Format

Send to:

Choose Destination

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

Gene ID: 5050, updated on 9-Dec-2018

Summary

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
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

Genomic context

See PAFAH1B3 in Genome Data Viewer
Location:
19q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (42297033..42302800, complement)
105 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 ETS2 repressor factor Neighboring gene ZFP161 motif-containing MPRA enhancer 284/285 Neighboring gene capicua transcriptional repressor Neighboring gene proline rich 19 Neighboring gene transmembrane protein 145 Neighboring gene multiple EGF like domains 8 Neighboring gene microRNA 8077

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44990

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-alkyl-2-acetylglycerophosphocholine esterase activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phospholipase A2 activity TAS
Traceable Author Statement
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
 
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 
nervous system development TAS
Traceable Author Statement
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 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
platelet-activating factor acetylhydrolase IB subunit gamma
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, isoform Ib, subunit 3 (29kDa)
NP_001139411.1
NP_001139412.1
NP_002564.1
XP_016882335.1
XP_016882336.1
XP_016882337.1

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_001145939.1NP_001139411.1  platelet-activating factor acetylhydrolase IB subunit gamma

    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
    UniProtKB/TrEMBL
    A0A024R0L6
    Related
    ENSP00000444935.1, ENST00000538771.5
    Conserved Domains (1) summary
    cd01820
    Location:7205
    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_001145940.1NP_001139412.1  platelet-activating factor acetylhydrolase IB subunit gamma

    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
    UniProtKB/TrEMBL
    A0A024R0L6
    Conserved Domains (1) summary
    cd01820
    Location:7205
    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_002573.3NP_002564.1  platelet-activating factor acetylhydrolase IB subunit gamma

    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
    UniProtKB/TrEMBL
    A0A024R0L6
    Related
    ENSP00000262890.2, ENST00000262890.7
    Conserved Domains (1) summary
    cd01820
    Location:7205
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cd01820
    Location:7192
    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_017026847.1XP_016882336.1  platelet-activating factor acetylhydrolase IB subunit gamma isoform X1

    Conserved Domains (1) summary
    cd01820
    Location:7192
    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_017026846.1XP_016882335.1  platelet-activating factor acetylhydrolase IB subunit gamma isoform X1

    Related
    ENSP00000471933.1, ENST00000594989.5
    Conserved Domains (1) summary
    cd01820
    Location:7192
    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 ...
Support Center