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    PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 [ Homo sapiens (human) ]

    Gene ID: 5050, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PAFAH1B3provided by HGNC
    Official Full Name
    platelet activating factor acetylhydrolase 1b catalytic subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:8576
    See related
    Ensembl:ENSG00000079462 MIM:603074; AllianceGenome:HGNC:8576
    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
    PAFAHG
    Summary
    This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in testis (RPKM 7.8), brain (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PAFAH1B3 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42297033..42302800, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45116406..45122173, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42801185..42806952, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:42758837-42759336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42759977-42760508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42761304-42762125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42762126-42762946 Neighboring gene ETS2 repressor factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14711 Neighboring gene ZFP161 motif-containing MPRA enhancer 284/285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:42784339-42784844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42785857-42786361 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42787942-42788116 Neighboring gene capicua transcriptional repressor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42794166-42795066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42806463-42807117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10707 Neighboring gene proline rich 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42818801-42819301 Neighboring gene transmembrane protein 145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10711 Neighboring gene multiple EGF like domains 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42853955-42854456 Neighboring gene microRNA 8077

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. cDNA cloning of human cytosolic platelet-activating factor acetylhydrolase gamma-subunit and its mRNA expression in human tissues. Adachi H, et al. Biochem Biophys Res Commun, 1995 Sep 5. PMID 7669037
    2. PAFAH1B3 Regulates Papillary Thyroid Carcinoma Cell Proliferation and Metastasis by Affecting the EMT. Jiang W, et al. Curr Med Chem, 2024. PMID 37102492
    3. [Correlation between PAFAH1B3 Expression Level and Risk of Disease Progression After Autologous Hematopoietic Stem Cell Transplantation in Multiple Myeloma Patients]. Gu ZY, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2023 Apr. PMID 37096518
    4. Metabolic profiling reveals PAFAH1B3 as a critical driver of breast cancer pathogenicity. Mulvihill MM, et al. Chem Biol, 2014 Jul 17. PMID 24954006, Free PMC Article
    5. Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. Nothwang HG, et al. Hum Mol Genet, 2001 Apr 1. PMID 11285245

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PAFAH1B3 is a KLF9 target gene that promotes proliferation and metastasis in pancreatic cancer.
      Title: PAFAH1B3 is a KLF9 target gene that promotes proliferation and metastasis in pancreatic cancer.
    2. PAFAH1B3 Regulates Papillary Thyroid Carcinoma Cell Proliferation and Metastasis by Affecting the EMT.
      Title: PAFAH1B3 Regulates Papillary Thyroid Carcinoma Cell Proliferation and Metastasis by Affecting the EMT.
    3. [Correlation between PAFAH1B3 Expression Level and Risk of Disease Progression After Autologous Hematopoietic Stem Cell Transplantation in Multiple Myeloma Patients].
      Title: [Correlation between PAFAH1B3 Expression Level and Risk of Disease Progression After Autologous Hematopoietic Stem Cell Transplantation in Multiple Myeloma Patients].
    4. PAFAH1B2 and 1B3 are important in maintaining cancer pathogenicity across a wide spectrum of cancer types.
      Title: Activity-Based Protein Profiling of Oncogene-Driven Changes in Metabolism Reveals Broad Dysregulation of PAFAH1B2 and 1B3 in Cancer.
    5. PAFAH1B3 as a critical metabolic node in breast cancer
      Title: Metabolic profiling reveals PAFAH1B3 as a critical driver of breast cancer pathogenicity.
    6. PAFAH1B3 has been found to be differentially methylated in head and neck squamous cell carcinoma.
      Title: FOXM1 induces a global methylation signature that mimics the cancer epigenome in head and neck squamous cell carcinoma.
    7. intracellular type I PAF acetylhydrolase (PAFAH1B2 and PAFAH1B3) is the major aspirin hydrolase of human blood
      Title: Intracellular erythrocyte platelet-activating factor acetylhydrolase I inactivates aspirin in blood.
    8. These results indicate an antagonistic effect of alpha1, alpha2 and Ndel1 for Lis1 binding, probably to modulate dynein functions in vivo.
      Title: Opposing effects of Ndel1 and alpha1 or alpha2 on cytoplasmic dynein through competitive binding to Lis1.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44990

