferred from Electronic Annotation
    more info
     
    platelet-activating factor acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    platelet-activating factor acetylhydrolase IB subunit beta
    Names
    PAF acetylhydrolase 30 kDa subunit
    PAF-AH 30 kDa subunit
    PAF-AH subunit beta
    PAF-AH1b alpha 2 subunit
    PAFAH subunit beta
    epididymis secretory protein Li 303
    epididymis secretory sperm binding protein
    intracellular platelet-activating factor acetylhydrolase alpha 2 subunit
    platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
    platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)
    NP_001171675.1
    NP_001171676.1
    NP_001171677.1
    NP_001296360.1
    NP_002563.1
    XP_016873329.1

    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.

    mRNA and Protein(s)

    1. NM_001184746.2NP_001171675.1  platelet-activating factor acetylhydrolase IB subunit beta isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains different segments for its 3' end, compared to variant 1. The resulting protein (isoform b) has a shorter and distinct C-terminus when it is compared to isoform a. This variant has also been called SpV-2 in PubMed ID: 18155631.
      Source sequence(s)
      AP005018, AW080651, DQ836741
      Consensus CDS
      CCDS53714.1
      UniProtKB/Swiss-Prot
      P68402
      Related
      ENSP00000431365.1, ENST00000530272.1
      Conserved Domains (1) summary
      cl01053
      Location:8138
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
    2. NM_001184747.2NP_001171676.1  platelet-activating factor acetylhydrolase IB subunit beta isoform c

      See identical proteins and their annotated locations for NP_001171676.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform c) has a shorter and distinct C-terminus when it is compared to isoform a. This variant has also been called SpV-1 in PubMed ID: 18155631.
      Source sequence(s)
      AP005018, AW080651, DQ836742
      Consensus CDS
      CCDS53715.1
      UniProtKB/Swiss-Prot
      P68402
      Related
      ENSP00000434951.2, ENST00000529887.6
      Conserved Domains (1) summary
      cl01053
      Location:8139
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
    3. NM_001184748.1NP_001171677.1  platelet-activating factor acetylhydrolase IB subunit beta isoform d

      See identical proteins and their annotated locations for NP_001171677.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform d) has a shorter and distinct C-terminus when it is compared to isoform a. This variant has also been called SpV-5 in PubMed ID: 18155631.
      Source sequence(s)
      AP005018, D63390, DQ836738
      Consensus CDS
      CCDS53713.1
      UniProtKB/Swiss-Prot
      P68402
      Related
      ENSP00000388742.2, ENST00000419197.6
      Conserved Domains (1) summary
      cl01053
      Location:8132
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
    4. NM_001309431.2NP_001296360.1  platelet-activating factor acetylhydrolase IB subunit beta isoform e

      See identical proteins and their annotated locations for NP_001296360.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an in-frame downstream start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AP005018, D63390, DB095144, DQ836743
      UniProtKB/Swiss-Prot
      P68402
      Conserved Domains (1) summary
      cd01820
      Location:1169
      PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...
    5. NM_002572.4NP_002563.1  platelet-activating factor acetylhydrolase IB subunit beta isoform a

      See identical proteins and their annotated locations for NP_002563.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform a).
      Source sequence(s)
      AP005018, D63390, DQ836743
      Consensus CDS
      CCDS8380.1
      UniProtKB/Swiss-Prot
      P68402
      UniProtKB/TrEMBL
      V9HW44
      Related
      ENSP00000435289.1, ENST00000527958.6
      Conserved Domains (1) summary
      cd01820
      Location:8217
      PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...

    RNA

    1. NR_110268.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks 3' terminal exon but has an alternate 3' sequence, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      DA992484, DB484056, DQ836739
    2. NR_110269.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks 3' terminal exon but has an alternate 3' sequence, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP005018, DA992484, DB484056, DQ836740
    3. NR_110282.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks three consecutive internal exons in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AK307366, AP005018, DQ836743

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      117144284..117178173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017840.1XP_016873329.1  platelet-activating factor acetylhydrolase IB subunit beta isoform X1

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