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

Gene ID: 5050, updated on 3-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
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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. Activity-Based Protein Profiling of Oncogene-Driven Changes in Metabolism Reveals Broad Dysregulation of PAFAH1B2 and 1B3 in Cancer. Kohnz RA, et al. ACS Chem Biol, 2015 Jul 17. PMID 25945974, Free PMC Article

See all (61) 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

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