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

Gene ID: 5049, updated on 8-Jul-2021

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
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Genomic context

See PAFAH1B2 in Genome Data Viewer
Location:
11q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (117144287..117178173)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117015003..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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available

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 1-alkyl-2-acetylglycerophosphocholine esterase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables platelet-activating factor acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 positive regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
platelet-activating factor acetylhydrolase IB subunit alpha2
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 IB subunit beta
NP_001171675.1
NP_001171676.1
NP_001171677.1
NP_001296360.1
NP_002563.1
XP_016873329.1

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_001184746.2NP_001171675.1  platelet-activating factor acetylhydrolase IB subunit alpha2 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 alpha2 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; 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 resembles the typical ...
  3. NM_001184748.2NP_001171677.1  platelet-activating factor acetylhydrolase IB subunit alpha2 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; 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 resembles the typical ...
  4. NM_001309431.2NP_001296360.1  platelet-activating factor acetylhydrolase IB subunit alpha2 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 alpha2 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 109.20210514

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
    117144287..117178173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017840.1XP_016873329.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X1

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