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-alkyl-2-acetylglycerophosphocholine esterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables platelet-activating factor acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    platelet-activating factor acetylhydrolase IB subunit alpha1
    Names
    PAF acetylhydrolase 29 kDa subunit
    PAF-AH 29 kDa subunit
    PAF-AH subunit gamma
    PAF-AH1b alpha 1 subunit
    PAFAH subunit gamma
    epididymis secretory sperm binding protein
    platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
    platelet-activating factor acetylhydrolase IB subunit gamma
    NP_001139411.1
    NP_001139412.1
    NP_002564.1
    XP_016882335.1
    XP_016882336.1
    XP_016882337.1
    XP_054177104.1
    XP_054177105.1
    XP_054177106.1

    NCBI Reference Sequences (RefSeq)

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    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_001145939.2 → NP_001139411.1  platelet-activating factor acetylhydrolase IB subunit alpha1

      See identical proteins and their annotated locations for NP_001139411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC003016, BE048307
      Consensus CDS
      CCDS12602.1
      UniProtKB/Swiss-Prot
      Q15102, Q53X88
      UniProtKB/TrEMBL
      A0A024R0L6, M0R1K3
      Related
      ENSP00000444935.1, ENST00000538771.5
      Conserved Domains (1) summary
      cd01820
      Location:7 → 205
      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 ...

    2. NM_001145940.1 → NP_001139412.1  platelet-activating factor acetylhydrolase IB subunit alpha1

      See identical proteins and their annotated locations for NP_001139412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA432316, BC003016
      Consensus CDS
      CCDS12602.1
      UniProtKB/Swiss-Prot
      Q15102, Q53X88
      UniProtKB/TrEMBL
      A0A024R0L6, M0R1K3
      Conserved Domains (1) summary
      cd01820
      Location:7 → 205
      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 ...

    3. NM_002573.4 → NP_002564.1  platelet-activating factor acetylhydrolase IB subunit alpha1

      See identical proteins and their annotated locations for NP_002564.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC003016, CB216829
      Consensus CDS
      CCDS12602.1
      UniProtKB/Swiss-Prot
      Q15102, Q53X88
      UniProtKB/TrEMBL
      A0A024R0L6, M0R1K3
      Related
      ENSP00000262890.2, ENST00000262890.8
      Conserved Domains (1) summary
      cd01820
      Location:7 → 205
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      42297033..42302800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026848.1 → XP_016882337.1  platelet-activating factor acetylhydrolase IB subunit alpha1 isoform X1

      UniProtKB/TrEMBL
      M0R1K3
      Conserved Domains (1) summary
      cd01820
      Location:7 → 192
      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 ...

    2. XM_017026847.2 → XP_016882336.1  platelet-activating factor acetylhydrolase IB subunit alpha1 isoform X1

      UniProtKB/TrEMBL
      M0R1K3
      Conserved Domains (1) summary
      cd01820
      Location:7 → 192
      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 ...

    3. XM_017026846.2 → XP_016882335.1  platelet-activating factor acetylhydrolase IB subunit alpha1 isoform X1

      UniProtKB/TrEMBL
      M0R1K3
      Related
      ENSP00000471933.1, ENST00000594989.5
      Conserved Domains (1) summary
      cd01820
      Location:7 → 192
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      45116406..45122173 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321131.1 → XP_054177106.1  platelet-activating factor acetylhydrolase IB subunit alpha1 isoform X1

    2. XM_054321130.1 → XP_054177105.1  platelet-activating factor acetylhydrolase IB subunit alpha1 isoform X1

    3. XM_054321129.1 → XP_054177104.1  platelet-activating factor acetylhydrolase IB subunit alpha1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15102.1 GenPept UniProtKB/Swiss-Prot:Q15102

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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